ADAM10 (ADAM metallopeptidase domain 10)

Gene

• Entrez ID: 102
• Gene name: ADAM metallopeptidase domain 10
• Gene symbol: ADAM10
• Synonyms (NCBI Gene): AD10, AD18, CD156c, CDw156, HsT18717, MADM, RAK, kuz
• Chromosome: 15
• Chromosome location: 15q21.3
• Summary: Members of the ADAM family are cell surface proteins with a unique structure possessing both potential adhesion and protease domains. This gene encodes and ADAM family member that cleaves many proteins including TNF-alpha and E-cadherin. Alternate splicin

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs61751103	C>G	Risk-factor	Missense variant, coding sequence variant
rs145518263	T>C	Risk-factor	Missense variant, coding sequence variant
rs483352912	G>A	Pathogenic	Coding sequence variant, missense variant
rs483352913	C>T	Pathogenic	Coding sequence variant, missense variant
rs483352914	A>T	Pathogenic	Coding sequence variant, stop gained
rs483352915	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs483352916	C>T	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004879	hsa-miR-122-5p	Luciferase reporter assay, qRT-PCR, Western blot	19726678
MIRT004879	hsa-miR-122-5p	Luciferase reporter assay, qRT-PCR, Western blot	19726678
MIRT021045	hsa-miR-155-5p	Proteomics	21030878
MIRT041888	hsa-miR-484	CLASH	23622248
MIRT728389	hsa-miR-92a-3p	HITS-CLIP	22473208
MIRT728388	hsa-miR-92b-3p	HITS-CLIP	22473208
MIRT728387	hsa-miR-32-5p	HITS-CLIP	22473208
MIRT733467	hsa-miR-451a	Luciferase reporter assay, qRT-PCR, Western blot	25151965
MIRT004879	hsa-miR-122-5p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR	25318895
MIRT004879	hsa-miR-122-5p	Luciferase reporter assay, Microarray, qRT-PCR, Western blotting	32512881
MIRT732711	hsa-miR-144-3p	Luciferase reporter assay, Microarray, qRT-PCR, Western blotting	32512881
MIRT733206	hsa-miR-155-3p	RNA-seq	32751854
MIRT733467	hsa-miR-451a	Western blotting, Immunohistochemistry (IHC), Luciferase reporter assay, qRT-PCR	32710569
MIRT736646	hsa-miR-365a-3p	Luciferase reporter assay, Western blotting, Immunohistochemistry (IHC), qRT-PCR	32284760
MIRT755737	hsa-miR-140-3p	Western blotting	38956605
MIRT765809	hsa-miR-1	CLIP-seq
MIRT765810	hsa-miR-1200	CLIP-seq
MIRT765811	hsa-miR-1227	CLIP-seq
MIRT765812	hsa-miR-1270	CLIP-seq
MIRT765813	hsa-miR-1272	CLIP-seq
MIRT765814	hsa-miR-1279	CLIP-seq
MIRT765815	hsa-miR-1283	CLIP-seq
MIRT765816	hsa-miR-1294	CLIP-seq
MIRT765817	hsa-miR-1302	CLIP-seq
MIRT765818	hsa-miR-143	CLIP-seq
MIRT765819	hsa-miR-15a	CLIP-seq
MIRT765820	hsa-miR-15b	CLIP-seq
MIRT765821	hsa-miR-16	CLIP-seq
MIRT765822	hsa-miR-186	CLIP-seq
MIRT765823	hsa-miR-195	CLIP-seq
MIRT765824	hsa-miR-206	CLIP-seq
MIRT765825	hsa-miR-2113	CLIP-seq
MIRT765826	hsa-miR-25	CLIP-seq
MIRT765827	hsa-miR-3133	CLIP-seq
MIRT765828	hsa-miR-3163	CLIP-seq
MIRT765829	hsa-miR-32	CLIP-seq
MIRT765830	hsa-miR-3201	CLIP-seq
MIRT765831	hsa-miR-323-5p	CLIP-seq
MIRT765832	hsa-miR-330-3p	CLIP-seq
MIRT765833	hsa-miR-3607-5p	CLIP-seq
MIRT765834	hsa-miR-3613-3p	CLIP-seq
MIRT765835	hsa-miR-3614-5p	CLIP-seq
MIRT765836	hsa-miR-363	CLIP-seq
MIRT765837	hsa-miR-3662	CLIP-seq
MIRT765838	hsa-miR-367	CLIP-seq
MIRT765839	hsa-miR-3673	CLIP-seq
MIRT765840	hsa-miR-3689a-5p	CLIP-seq
MIRT765841	hsa-miR-3689b	CLIP-seq
MIRT765842	hsa-miR-3689e	CLIP-seq
MIRT765843	hsa-miR-3689f	CLIP-seq
MIRT765844	hsa-miR-3942-3p	CLIP-seq
MIRT765845	hsa-miR-409-3p	CLIP-seq
MIRT765846	hsa-miR-424	CLIP-seq
MIRT765847	hsa-miR-4263	CLIP-seq
MIRT765848	hsa-miR-4275	CLIP-seq
MIRT765849	hsa-miR-4282	CLIP-seq
MIRT765850	hsa-miR-4298	CLIP-seq
MIRT765851	hsa-miR-4316	CLIP-seq
MIRT765852	hsa-miR-4324	CLIP-seq
MIRT765853	hsa-miR-4422	CLIP-seq
MIRT765854	hsa-miR-4432	CLIP-seq
MIRT765855	hsa-miR-4452	CLIP-seq
MIRT765856	hsa-miR-4524	CLIP-seq
MIRT765857	hsa-miR-4531	CLIP-seq
MIRT765858	hsa-miR-4652-3p	CLIP-seq
MIRT765859	hsa-miR-4659a-3p	CLIP-seq
MIRT765860	hsa-miR-4659a-5p	CLIP-seq
MIRT765861	hsa-miR-4659b-3p	CLIP-seq
MIRT765862	hsa-miR-4659b-5p	CLIP-seq
MIRT765863	hsa-miR-4683	CLIP-seq
MIRT765864	hsa-miR-4694-3p	CLIP-seq
MIRT765865	hsa-miR-4695-3p	CLIP-seq
MIRT765866	hsa-miR-4719	CLIP-seq
MIRT765867	hsa-miR-4770	CLIP-seq
MIRT765868	hsa-miR-4776-3p	CLIP-seq
MIRT765869	hsa-miR-4791	CLIP-seq
MIRT765870	hsa-miR-4803	CLIP-seq
MIRT765871	hsa-miR-494	CLIP-seq
MIRT765872	hsa-miR-496	CLIP-seq
MIRT765873	hsa-miR-497	CLIP-seq
MIRT765874	hsa-miR-499-5p	CLIP-seq
MIRT765875	hsa-miR-503	CLIP-seq
MIRT765876	hsa-miR-5096	CLIP-seq
MIRT765877	hsa-miR-513a-3p	CLIP-seq
MIRT765878	hsa-miR-515-5p	CLIP-seq
MIRT765879	hsa-miR-520d-5p	CLIP-seq
MIRT765880	hsa-miR-524-5p	CLIP-seq
MIRT765881	hsa-miR-544b	CLIP-seq
MIRT765882	hsa-miR-562	CLIP-seq
MIRT765883	hsa-miR-613	CLIP-seq
MIRT765884	hsa-miR-620	CLIP-seq
MIRT765885	hsa-miR-629	CLIP-seq
MIRT765886	hsa-miR-646	CLIP-seq
MIRT765887	hsa-miR-92a	CLIP-seq
MIRT765888	hsa-miR-92b	CLIP-seq
MIRT765814	hsa-miR-1279	CLIP-seq
MIRT765815	hsa-miR-1283	CLIP-seq
MIRT1925659	hsa-miR-140-5p	CLIP-seq
MIRT1925660	hsa-miR-145	CLIP-seq
MIRT765822	hsa-miR-186	CLIP-seq
MIRT1925661	hsa-miR-198	CLIP-seq
MIRT1925662	hsa-miR-2116	CLIP-seq
MIRT765826	hsa-miR-25	CLIP-seq
MIRT765829	hsa-miR-32	CLIP-seq
MIRT765830	hsa-miR-3201	CLIP-seq
MIRT1925663	hsa-miR-3545-5p	CLIP-seq
MIRT1925664	hsa-miR-3591-5p	CLIP-seq
MIRT765836	hsa-miR-363	CLIP-seq
MIRT765838	hsa-miR-367	CLIP-seq
MIRT1925665	hsa-miR-409-5p	CLIP-seq
MIRT1925666	hsa-miR-4460	CLIP-seq
MIRT1925667	hsa-miR-4503	CLIP-seq
MIRT765858	hsa-miR-4652-3p	CLIP-seq
MIRT765859	hsa-miR-4659a-3p	CLIP-seq
MIRT765860	hsa-miR-4659a-5p	CLIP-seq
MIRT765861	hsa-miR-4659b-3p	CLIP-seq
MIRT765862	hsa-miR-4659b-5p	CLIP-seq
MIRT1925668	hsa-miR-4677-5p	CLIP-seq
MIRT765865	hsa-miR-4695-3p	CLIP-seq
MIRT1925669	hsa-miR-4727-3p	CLIP-seq
MIRT765868	hsa-miR-4776-3p	CLIP-seq
MIRT765869	hsa-miR-4791	CLIP-seq
MIRT765871	hsa-miR-494	CLIP-seq
MIRT1925670	hsa-miR-507	CLIP-seq
MIRT1925671	hsa-miR-548n	CLIP-seq
MIRT1925672	hsa-miR-548t	CLIP-seq
MIRT1925673	hsa-miR-557	CLIP-seq
MIRT1925674	hsa-miR-590-3p	CLIP-seq
MIRT1925675	hsa-miR-602	CLIP-seq
MIRT1925676	hsa-miR-892a	CLIP-seq
MIRT765887	hsa-miR-92a	CLIP-seq
MIRT765888	hsa-miR-92b	CLIP-seq
MIRT2167043	hsa-miR-103a	CLIP-seq
MIRT2167044	hsa-miR-107	CLIP-seq
MIRT2167045	hsa-miR-1185	CLIP-seq
MIRT765812	hsa-miR-1270	CLIP-seq
MIRT765816	hsa-miR-1294	CLIP-seq
MIRT2167046	hsa-miR-1324	CLIP-seq
MIRT1925659	hsa-miR-140-5p	CLIP-seq
MIRT2167047	hsa-miR-1537	CLIP-seq
MIRT2167048	hsa-miR-182	CLIP-seq
MIRT2167049	hsa-miR-190	CLIP-seq
MIRT2167050	hsa-miR-190b	CLIP-seq
MIRT2167051	hsa-miR-2276	CLIP-seq
MIRT2167052	hsa-miR-2964a-5p	CLIP-seq
MIRT2167053	hsa-miR-3074-3p	CLIP-seq
MIRT2167054	hsa-miR-31	CLIP-seq
MIRT2167055	hsa-miR-3152-5p	CLIP-seq
MIRT2167056	hsa-miR-3185	CLIP-seq
MIRT765830	hsa-miR-3201	CLIP-seq
MIRT765831	hsa-miR-323-5p	CLIP-seq
MIRT2167057	hsa-miR-34a	CLIP-seq
MIRT2167058	hsa-miR-34c-5p	CLIP-seq
MIRT1925663	hsa-miR-3545-5p	CLIP-seq
MIRT1925664	hsa-miR-3591-5p	CLIP-seq
MIRT2167059	hsa-miR-3605-5p	CLIP-seq
MIRT2167060	hsa-miR-3614-3p	CLIP-seq
MIRT765835	hsa-miR-3614-5p	CLIP-seq
MIRT2167061	hsa-miR-361-5p	CLIP-seq
MIRT2167062	hsa-miR-3663-5p	CLIP-seq
MIRT2167063	hsa-miR-3679-5p	CLIP-seq
MIRT2167064	hsa-miR-3682-3p	CLIP-seq
MIRT2167065	hsa-miR-383	CLIP-seq
MIRT765845	hsa-miR-409-3p	CLIP-seq
MIRT1925665	hsa-miR-409-5p	CLIP-seq
MIRT2167066	hsa-miR-4276	CLIP-seq
MIRT765851	hsa-miR-4316	CLIP-seq
MIRT1925666	hsa-miR-4460	CLIP-seq
MIRT2167067	hsa-miR-4480	CLIP-seq
MIRT2167068	hsa-miR-449b	CLIP-seq
MIRT2167069	hsa-miR-451	CLIP-seq
MIRT2167070	hsa-miR-4527	CLIP-seq
MIRT765857	hsa-miR-4531	CLIP-seq
MIRT2167071	hsa-miR-4649-3p	CLIP-seq
MIRT765859	hsa-miR-4659a-3p	CLIP-seq
MIRT765860	hsa-miR-4659a-5p	CLIP-seq
MIRT765861	hsa-miR-4659b-3p	CLIP-seq
MIRT765862	hsa-miR-4659b-5p	CLIP-seq
MIRT2167072	hsa-miR-4680-5p	CLIP-seq
MIRT2167073	hsa-miR-4714-5p	CLIP-seq
MIRT1925669	hsa-miR-4727-3p	CLIP-seq
MIRT2167074	hsa-miR-4728-3p	CLIP-seq
MIRT2167075	hsa-miR-4763-5p	CLIP-seq
MIRT2167076	hsa-miR-4772-5p	CLIP-seq
MIRT2167077	hsa-miR-4773	CLIP-seq
MIRT2167078	hsa-miR-4774-3p	CLIP-seq
MIRT765868	hsa-miR-4776-3p	CLIP-seq
MIRT765869	hsa-miR-4791	CLIP-seq
MIRT765870	hsa-miR-4803	CLIP-seq
MIRT2167079	hsa-miR-509-3p	CLIP-seq
MIRT765878	hsa-miR-515-5p	CLIP-seq
MIRT2167080	hsa-miR-548ac	CLIP-seq
MIRT2167081	hsa-miR-548d-3p	CLIP-seq
MIRT2167082	hsa-miR-548z	CLIP-seq
MIRT2167083	hsa-miR-570	CLIP-seq
MIRT1925675	hsa-miR-602	CLIP-seq
MIRT765884	hsa-miR-620	CLIP-seq
MIRT765885	hsa-miR-629	CLIP-seq
MIRT2167084	hsa-miR-891a	CLIP-seq
MIRT2469512	hsa-miR-122	CLIP-seq
MIRT765812	hsa-miR-1270	CLIP-seq
MIRT765813	hsa-miR-1272	CLIP-seq
MIRT765816	hsa-miR-1294	CLIP-seq
MIRT765818	hsa-miR-143	CLIP-seq
MIRT765826	hsa-miR-25	CLIP-seq
MIRT2469513	hsa-miR-3198	CLIP-seq
MIRT765829	hsa-miR-32	CLIP-seq
MIRT2469514	hsa-miR-320a	CLIP-seq
MIRT2469515	hsa-miR-320b	CLIP-seq
MIRT2469516	hsa-miR-320c	CLIP-seq
MIRT2469517	hsa-miR-320d	CLIP-seq
MIRT2469518	hsa-miR-3622a-5p	CLIP-seq
MIRT765836	hsa-miR-363	CLIP-seq
MIRT765838	hsa-miR-367	CLIP-seq
MIRT2469519	hsa-miR-4309	CLIP-seq
MIRT765851	hsa-miR-4316	CLIP-seq
MIRT2469520	hsa-miR-4423-3p	CLIP-seq
MIRT2469521	hsa-miR-4429	CLIP-seq
MIRT2469522	hsa-miR-4446-5p	CLIP-seq
MIRT2469523	hsa-miR-4464	CLIP-seq
MIRT2469524	hsa-miR-4476	CLIP-seq
MIRT765857	hsa-miR-4531	CLIP-seq
MIRT2469525	hsa-miR-4670-3p	CLIP-seq
MIRT765863	hsa-miR-4683	CLIP-seq
MIRT2469526	hsa-miR-4748	CLIP-seq
MIRT2469527	hsa-miR-4753-3p	CLIP-seq
MIRT2469528	hsa-miR-4768-5p	CLIP-seq
MIRT765867	hsa-miR-4770	CLIP-seq
MIRT2469529	hsa-miR-548b-3p	CLIP-seq
MIRT765884	hsa-miR-620	CLIP-seq
MIRT765885	hsa-miR-629	CLIP-seq
MIRT2469530	hsa-miR-633	CLIP-seq
MIRT2469531	hsa-miR-9	CLIP-seq
MIRT765887	hsa-miR-92a	CLIP-seq
MIRT765888	hsa-miR-92b	CLIP-seq
MIRT2469512	hsa-miR-122	CLIP-seq
MIRT765812	hsa-miR-1270	CLIP-seq
MIRT765813	hsa-miR-1272	CLIP-seq
MIRT765816	hsa-miR-1294	CLIP-seq
MIRT765818	hsa-miR-143	CLIP-seq
MIRT2469513	hsa-miR-3198	CLIP-seq
MIRT2469518	hsa-miR-3622a-5p	CLIP-seq
MIRT2469519	hsa-miR-4309	CLIP-seq
MIRT765851	hsa-miR-4316	CLIP-seq
MIRT2469520	hsa-miR-4423-3p	CLIP-seq
MIRT2469522	hsa-miR-4446-5p	CLIP-seq
MIRT2469523	hsa-miR-4464	CLIP-seq
MIRT2469524	hsa-miR-4476	CLIP-seq
MIRT765857	hsa-miR-4531	CLIP-seq
MIRT2469525	hsa-miR-4670-3p	CLIP-seq
MIRT765863	hsa-miR-4683	CLIP-seq
MIRT2469526	hsa-miR-4748	CLIP-seq
MIRT2469527	hsa-miR-4753-3p	CLIP-seq
MIRT2469528	hsa-miR-4768-5p	CLIP-seq
MIRT765867	hsa-miR-4770	CLIP-seq
MIRT2469529	hsa-miR-548b-3p	CLIP-seq
MIRT765884	hsa-miR-620	CLIP-seq
MIRT765885	hsa-miR-629	CLIP-seq
MIRT2469530	hsa-miR-633	CLIP-seq
MIRT2469531	hsa-miR-9	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
PAX2	Unknown	21876729;21880579
SP1	Activation	21854868

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0001701	Process	In utero embryonic development	IEA
GO:0001701	Process	In utero embryonic development	ISS
GO:0004175	Function	Endopeptidase activity	IEA
GO:0004175	Function	Endopeptidase activity	IMP	24990881, 28855301, 29430990
GO:0004175	Function	Endopeptidase activity	ISS
GO:0004222	Function	Metalloendopeptidase activity	IDA	18355445, 18676862
GO:0004222	Function	Metalloendopeptidase activity	IEA
GO:0004222	Function	Metalloendopeptidase activity	IMP	19114711
GO:0004222	Function	Metalloendopeptidase activity	ISS
GO:0004222	Function	Metalloendopeptidase activity	NAS	8694785
GO:0004222	Function	Metalloendopeptidase activity	TAS
GO:0005178	Function	Integrin binding	NAS	8694785
GO:0005515	Function	Protein binding	IPI	10527948, 15280379, 17301176, 19587294, 20624979, 23091066, 23289620, 23676497, 25036101, 26686862, 30312582, 30463011, 30538620, 31792032, 32814053, 32900848, 33961781, 34739841
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005794	Component	Golgi apparatus	IDA	12475894
GO:0005794	Component	Golgi apparatus	IEA
GO:0005798	Component	Golgi-associated vesicle	IDA	12475894
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IMP	20624979, 28164773
GO:0005886	Component	Plasma membrane	TAS
GO:0005912	Component	Adherens junction	IEA
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0006508	Process	Proteolysis	IEA
GO:0006509	Process	Membrane protein ectodomain proteolysis	IBA
GO:0006509	Process	Membrane protein ectodomain proteolysis	IDA	18355449
GO:0006509	Process	Membrane protein ectodomain proteolysis	IDA	12714508, 17557115, 18355445, 18419754, 18676862, 19114711, 31792032, 34739841
GO:0006509	Process	Membrane protein ectodomain proteolysis	IEA
GO:0006509	Process	Membrane protein ectodomain proteolysis	IMP	17965014, 18355445, 18373975, 20711474, 24990881, 28164773, 28855301, 29430990
GO:0007162	Process	Negative regulation of cell adhesion	IDA	12714508
GO:0007162	Process	Negative regulation of cell adhesion	NAS	8694785
GO:0007219	Process	Notch signaling pathway	IBA
GO:0007219	Process	Notch signaling pathway	IEA
GO:0007219	Process	Notch signaling pathway	ISS
GO:0007229	Process	Integrin-mediated signaling pathway	NAS	8694785
GO:0007267	Process	Cell-cell signaling	NAS	12714508
GO:0008233	Function	Peptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	IDA	12475894
GO:0008237	Function	Metallopeptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	IMP	12535668
GO:0008284	Process	Positive regulation of cell population proliferation	IMP	18373975
GO:0008593	Process	Regulation of Notch signaling pathway	IEA
GO:0009986	Component	Cell surface	IDA	12475894, 23035126, 23091066
GO:0009986	Component	Cell surface	IEA
GO:0010629	Process	Negative regulation of gene expression	IMP	24530397
GO:0010820	Process	Positive regulation of T cell chemotaxis	IMP	18373975
GO:0014069	Component	Postsynaptic density	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	8694785
GO:0016485	Process	Protein processing	IEA
GO:0016485	Process	Protein processing	ISS
GO:0016787	Function	Hydrolase activity	IEA
GO:0017124	Function	SH3 domain binding	IEA
GO:0019901	Function	Protein kinase binding	IEA
GO:0022617	Process	Extracellular matrix disassembly	TAS
GO:0030136	Component	Clathrin-coated vesicle	IEA
GO:0030307	Process	Positive regulation of cell growth	IMP	18373975
GO:0030335	Process	Positive regulation of cell migration	IMP	18373975
GO:0030424	Component	Axon	IEA
GO:0030425	Component	Dendrite	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032760	Process	Positive regulation of tumor necrosis factor production	IDA	18355445
GO:0034332	Process	Adherens junction organization	IEA
GO:0034612	Process	Response to tumor necrosis factor	IDA	11831872
GO:0035579	Component	Specific granule membrane	TAS
GO:0038004	Process	Epidermal growth factor receptor ligand maturation	IEA
GO:0042117	Process	Monocyte activation	IMP	11831872
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0042803	Function	Protein homodimerization activity	IPI	25349418
GO:0042987	Process	Amyloid precursor protein catabolic process	IMP	28164773
GO:0042987	Process	Amyloid precursor protein catabolic process	ISS
GO:0042995	Component	Cell projection	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0046930	Component	Pore complex	IEA
GO:0046930	Component	Pore complex	IMP	30463011
GO:0046931	Process	Pore complex assembly	IEA
GO:0046931	Process	Pore complex assembly	IMP	30463011
GO:0051089	Process	Constitutive protein ectodomain proteolysis	IDA	12714508
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:0070161	Component	Anchoring junction	IEA
GO:0070573	Function	Metallodipeptidase activity	IEA
GO:0070821	Component	Tertiary granule membrane	TAS
GO:0090102	Process	Cochlea development	IEA
GO:0097038	Component	Perinuclear endoplasmic reticulum	IDA	23091066
GO:0097060	Component	Synaptic membrane	IBA
GO:0097060	Component	Synaptic membrane	IDA	23676497
GO:0097060	Component	Synaptic membrane	IEA
GO:0097197	Component	Tetraspanin-enriched microdomain	IDA	23035126
GO:0098696	Process	Regulation of neurotransmitter receptor localization to postsynaptic specialization membrane	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099173	Process	Postsynapse organization	IEA
GO:0099175	Process	Regulation of postsynapse organization	IEA
GO:0140249	Process	Protein catabolic process at postsynapse	IEA
GO:0140448	Process	Signaling receptor ligand precursor processing	IEA
GO:1901342	Process	Regulation of vasculature development	IEA
GO:1902945	Function	Metalloendopeptidase activity involved in amyloid precursor protein catabolic process	IBA
GO:1902945	Function	Metalloendopeptidase activity involved in amyloid precursor protein catabolic process	IMP	28164773
GO:1902945	Function	Metalloendopeptidase activity involved in amyloid precursor protein catabolic process	ISS
GO:1903265	Process	Positive regulation of tumor necrosis factor-mediated signaling pathway	IDA	18355445

Other IDs

• MIM: 602192
• HGNC: 188
• e!Ensembl: ENSG00000137845

Protein

• UniProt ID: O14672
• Protein name: Disintegrin and metalloproteinase domain-containing protein 10 (ADAM 10) (EC 3.4.24.81) (CDw156) (Kuzbanian protein homolog) (Mammalian disintegrin-metalloprotease) (CD antigen CD156c)
• Protein function: Transmembrane metalloprotease which mediates the ectodomain shedding of a myriad of transmembrane proteins, including adhesion proteins, growth factor precursors and cytokines being essential for development and tissue homeostasis (PubMed:117869
• PDB: 6BDZ, 6BE6, 8ESV
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01562	Pep_M12B_propep	27 → 156	Reprolysin family propeptide	Family
  PF13574	Reprolysin_2	239 → 446		Domain
  PF00200	Disintegrin	466 → 546	Disintegrin	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the brain (at protein level) (PubMed:23676497). Expressed in spleen, lymph node, thymus, peripheral blood leukocyte, bone marrow, cartilage, chondrocytes and fetal liver (PubMed:11511685, PubMed:9016778). {ECO:0000269|PubM
• Sequence:

  MVLLRVLILLLSWAAGMGGQYGNPLNKYIRHYEGLSYNVDSLHQKHQRAKRAVSHEDQFL
  RLDFHAHGRHFNLRMKRDTSLFSDEFKVETSNKVLDYDTSHIYTGHIYGEEGSFSHGSVI
  DGRFEGFIQTRGGTFYVEPAERYIKDRTLPFHSVIYHEDDINYPHKYGPQGGCADHSVFE
  RMRKYQMTGVEEVTQIPQEEHAANGPELLRKKRTTSAEKNTCQLYIQTDHLFFKYYGTRE
  AVIAQISSHVKAIDTIYQTTDFSGIRNISFMVKRIRINTTADEKDPTNPFRFPNIGVEKF
  LELNSEQNHDDYCLAYVFTDRDFDDGVLGLAWVGAPSGSSGGICEKSKLYSDGKKKSLNT
  GIITVQNYGSHVPPKVSHITFAHEVGHNFGSPHDSGTECTPGESKNLGQKENGNYIMYAR
  ATSGDKLNNNKFSLCSIRNISQVLEKKRNNCFVESGQPICGNGMVEQGEECDCGYSDQCK
  DECCFDANQPEGRKCKLKPGKQCSPSQGPCCTAQCAFKSKSEKCRDDSDCAREGICNGFT
  ALCPASDPKPNFTDCNRHTQVCINGQCAGSICEKYGLEECTCASSDGKDDKELCHVCCMK
  KMDPSTCASTGSVQWSRHFSGRTITLQPGSPCNDFRGYCDVFMRCRLVDADGPLARLKKA
  IFSPELYENIAEWIVAHWWAVLLMGIALIMLMAGFIKICSVHTPSSNPKLPPPKPLPGTL
  KRRRPPQPIQQPQRQRPRESYQMGHMRR

• Sequence length: 748

Pathways

KEGG:

Efferocytosis
Alzheimer disease
Epithelial cell signaling in Helicobacter pylori infection

Reactome:

Degradation of the extracellular matrix
Constitutive Signaling by NOTCH1 PEST Domain Mutants
Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant
Constitutive Signaling by NOTCH1 HD Domain Mutants
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Neutrophil degranulation
Post-translational protein phosphorylation
NOTCH3 Activation and Transmission of Signal to the Nucleus
Amyloid fiber formation

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
Reticulate acropigmentation of Kitamura	Pathogenic	rs483352913, rs483352914, rs483352915, rs483352916	RCV000074428 RCV000074429 RCV000074430 RCV000074431	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ADAM10-related disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer disease 18	Benign; Likely benign; Uncertain significance; risk factor	ClinVar CTD, ClinVar, Disgenet CTD, ClinVar, Disgenet CTD, ClinVar, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ALZHEIMERS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corticobasal syndrome	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DOWLING-DEGOS DISEASE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IGA GLOMERULONEPHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-ONSET ALZHEIMER'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Confusional Senile Dementia	Senile Dementia	CTD_human_DG	30820047		★☆☆☆☆ Found in Text Mining only
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	31165998		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	BEFREE	21171968		★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	29721369		★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	26250527		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	19183255, 19221430, 21196064, 22572541, 22594617, 23546882, 26343025, 29253717, 29777097, 29988083, 31843015, 33129344, 33152005, 35705192, 36411364, 37047093, 37959001	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer Disease	Alzheimer disease	Pubtator	26555131, 33731436	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE 18	Alzheimer disease	UNIPROT_DG	19608551, 24055016		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ALZHEIMER DISEASE 18	Alzheimer disease	CTD_human_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ALZHEIMER DISEASE 18	Alzheimer disease	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Alzheimer Disease, Early Onset	Alzheimer disease	CTD_human_DG	30820047		★☆☆☆☆ Found in Text Mining only
Alzheimer disease, familial, type 3	Alzheimer disease	BEFREE	27818272		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	24139026, 30692041		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	CTD_human_DG	30820047		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	GWASCAT_DG	30617256		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	CTD_human_DG	30820047		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease, Focal Onset	Alzheimer disease	CTD_human_DG	30820047		★☆☆☆☆ Found in Text Mining only
Amelogenesis Imperfecta	Amelogenesis imperfecta	BEFREE	31575895		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	21289607, 22572541, 24903973, 26080426, 27503326, 28603494, 29331531, 30803762		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	Pubtator	33419465	Associate	★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	20596609		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	28357407		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	23101757, 23773531, 30926762		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	26135838		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	15880344	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	28620033, 28703301, 30013551		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	23101757, 23773531, 30926762		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	23773531, 35705192	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	11839628		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	LHGDN	11839628		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	28960088		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	25505277, 30610163		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	33152005	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	24935471		★☆☆☆☆ Found in Text Mining only
Blister	Blister	Pubtator	18200054	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	28455399		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	16583263		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	16627989, 21854868, 25150980, 25318895, 28161636, 28703301, 30470613, 30661303, 31786854, 9029174		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	16627989, 19603142, 19783906, 26284334, 32782317	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bullous pemphigoid	Bullous Pemphigoid	BEFREE	29054606		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	19783906	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	22581584, 23936798, 24670536, 27259866, 30275760, 33206588, 36708563, 37530332	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	39346916	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Merkel Cell	Merkel cell carcinoma	Pubtator	30188954	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	24935471		★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	28454261		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	27602753	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	19826413, 28232483, 30792527		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	29067106		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	28687716, 29137243		★☆☆☆☆ Found in Text Mining only
Cerebral Amyloid Angiopathy	Cerebral amyloid angiopathy	BEFREE	28437250		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	23773531		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	28620033		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular disorder	Pubtator	35609807	Associate	★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	29604594		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	29604594		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	35223192	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	30117015		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	19221420, 29858162, 31063986		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	33942972, 36229517	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	27837433		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	17699774		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31565100		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	15716380		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	16207476, 27517630	Associate	★☆☆☆☆ Found in Text Mining only
Conduct Disorder	Conduct Disorder	BEFREE	21611732		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	19070478, 21880579		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	30067156		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	18339644, 30067156		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	30067156		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	24635637		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	28431511, 29843245		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dementia	Dementia	Pubtator	31836585	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	BEFREE	21611732, 28431511, 28614836		★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	Pubtator	36768791	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	28960088		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	24386293		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	24386293		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	26325204	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	35705192	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	26325204	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	35705192	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	21103979, 29251519		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	26990852	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	21103979		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	31033093		★☆☆☆☆ Found in Text Mining only
dowling-degos disease	Dowling-Degos Disease	BEFREE	23666529		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
dowling-degos disease	Dowling-Degos Disease	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dowling-Degos disease 1	Dowling-Degos Disease	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	31843015	Associate	★☆☆☆☆ Found in Text Mining only
Dry Eye Syndromes	Dry eye syndrome	Pubtator	36499565	Associate	★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	LHGDN	18200054		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	Pubtator	18200054	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	30075790, 31114485		★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	30075790, 31114485		★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	BEFREE	20381196		★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	CTD_human_DG	30820047		★☆☆☆☆ Found in Text Mining only
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	27026568		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	19432809		★☆☆☆☆ Found in Text Mining only
Fragile X Syndrome	Fragile X Syndrome	BEFREE	26182420		★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	33152005	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	19357285, 25948484, 27541285		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	19357285, 27541285, 31142630	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	19357285, 25948484, 27541285		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	19357285	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	21373966		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	BEFREE	30067156		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis Membranous	Membranous glomerulonephritis	Pubtator	19435795	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	22167753, 29721369		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	22167753	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	31063986		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	23805206		★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	33416124	Associate	★☆☆☆☆ Found in Text Mining only
Hypocholesterolemia	Hypocholesterolemia	BEFREE	21087933		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	31402756	Stimulate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	29058717		★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	BEFREE	29223855		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	19221420, 28079060, 29858162, 31063986		★☆☆☆☆ Found in Text Mining only
Intussusception	Intussusception	BEFREE	29397483		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	19435795	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	20070888, 30460232		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	24662289		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	19704010		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	19783906	Stimulate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	19826051, 22581584, 23912592, 23936798, 24670536, 25176394, 25242535, 25323956, 27259866, 28184920, 30275760, 31270840		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	19432809	Associate	★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	19432809	Associate	★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	22594617	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	27237127, 30610163		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	27237127, 30610163		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	27237127, 30610163		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	27237127, 30610163		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	28656294	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	30275760, 35771404	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative Disorder	BEFREE	30610163		★☆☆☆☆ Found in Text Mining only
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	BEFREE	21441465		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	16583263		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	16627989, 21854868, 25150980, 25318895, 28161636, 28703301, 30470613, 30661303, 31786854, 9029174		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	21880579		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	25176394		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	19826413, 28232483, 30792527		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	20596609		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	14734484, 17727679, 9500213		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	26852749, 29152656, 31026069		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	24935471		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17875701, 20596609, 21171968, 21880579, 22006996, 23035126, 23912592, 25151965, 25176394, 25318895, 25323956, 27541285, 28620033, 28624438, 29187866, 29437707, 30102846, 30275760, 30582284, 30599067, 31343810, 31593799, 9029174		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	29604594		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	27837433		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	16583263		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	16583263		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	27554339		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	16583263		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	21441465		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	18971959, 19434087, 19865098, 21876729, 23317503, 26266086	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	19865098, 21876729, 24492617		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	21611732, 28431511, 28614836		★☆☆☆☆ Found in Text Mining only
Merkel cell carcinoma	Merkel cell carcinoma	BEFREE	30188954		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	30651596		★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	26220620, 29372597, 31356205		★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	29895129	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	26071561	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	1370765		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	28620033		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	27012683, 29484441		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	29484441	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	26310711	Stimulate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16207476, 19070478, 21171968, 21441465, 21789719, 22006996, 23526433, 23912592, 24492617, 24670536, 24935471, 25176394, 25318895, 25323956, 26986985, 27259866, 27628319, 28656294, 29152656, 29308299, 29776401, 31190882		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	26499864, 31114485		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	16279945, 16762326, 19144697, 19679113, 20224284, 21403388, 22301853, 22572541, 24608847, 27472877, 29942252, 30599067		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	29777097, 36229517	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	23413979, 27472877, 28367112, 28437250, 28960088		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	28960088		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	22940701, 30026855, 31190882		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	24548763	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	19826413, 28232483, 30792527		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	24518602, 28232483, 30792527, 36922678	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	20596609		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	24625754, 26440150, 31402756	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	20596609		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	25808939		★☆☆☆☆ Found in Text Mining only
Pemphigus Vulgaris	Pemphigus Vulgaris	BEFREE	31370093		★☆☆☆☆ Found in Text Mining only
Polyarteritis Nodosa	Polyarteritis Nodosa	BEFREE	31343810		★☆☆☆☆ Found in Text Mining only
POLYARTERITIS NODOSA, CHILDHOOD-ONSET	Polyarteritis Nodosa	BEFREE	31343810		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	25492927		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	28431511, 29843245		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	CTD_human_DG	30820047		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	14734484, 17727679, 9500213		★☆☆☆☆ Found in Text Mining only
Prostatic Diseases	Prostatic Diseases	BEFREE	14734484		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	17727679		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	30974114	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	29058717		★☆☆☆☆ Found in Text Mining only
Purpura Fulminans	Purpura Fulminans	BEFREE	29630665		★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	21880579		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	19070478, 21880579		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	30117015		★☆☆☆☆ Found in Text Mining only
Reticulate acropigmentation of Kitamura	Reticulate Acropigmentation Of Kitamura	BEFREE	23666529, 30692041		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Reticulate acropigmentation of Kitamura	Reticulate Acropigmentation Of Kitamura	GENOMICS_ENGLAND_DG	23666529		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Reticulate acropigmentation of Kitamura	Reticulate Acropigmentation Of Kitamura	ORPHANET_DG	23666529		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Reticulate acropigmentation of Kitamura	Reticulate Acropigmentation Of Kitamura	UNIPROT_DG	23666529		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Reticulate acropigmentation of Kitamura	Reticulate Acropigmentation Of Kitamura	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Reticulate acropigmentation of Kitamura	Reticulate Acropigmentation Of Kitamura	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Reticulate acropigmentation of Kitamura	Reticulate Acropigmentation Of Kitamura	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinoblastoma	Retinoblastoma	Pubtator	36293469	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	26135838, 27846745, 29693139		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	28991256, 30285260		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	33070392, 35163460	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scott Syndrome	Scott Syndrome	BEFREE	30753537		★☆☆☆☆ Found in Text Mining only
Senile Plaques	Senile Plaques	BEFREE	21605036, 22572541, 30836275, 31114953		★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	25888255, 31780861	Associate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	25888255, 26067604, 31387910, 31780861		★☆☆☆☆ Found in Text Mining only
Sick Sinus Syndrome	Sick sinus syndrome	Pubtator	36171622	Stimulate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	16309826, 24055471, 26090866, 31395417		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	16309826		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	26986985		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	24055471, 25333745, 28656294, 29895129, 35771404, 36946281	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	27628319	Inhibit	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the hypopharynx	Hypopharyngeal Carcinoma	BEFREE	26704053, 28656294		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	24530397, 25333745		★☆☆☆☆ Found in Text Mining only
Stage IV Skin Melanoma	Skin Melanoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	31114485		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	26852749, 29152656, 31026069		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	15300588		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	26852749, 36171622	Associate	★☆☆☆☆ Found in Text Mining only
Tic disorder	Tic Disorder	BEFREE	26499864		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	31786854, 31796994		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	31786854, 31796994	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	24935471	Associate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	25124714		★☆☆☆☆ Found in Text Mining only
Vitamin A Deficiency	Vitamin A Deficiency	BEFREE	27335034		★☆☆☆☆ Found in Text Mining only