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
• Disease Acronyms (UniProt): 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	21873635
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	21873635
GO:0004222	Function	Metalloendopeptidase activity	ISS
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
GO:0005615	Component	Extracellular space	IMP	24784232
GO:0005634	Component	Nucleus	IMP	24784232
GO:0005737	Component	Cytoplasm	IDA	22065321
GO:0005796	Component	Golgi lumen	TAS
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA	15351710, 24859005
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	TAS	8015608
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0006508	Process	Proteolysis	IDA	15863497, 24970228
GO:0006508	Process	Proteolysis	TAS	14645246
GO:0006979	Process	Response to oxidative stress	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008584	Process	Male gonad development	IEA
GO:0009612	Process	Response to mechanical stimulus	IEA
GO:0010831	Process	Positive regulation of myotube differentiation	ISS
GO:0010954	Process	Positive regulation of protein processing	IEA
GO:0014070	Process	Response to organic cyclic compound	IEA
GO:0016485	Process	Protein processing	TAS	24970228
GO:0022617	Process	Extracellular matrix disassembly	TAS
GO:0030198	Process	Extracellular matrix organization	IBA	21873635
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	21873635
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	21873635
GO:0031638	Process	Zymogen activation	IDA	20666777
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	ISS
GO:0045746	Process	Negative regulation of Notch signaling pathway	ISS
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	TAS	14645246
GO:0051895	Process	Negative regulation of focal adhesion assembly	IEA
GO:0060322	Process	Head development	IEA
GO:0070006	Function	Metalloaminopeptidase activity	IDA	24970228
GO:0070006	Function	Metalloaminopeptidase activity	TAS	14645246
GO:0097094	Process	Craniofacial suture morphogenesis	IEA
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

Causal
Disease term	Disease name	dbSNP ID	References
Adenocarcinoma	Adenocarcinoma, Adenocarcinoma, Basal Cell, Adenocarcinoma, Oxyphilic, Adenocarcinoma, Tubular	rs121913530, rs886039394, rs121913474	21472143
Aortic aneurysm	Aortic Aneurysm, Abdominal	rs1555554098, rs267606902, rs121434526, rs121434527, rs121434528, rs387906592, rs387906781, rs387906782, rs397516685, rs397514037, rs112901682, rs397515325, rs397515330, rs794728025, rs112602953, rs794728021, rs8046180, rs797045725, rs876657852, rs878854466, rs886038978, rs746972765, rs886039303, rs886040965, rs886040966, rs886040967, rs886229659, rs1553781304, rs1060502531, rs1553795301, rs1553803235, rs1213452826, rs869025352, rs1553780501, rs1553785222, rs1382893400, rs1554841990, rs1430822242, rs1567692384, rs1576422965, rs1596712899, rs2059732940, rs2041090817, rs1439991530	19010778
Arthritis	Arthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470
Atrial septal defect	Atrial Septal Defects	rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074, rs267606903, rs121912677, rs387906585, rs387906773, rs72554028, rs587782928, rs587782929, rs587782930, rs587784067, rs1555226315, rs879253754, rs1114167356, rs773922431, rs1554093487, rs1554093433, rs1554093461, rs1561621507, rs1561619801, rs766692577, rs1581108237, rs1581111034, rs1579663872, rs1583066622, rs1456289029, rs1761430125
Atrioventricular block	Atrioventricular Block	rs766840243, rs763809932
Bicuspid aortic valve	Bicuspid aortic valve	rs1569484234, rs1569484208
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243	24014025
Breast carcinoma	Breast Carcinoma	rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038	24014025
Carcinoma	Carcinoma, Cribriform, Carcinoma, Granular Cell	rs121912654, rs555607708, rs786202962, rs1564055259	21472143
Diabetes mellitus	Diabetes Mellitus, Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs80356663, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs371977235, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261
Double outlet right ventricle	Double Outlet Right Ventricle	rs397514520, rs397514521
Esophagus neoplasm	Esophageal Neoplasms, Malignant neoplasm of esophagus	rs28934578, rs121918714, rs1567556006, rs1575166666	21472143
Hypertension	Hypertensive disease	rs13306026
Marfan syndrome	Mammary Carcinoma, Human	rs137854456, rs137854457, rs267606796, rs137854458, rs137854459, rs137854460, rs137854470, rs137854471, rs267606797, rs137854461, rs137854462, rs137854463, rs869025419, rs137854464, rs137854465, rs137854466, rs137854467, rs387906547, rs387906548, rs137854469, rs137854473, rs1131692050, rs112989722, rs137854474, rs137854476, rs140593, rs1555395819, rs137854478, rs137854479, rs137854480, rs137854481, rs137854482, rs137854483, rs137854484, rs137854485, rs112289537, rs193922181, rs193922182, rs193922185, rs140603, rs193922187, rs193922188, rs193921256, rs112660651, rs193922193, rs193922194, rs193922197, rs193922198, rs193922199, rs193922203, rs193922204, rs193922205, rs193922206, rs111401431, rs193922207, rs113871094, rs111671429, rs193922216, rs193922219, rs193922220, rs193922223, rs193922224, rs193922225, rs193922226, rs193922227, rs193922228, rs193922230, rs193922235, rs147195031, rs193922236, rs193922239, rs193922240, rs193922241, rs193922246, rs397514558, rs398122934, rs397515753, rs397515754, rs397515755, rs397515756, rs397515757, rs113812345, rs397515758, rs397515759, rs397515762, rs25403, rs397515765, rs397515766, rs397515767, rs397515768, rs397515769, rs397515770, rs397515771, rs25404, rs397515773, rs397515774, rs397515775, rs397515776, rs397515778, rs397515779, rs397515781, rs112202622, rs397515782, rs397515784, rs397515785, rs397515786, rs397515788, rs397515789, rs397515790, rs397515791, rs397515792, rs397515793, rs397515794, rs397515797, rs397515798, rs397515799, rs397515801, rs397515802, rs397515803, rs397515804, rs397515805, rs397515808, rs397515810, rs397515811, rs397515812, rs111231312, rs267606798, rs397515814, rs113905529, rs397515816, rs397515817, rs397515818, rs397515819, rs397515820, rs363853, rs113249837, rs397515821, rs111929350, rs397515823, rs397515824, rs113086760, rs397515825, rs397515826, rs397515827, rs363807, rs397515828, rs397515829, rs397515830, rs397515831, rs397515833, rs111687884, rs113080385, rs397515834, rs397515836, rs113001196, rs397515840, rs397515845, rs397515846, rs397515847, rs397515848, rs397515851, rs397515852, rs397515853, rs397515854, rs111856492, rs397515859, rs397515861, rs397515863, rs397515864, rs397515865, rs397515866, rs397515867, rs137854855, rs199474693, rs587782944, rs587782947, rs587782948, rs672601352, rs876658120, rs727504651, rs727503054, rs727504315, rs727504411, rs727503057, rs727504454, rs200309328, rs363811, rs727504410, rs363821, rs727504347, rs727505006, rs727505110, rs730880356, rs727505269, rs727503058, rs727504421, rs730880107, rs730880104, rs730880103, rs730880102, rs730880101, rs730880106, rs730880100, rs730880105, rs730880099, rs112645512, rs730880108, rs730880098, rs730880097, rs794728321, rs794728283, rs794728280, rs794728336, rs794728272, rs794728160, rs794728271, rs794728270, rs794728319, rs794728262, rs794728251, rs76702162, rs794728335, rs794728334, rs794728246, rs763091520, rs794728333, rs794728237, rs761857514, rs794728234, rs140630, rs794728231, rs794728228, rs794728225, rs794728308, rs794728216, rs794728221, rs763449629, rs201058219, rs794728210, rs794728208, rs794728206, rs794728199, rs794728195, rs794728194, rs794728193, rs794728190, rs1555399381, rs794728176, rs1555399968, rs113422242, rs794728326, rs794728166, rs794728325, rs794728165, rs794728162, rs794728213, rs869025417, rs112642323, rs869025416, rs869025415, rs869025424, rs869025423, rs869025414, rs869025422, rs869025413, rs869025412, rs869025411, rs869025418, rs869025426, rs869025406, rs869025421, rs869025425, rs869025404, rs869025420, rs869025403, rs398122833, rs876657645, rs878853686, rs878853676, rs886038919, rs886038795, rs187553035, rs886038869, rs886038949, rs886038967, rs886038976, rs886038848, rs886038940, rs886038877, rs886039038, rs886038817, rs886038963, rs886039036, rs886038797, rs886039550, rs886041482, rs1057517855, rs1057518912, rs1057518973, rs1057519502, rs1057521100, rs1057521102, rs1057518881, rs1057520617, rs1057521101, rs1555394445, rs369058466, rs1060501069, rs1060501031, rs778966916, rs1060501043, rs1555397663, rs1060501017, rs1060501094, rs1060501065, rs1555393848, rs1555394151, rs1060501051, rs1060501013, rs1060501054, rs1060501048, rs1060501089, rs1060501039, rs1555398160, rs1060501022, rs1060501024, rs1060501086, rs1060501058, rs1060501036, rs1060501100, rs1060501042, rs1060501059, rs1555397743, rs1060501021, rs1060501027, rs1060501096, rs1060501038, rs1060501050, rs1064794130, rs112118237, rs1064793980, rs1064793118, rs1064793636, rs1064794282, rs1064793559, rs1085307921, rs1085308004, rs1085307468, rs112907302, rs1131691479, rs1131691373, rs1131691467, rs1131691938, rs1131691311, rs1131691806, rs1131691317, rs1555393827, rs363804, rs1555397738, rs1555399144, rs1555400274, rs1555394195, rs1555398836, rs113543334, rs1555399825, rs1555394626, rs1555395256, rs1555395257, rs1555396427, rs1555397548, rs1555398173, rs1555404803, rs1232880706, rs1555393825, rs1555394567, rs1555396998, rs1555394928, rs1555397203, rs112375043, rs1555397720, rs140599, rs1555399150, rs1555400373, rs1555405041, rs1555395229, rs1555397671, rs775417975, rs1555398774, rs1555399368, rs1555394904, rs1555395987, rs1555397424, rs1555398377, rs1555398835, rs1555401011, rs1555405043, rs1555394580, rs1555397404, rs1555398511, rs1555395826, rs1555399372, rs1555399821, rs1555399836, rs1555400063, rs363810, rs1555397655, rs1555395756, rs1555395742, rs1555393844, rs112550005, rs1555395002, rs1555395658, rs765387131, rs1555396429, rs1555396835, rs1555397014, rs1555397016, rs778710767, rs1555397557, rs1555397704, rs140648, rs1555398406, rs1555398681, rs1555399257, rs1555399361, rs1555399764, rs1555405056, rs1555393510, rs1555395980, rs1555396789, rs1555399094, rs1555399378, rs1555399816, rs1555395645, rs371097218, rs1555398278, rs1555394238, rs1555396418, rs1206813753, rs1555399271, rs1555405044, rs113544411, rs1555395663, rs1555397216, rs1555398989, rs1555399149, rs1555401670, rs1555395001, rs1445085747, rs1555393538, rs1555393565, rs1404133653, rs1555394450, rs1555394581, rs1555394633, rs1555394900, rs1555395189, rs1555395261, rs1052480459, rs1555395480, rs1555395670, rs363806, rs1555395820, rs1555396419, rs1555396765, rs1296209846, rs794728233, rs1555396853, rs1555396863, rs1555397197, rs1555397204, rs1555397212, rs1555397713, rs1555397736, rs1555398139, rs1555398144, rs1555398409, rs1555398510, rs1555398520, rs1555398524, rs1555398667, rs1555399089, rs1555399482, rs1555399763, rs1555401002, rs794728323, rs1555393508, rs1555393514, rs1555393525, rs1555393532, rs1555393653, rs1555393657, rs1555393824, rs1555393831, rs112196241, rs1555393847, rs1555393862, rs1555393863, rs1555393866, rs113935744, rs1555393882, rs1555393886, rs1555393889, rs1555394138, rs1555394144, rs1555394146, rs1555394148, rs1555394149, rs1555394152, rs1555394153, rs1555394189, rs1555394197, rs1555394206, rs1555394212, rs1555394218, rs1555394220, rs1555394235, rs1555394245, rs1555394246, rs1057520728, rs1555394390, rs1555394391, rs537570299, rs1555394397, rs1555394398, rs1555394399, rs1555394402, rs1555394407, rs1555394412, rs1555394435, rs1555394436, rs1555394441, rs1555394556, rs1555394557, rs1555394559, rs1555394561, rs1555394570, rs397515844, rs1555394571, rs1555394574, rs1555394579, rs1555394582, rs534811966, rs111588631, rs1555394628, rs1555394629, rs1555394630, rs1555394631, rs1555394641, rs1555394644, rs1555394647, rs1555394756, rs886051245, rs1555394775, rs1555394776, rs1555394777, rs1555394779, rs1555394780, rs1555394783, rs1555394901, rs1555394906, rs1555394925, rs794728253, rs886039158, rs1555395013, rs1555395187, rs1555395188, rs1555395203, rs1555395205, rs363815, rs1246984265, rs794728245, rs1555395263, rs1555395267, rs1555395456, rs1555395475, rs1555395482, rs1555395638, rs1555395641, rs1555395648, rs1555395653, rs1555395659, rs111239111, rs1555395745, rs1555395747, rs1555395753, rs1555395757, rs1555395766, rs1555395767, rs1555395843, rs1555395846, rs1555395849, rs1555395978, rs1555395981, rs1555395984, rs1555395989, rs1555395990, rs1260109901, rs1555396186, rs1555396188, rs1555396198, rs1555396199, rs1555396201, rs1555396202, rs1555396205, rs1555396213, rs1555396424, rs1555396426, rs1555396428, rs1555396435, rs1555396630, rs1555396635, rs1555396636, rs1555396639, rs1555396757, rs1555396769, rs1555396838, rs1555396844, rs140627, rs1555396858, rs1555396990, rs1555396991, rs1555396993, rs769588424, rs1555397022, rs1555397024, rs1555397160, rs1555397174, rs1555397176, rs1555397193, rs1555397209, rs1555397210, rs1555397214, rs1060501076, rs113082854, rs113693945, rs111978932, rs1555397403, rs1555397419, rs1555397420, rs1555397421, rs1555397536, rs1555397537, rs1555397540, rs1555397542, rs1555397543, rs1555397545, rs1555397546, rs1555397670, rs1555397692, rs1555397718, rs1555397723, rs1555397744, rs113393517, rs1555398148, rs1555398152, rs1555398174, rs1555398176, rs1555398179, rs1555398282, rs1555398287, rs1555398380, rs1555398394, rs1555398397, rs1555398401, rs1555398404, rs1555398407, rs1555398413, rs1555398501, rs1555398508, rs1555398512, rs1555398513, rs1555398515, rs1555398521, rs794728205, rs1555398527, rs1555398551, rs1060501075, rs1555398566, rs1555398572, rs1555398580, rs1555398582, rs140597, rs1555398622, rs1555398624, rs1555398625, rs112547596, rs1555398627, rs1555398633, rs1555398637, rs1555398642, rs778867355, rs1555398648, rs1555398659, rs1293095681, rs1060501040, rs987202268, rs1555398672, rs1555398673, rs1555398677, rs1555398793, rs1555398803, rs1555398811, rs1555398826, rs1555398833, rs1555398974, rs1555398981, rs778900586, rs1555398988, rs1555398994, rs1555398995, rs1555398996, rs1555399093, rs869025405, rs1555399101, rs1555399146, rs1555399160, rs1555399162, rs1555399164, rs1555399165, rs1555399193, rs1555399195, rs1555399202, rs1555399204, rs1555399206, rs201778577, rs1555399210, rs1555399214, rs1555399270, rs1555399273, rs1555399281, rs1555399371, rs1555399385, rs1555399477, rs1555399484, rs1555399761, rs1555399775, rs1555399802, rs1555399804, rs1555399837, rs1555399840, rs1555399940, rs1555399944, rs1555399949, rs1555399953, rs1555399954, rs1555399955, rs1555399959, rs1555399962, rs1555399963, rs1060501041, rs1555399974, rs1555399976, rs1555399977, rs1555400049, rs794728172, rs1555400062, rs1555400064, rs1555400066, rs1555400267, rs1555400268, rs1555400278, rs794728168, rs1555400279, rs1156747241, rs1555400288, rs1555400371, rs1555400372, rs1555400379, rs1555400385, rs587782943, rs1555400387, rs1555400406, rs1439533354, rs746201757, rs1555400595, rs1555400603, rs1555400604, rs1555400606, rs1555400609, rs752010116, rs1555400612, rs1555400616, rs1555401004, rs1555401005, rs146348130, rs1555401667, rs1555401671, rs1555401676, rs1555401679, rs1555401687, rs1555401689, rs1555401695, rs1555401697, rs1555401701, rs1555404799, rs1555404800, rs200295020, rs1555404810, rs1555404820, rs1555405031, rs1555405039, rs1555405045, rs1555405530, rs794728292, rs1555405533, rs1555405536, rs1555405537, rs111764111, rs1555405658, rs1555405664, rs774371494, rs1555405673, rs1555407399, rs1555407414, rs1555407423, rs1555407429, rs886041536, rs1555404806, rs1566911709, rs1566913974, rs1566894226, rs1566895223, rs1566897376, rs1566902526, rs1566915277, rs1566897374, rs1566897420, rs1566891655, rs1346043320, rs1566922396, rs1566891706, rs1566894783, rs1566913670, rs1555394196, rs1566891454, rs1566891406, rs1566891404, rs1566895262, rs1566891645, rs1566895225, rs1566896114, rs1566898399, rs1566904011, rs1566906537, rs1566908956, rs1566909766, rs1566919599, rs1566937712, rs1566915335, rs1566891675, rs1566904526, rs1566906506, rs1566900540, rs1566894230, rs1555395206, rs1566891797, rs1597512576, rs1597523873, rs1597581001, rs1597516325, rs1057524757, rs1597506641, rs1597520781, rs1597593695, rs1597529829, rs1597520625, rs1597579923, rs1597531796, rs1008275504, rs1597567249, rs1597569265, rs1597652471, rs1597516347, rs1597577114, rs1597633163, rs1597519658, rs1597593852, rs1597516501, rs1566913982, rs1555393859, rs1597513708, rs368978109, rs1480832655, rs1597520683, rs1597522390, rs1597522553, rs1597529748, rs1597533707, rs1597537815, rs1597545309, rs1597545836, rs1597563234, rs1597563280, rs1597564359, rs772108557, rs1597568968, rs1597574236, rs1597574308, rs1597577975, rs193922179, rs1597581005, rs1597593736, rs1597623670, rs1597625734, rs1597631662, rs113604459, rs1597633183, rs1597633219, rs1597518951, rs1555394781, rs1597525871, rs1597526073, rs1597569159, rs1597569536, rs1597563934, rs1597545199, rs1364210063, rs1597552583, rs1597520619, rs1597540854, rs1597591602, rs1597569551, rs1597548716, rs1597553721, rs112728248, rs1597537858, rs1597517935, rs1597540907, rs1597552388, rs1597591643, rs1597529841, rs1597506547, rs1597509836, rs1597529686, rs1566897404, rs1597533713, rs1597543486, rs1597545257, rs1597545345, rs1597548672, rs1597562812, rs1597563287, rs1597571391, rs1555400052, rs1597583989, rs363852, rs1597547226, rs363808, rs974604498, rs2043595650, rs2043526284, rs2042997306, rs1555397195, rs886039054, rs1555397213, rs2042873946	24014025
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Mitral valve prolapse	Mitral Valve Prolapse Syndrome	rs768737101
Multicentric osteolysis, nodulosis and arthropathy	Multicentric osteolysis-nodulosis-arthropathy spectrum	rs121912953, rs121912954, rs121912955, rs2142358692, rs1567378779, rs794727916
Osteoporosis	Osteoporosis, Generalized osteoporosis	rs72658152, rs72667023, rs587776916, rs72656370, rs768615287
Prostate cancer	Prostate cancer, familial	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	29892016
Prostate cancer, hereditary	PROSTATE CANCER, HEREDITARY, 1	rs387906327, rs193929331, rs74315365, rs397516896, rs794729219, rs121913349, rs587782641, rs1114167673, rs1597371666, rs2073394466	29892016
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775
Winchester syndrome	Winchester syndrome (disorder)	rs587777039	22922033

Unknown
Disease term	Disease name	Evidence	References	Source
Chronic obstructive pulmonary disease	Chronic Obstructive Airway Disease		19661247	ClinVar
Multicentric Osteolysis, Nodulosis And Arthropathy	multicentric osteolysis-nodulosis-arthropathy spectrum			GenCC
Dermatitis	Dermatitis			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma	Associate	31308045, 34397867
Adenocarcinoma of Lung	Associate	34580602, 37406091
Adenoma	Stimulate	28376625
Alzheimer Disease	Associate	33282112
Ameloblastoma	Inhibit	39941035
Aneurysm	Associate	21955474
Anodontia	Inhibit	17348445
Aortic Aneurysm Abdominal	Stimulate	11496285
Aortic Aneurysm Abdominal	Associate	11877705, 17322367, 25993293
Aortic Valve Calcification of	Associate	21146836
Arterial Occlusive Diseases	Stimulate	11496285
Arteriovenous Fistula	Associate	20724289
Arthritis Rheumatoid	Associate	10531073, 10830778, 10857781, 11959761, 19248098, 26464678, 9014820
Asthma	Associate	37964516
Astrocytoma	Associate	10027400
Atherosclerosis	Associate	25490770
Axial osteomalacia	Stimulate	34698138
Bicuspid Aortic Valve Disease	Associate	17382648
Biliary Tract Neoplasms	Associate	19330734
Blood Platelet Disorders	Associate	14691052
Bone Diseases	Associate	37904429
Brain Neoplasms	Associate	18267120, 20063114, 36430705
Breast Carcinoma In Situ	Associate	31530842
Breast Neoplasms	Associate	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
Breast Neoplasms	Stimulate	38189813
Bronchial Neoplasms	Associate	11232638
Bursitis	Associate	34007838
Cap Myopathy	Associate	16619495
Carcinogenesis	Associate	18519667, 26040767, 27562173, 31308045, 32930509
Carcinoma Ductal	Associate	16807982
Carcinoma Ductal Breast	Associate	16807982
Carcinoma Hepatocellular	Associate	11304581, 15668718, 19239691, 20653060, 22546345, 25549355, 26362312, 34007838
Carcinoma Hepatocellular	Stimulate	9736043
Carcinoma Intraductal Noninfiltrating	Associate	16807982, 20127359
Carcinoma Non Small Cell Lung	Associate	24986569
Carcinoma Non Small Cell Lung	Inhibit	32149403
Carcinoma Ovarian Epithelial	Associate	18976802, 26867765, 26959113
Carcinoma Pancreatic Ductal	Associate	21288898, 31731384, 37821678
Carcinoma Renal Cell	Stimulate	15592504
Carcinoma Renal Cell	Associate	17140440, 18976802, 21300979, 23281640, 28596300
Carcinoma Squamous Cell	Associate	10376963, 34868395
Cardiomyopathy Dilated	Stimulate	17670887
Cartilage Diseases	Associate	10830778, 31470617, 9212749
Cell Transformation Neoplastic	Stimulate	18519667
Cholangiocarcinoma	Associate	37274806
Cholestasis	Stimulate	9736043
Cholesteatoma	Associate	37904429
Cholesteatoma Middle Ear	Associate	37904429
Chondrosarcoma	Stimulate	10473866
Chondrosarcoma Mesenchymal	Associate	10473866
Colonic Polyps	Associate	28376625
Colorectal Neoplasms	Associate	10901373, 21968416, 26106602, 26650241, 34582006
Coronary Disease	Associate	35958279
Coxa Magna	Associate	30548828
Death	Associate	19753302
Dental Caries	Stimulate	22079283
Dermatitis Atopic	Associate	39245941
Dermatofibrosarcoma	Associate	15387709
Diabetes Gestational	Associate	22893718
Dupuytren Contracture	Associate	17336841, 22342364, 35627129
Embolism	Stimulate	15920147
Emphysema	Associate	18723334
Endometrial Neoplasms	Associate	12372458
Endometriosis	Associate	12372458, 19055724
Enteritis	Associate	15178550
Eosinophilic Esophagitis	Associate	25539192
Ependymoma	Associate	18716553
Epidermolysis Bullosa	Associate	20443817
Esophageal Neoplasms	Associate	24196787
Esophageal Squamous Cell Carcinoma	Associate	10861264, 24196787, 26916665, 29379981, 32930509
Fibrosarcoma	Associate	11240131, 11903048, 19551841, 19961596, 21439484, 22928028
Fibrosis	Associate	16877349, 17336841, 27774663
Focal Epithelial Hyperplasia of the Oral Mucosa	Associate	33879222
Giant Cell Arteritis	Associate	17502363
Glioblastoma	Associate	10027400, 12918061, 14631378, 17460777, 18267120, 25825051, 31142630, 34638754, 34884812, 35682709
Glioblastoma	Stimulate	9708803
Glioma	Associate	10206300, 10996658, 15016831, 15279711, 15992376, 17490812, 23166329, 27287871, 27613828, 9410885, 9708803
Glomerulonephritis Membranous	Associate	34819020
Granuloma	Associate	26091717
Hajdu Cheney Syndrome	Associate	22922033
Head and Neck Neoplasms	Stimulate	32633349
Head and Neck Neoplasms	Associate	7708715
Heart Diseases	Associate	19523958
Hepatoblastoma	Associate	25987077
Histiocytoma Benign Fibrous	Associate	15387709
Hyperplasia	Associate	25539192, 31058412
Hypoxia	Inhibit	16259004, 19523958, 23965235, 26323509
Hypoxia	Associate	22679501
Hypoxia	Stimulate	36265170
Hypoxia Brain	Associate	22679501
IgA Vasculitis	Associate	10830778, 11678909
Infections	Stimulate	31470617
Inflammation	Stimulate	10207013
Inflammation	Associate	12480917, 25490770, 32197620, 34580602, 37964516
Inflammatory Bowel Diseases	Associate	10861266
Inflammatory Breast Neoplasms	Stimulate	36592055
Kidney Neoplasms	Stimulate	32633349
Laryngeal Neoplasms	Associate	10491020
Lattice Corneal Dystrophy Type II	Associate	19904968
Leiomyoma	Associate	23814095, 34256950
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	35491124
Liver Cirrhosis	Associate	15591520, 28774960
Liver Neoplasms	Associate	9654189
Lung Injury	Associate	32934806
Lung Neoplasms	Associate	23605953
Lung Neoplasms	Stimulate	34868395
Lymphatic Metastasis	Stimulate	10491020, 25851348, 26040767, 27562173
Lymphatic Metastasis	Associate	16807982, 20412339, 22995648, 25268950, 31619663
Lymphoma B Cell	Associate	30606723
Lymphoma Large Cell Anaplastic	Associate	24180670
Medulloblastoma	Stimulate	9708803
Melanoma	Associate	10360651, 10409657, 10748199, 15009703, 16397238, 16675961, 19432894, 22164270, 24733393, 26392417, 36883877
Mesothelioma	Associate	11027427, 19753302, 23626673
Mesothelioma Malignant	Associate	19753302, 23626673, 24084442, 29138529
Mullerian aplasia	Associate	25492683
Muscle Neoplasms	Associate	19816602
Myocardial Infarction	Associate	25301980
Myxoma	Associate	15920147
Nasopharyngeal Carcinoma	Stimulate	26040767
Neoplasm Invasiveness	Associate	26106602
Neoplasm Metastasis	Associate	10409657, 10491020, 16807982, 17342087, 18519667, 18976802, 19211836, 19286653, 19820359, 20571065, 20579139, 20798051, 21219645, 22438955, 22637745, 22679501, 22791812, 22842186, 23202429, 24733393, 25887589, 26392417, 26637400, 26916665, 29379981, 29934494, 30592555, 31560170, 32049862, 32633349, 34397867, 34876482, 35028012, 35955799, 36106829, 36838824, 36871552, 39644603, 8686751
Neoplasm Metastasis	Stimulate	24986569, 30532247, 9736043
Neoplasms	Associate	10027405, 10376963, 10391091, 10473866, 10551322, 10686978, 10861264, 10901373, 11027427, 11044366, 11232638, 11237387, 11340084, 11724803, 11918701, 11920503, 12480917, 14691052, 14729679, 15381670, 15387709, 15665118, 16465195, 16551853, 16707440, 17140440, 17154180, 17156449, 17332756, 17460777, 17609667, 17640303, 18174174, 18519667, 18571410, 18716553, 18971959, 19010933, 19028702, 19211836, 19286653, 19330734, 19432894, 19551841, 19753302, 19820359, 19961596, 20197385, 20412339, 20471961, 20571065, 20579139, 20586027, 20666777, 20798051, 20946474, 21219645, 21439484, 21519891, 22002060, 22330140, 22516051, 22637745, 22679501, 22918226, 22928028, 23202429, 23281640, 23439492, 23516511, 23548172, 23605953, 24800696, 24986569, 25158190, 25774665, 25851348, 25887589, 25977338, 26040767, 26097538, 26106602, 26204513, 26392417, 26504170, 26637400, 26916665, 27116935, 27590006, 29050494, 29934494, 30471921, 30592555, 31200666, 31223610, 31560170, 32028690, 32049862, 32479595, 32819585, 32930509, 33879222, 34218518, 34397867, 34568889, 34868395, 34895039, 35028012, 35062057, 35637530, 36106829, 36592055, 36765296, 38082472, 39644603, 39941035, 40704538, 7708715, 8686751, 9654189, 9685743, 9721888
Neoplasms	Stimulate	10491020, 17938169, 30720114, 32694700
Neoplasms	Inhibit	32149403, 36883877
Neoplasms Basal Cell	Associate	14691052
Neoplasms Mesothelial	Associate	24084442
Neoplasms Unknown Primary	Inhibit	23696928
Neoplastic Cells Circulating	Associate	15920147
Nerve Sheath Neoplasms	Associate	16619545
Neuroblastoma	Associate	19961596, 20579139, 25987077, 9197532
Neurofibrosarcoma	Associate	16619545
Non Muscle Invasive Bladder Neoplasms	Associate	32633349
O'Donnell Pappas syndrome	Associate	19248098
Odontogenic Tumors	Associate	25158190
Osteoarthritis	Inhibit	23965235
Osteoarthritis	Associate	29292760, 31165896
Osteosarcoma	Associate	29050494, 35312779
Otitis Media	Associate	37904429
Ovarian Neoplasms	Associate	17158885, 17475671, 17609667, 18976802, 19028702, 19509114, 20946474, 21176152, 24603589, 27038607, 27590006, 30367951, 31282404
Pancreatic Neoplasms	Associate	21288898, 22232555, 22637745, 25973062, 32633349, 34114996, 34517516, 34854950, 37604837, 9654189
Periodontal Diseases	Inhibit	26821679
Periodontitis	Associate	26793622
Periodontitis	Inhibit	26821679
Peripheral Arterial Disease	Associate	22123215
Peritonitis	Associate	34242818
Personality Disorders	Associate	35955799
Pharyngeal Neoplasms	Associate	26001294
Pituitary Neoplasms	Associate	26097538
Plaque Atherosclerotic	Associate	25301980
Polycystic Ovary Syndrome	Associate	39796177
Pre Eclampsia	Stimulate	29565476
Primary Myelofibrosis	Associate	16877349
Prostatic Hyperplasia	Associate	22555040
Prostatic Hyperplasia	Stimulate	28471417
Prostatic Intraepithelial Neoplasia	Associate	16619495
Prostatic Neoplasms	Associate	17534446, 18174174, 21219645, 22555040, 26742965, 39341147
Prostatic Neoplasms	Inhibit	28471417
Prostatitis	Associate	17534446, 22555040, 26204513
Prostatitis	Stimulate	21219645
Renal Insufficiency Chronic	Associate	35045102
Retinitis	Associate	16565411
Rupture	Associate	25301980
Sarcoidosis	Associate	22547807
Sarcoma Ewing	Associate	35955799, 36106829
Sarcoma Kaposi	Associate	22177562
Skin Neoplasms	Associate	11237387
Small Cell Lung Carcinoma	Associate	10473866, 24722482
Squamous Cell Carcinoma of Head and Neck	Associate	15247230, 20666777, 22918226, 25268950, 29719198, 32728068, 33879222, 36765296, 36941602
Status Asthmaticus	Associate	27221564
Stomach Neoplasms	Associate	19586554, 23394613, 23787075, 24669030, 24800696, 24841138, 27562173, 30532247, 30720114, 31560170, 34242818, 34895039
Stomach Neoplasms	Stimulate	25851348, 31619663
Stroke	Associate	37986083
Synovial Cyst	Associate	19248098
Tertiary Lymphoid Structures	Associate	36765296
Thrombosis	Associate	12393408
Thyroid Carcinoma Anaplastic	Associate	32819585
Thyroid Neoplasms	Associate	21493587
Triple Negative Breast Neoplasms	Associate	26504170, 40594223
Tuberculosis	Associate	26091717
Ulcer	Associate	11106568
Urinary Bladder Neoplasms	Associate	31401412, 32049862, 32633349, 38273747
Uterine Cervical Neoplasms	Associate	22438955, 23967226, 26191191, 26825836, 31084453, 32669083
Uveal melanoma	Stimulate	34587931
von Hippel Lindau Disease	Stimulate	15592504
von Hippel Lindau Disease	Associate	17140440
Winchester syndrome	Associate	22922033
Wounds and Injuries	Associate	10531073