ADAM9 (ADAM metallopeptidase domain 9)

Gene

• Entrez ID: 8754
• Gene name: ADAM metallopeptidase domain 9
• Gene symbol: ADAM9
• Synonyms (NCBI Gene): CORD9, MCMP, MDC9, Mltng
• Chromosome: 8
• Chromosome location: 8p11.22
• Summary: This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs137853040	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs137853041	C>G,T	Pathogenic	Non coding transcript variant, missense variant, stop gained, coding sequence variant
rs146980702	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, non coding transcript variant, missense variant
rs786205085	G>A	Pathogenic	Splice donor variant
rs786205086	A>G	Pathogenic	Intron variant
rs786205151	A>G	Pathogenic	Splice acceptor variant
rs1057518208	G>A	Pathogenic	Splice acceptor variant
rs1588350497	T>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1588391640	C>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT002555	hsa-miR-373-3p	Microarray	15685193
MIRT007266	hsa-miR-126-3p	Luciferase reporter assay	23437250
MIRT007266	hsa-miR-126-3p	Luciferase reporter assay	23437250
MIRT007267	hsa-miR-126-5p	Luciferase reporter assay	23437250
MIRT007267	hsa-miR-126-5p	Luciferase reporter assay	23437250
MIRT002555	hsa-miR-373-3p	Microarray;Other	15685193
MIRT030283	hsa-miR-26b-5p	Microarray	19088304
MIRT050441	hsa-miR-23a-3p	CLASH	23622248
MIRT007266	hsa-miR-126-3p	Immunohistochemistry, In situ hybridization, Microarray, qRT-PCR, Western blot	22064652
MIRT054873	hsa-miR-125a-5p	qRT-PCR	24675842
MIRT007266	hsa-miR-126-3p	Western blot	24823697
MIRT007266	hsa-miR-126-3p	Western blot	24823697
MIRT705915	hsa-miR-543	HITS-CLIP	23313552
MIRT705914	hsa-miR-30c-5p	HITS-CLIP	23313552
MIRT705913	hsa-miR-30a-5p	HITS-CLIP	23313552
MIRT705912	hsa-miR-30d-5p	HITS-CLIP	23313552
MIRT705911	hsa-miR-30b-5p	HITS-CLIP	23313552
MIRT705910	hsa-miR-30e-5p	HITS-CLIP	23313552
MIRT402487	hsa-miR-3646	HITS-CLIP	23313552
MIRT402486	hsa-miR-1252-3p	HITS-CLIP	23313552
MIRT705909	hsa-miR-451b	HITS-CLIP	23313552
MIRT705908	hsa-miR-4495	HITS-CLIP	23313552
MIRT705907	hsa-miR-1228-3p	HITS-CLIP	23313552
MIRT705906	hsa-miR-1180-5p	HITS-CLIP	23313552
MIRT705905	hsa-miR-7114-3p	HITS-CLIP	23313552
MIRT705904	hsa-miR-633	HITS-CLIP	23313552
MIRT705903	hsa-miR-4666a-5p	HITS-CLIP	23313552
MIRT705902	hsa-miR-4799-5p	HITS-CLIP	23313552
MIRT609483	hsa-miR-8485	HITS-CLIP	23824327
MIRT609482	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609481	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609480	hsa-miR-603	HITS-CLIP	23824327
MIRT609479	hsa-miR-3941	HITS-CLIP	23824327
MIRT609483	hsa-miR-8485	HITS-CLIP	23824327
MIRT609482	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609481	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609480	hsa-miR-603	HITS-CLIP	23824327
MIRT609479	hsa-miR-3941	HITS-CLIP	23824327
MIRT609483	hsa-miR-8485	HITS-CLIP	23824327
MIRT609482	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609481	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609480	hsa-miR-603	HITS-CLIP	23824327
MIRT609479	hsa-miR-3941	HITS-CLIP	23824327
MIRT609483	hsa-miR-8485	HITS-CLIP	23824327
MIRT609482	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609481	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609480	hsa-miR-603	HITS-CLIP	23824327
MIRT609479	hsa-miR-3941	HITS-CLIP	23824327
MIRT609483	hsa-miR-8485	HITS-CLIP	23824327
MIRT609482	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609481	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609480	hsa-miR-603	HITS-CLIP	23824327
MIRT609479	hsa-miR-3941	HITS-CLIP	23824327
MIRT609483	hsa-miR-8485	HITS-CLIP	23824327
MIRT609482	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609481	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609480	hsa-miR-603	HITS-CLIP	23824327
MIRT609479	hsa-miR-3941	HITS-CLIP	23824327
MIRT609483	hsa-miR-8485	HITS-CLIP	23824327
MIRT609482	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609481	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609480	hsa-miR-603	HITS-CLIP	23824327
MIRT628488	hsa-miR-4520-5p	HITS-CLIP	23824327
MIRT609479	hsa-miR-3941	HITS-CLIP	23824327
MIRT609483	hsa-miR-8485	HITS-CLIP	23824327
MIRT609482	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609481	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609480	hsa-miR-603	HITS-CLIP	23824327
MIRT609479	hsa-miR-3941	HITS-CLIP	23824327
MIRT609483	hsa-miR-8485	HITS-CLIP	23824327
MIRT609482	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609481	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609480	hsa-miR-603	HITS-CLIP	23824327
MIRT609479	hsa-miR-3941	HITS-CLIP	23824327
MIRT609483	hsa-miR-8485	HITS-CLIP	23824327
MIRT609482	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609481	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609480	hsa-miR-603	HITS-CLIP	23824327
MIRT609479	hsa-miR-3941	HITS-CLIP	23824327
MIRT007266	hsa-miR-126-3p	In situ hybridization, Microarray, Luciferase reporter assay	25512445
MIRT007266	hsa-miR-126-3p	In situ hybridization, Microarray, Luciferase reporter assay	25512445
MIRT007266	hsa-miR-126-3p	In situ hybridization, Microarray, Luciferase reporter assay	25512445
MIRT007266	hsa-miR-126-3p	In situ hybridization, Microarray, Luciferase reporter assay	25512445
MIRT007266	hsa-miR-126-3p	Luciferase reporter assay, Western blot	26244545
MIRT007266	hsa-miR-126-3p	Luciferase reporter assay, Western blot	26244545
MIRT007266	hsa-miR-126-3p	Luciferase reporter assay, Western blot	26244545
MIRT007266	hsa-miR-126-3p	Luciferase reporter assay, Western blot	26244545
MIRT007266	hsa-miR-126-3p	Luciferase reporter assay, qRT-PCR, Western blot	28260063
MIRT007266	hsa-miR-126-3p	Luciferase reporter assay, qRT-PCR, Western blot	28260063
MIRT732750	hsa-miR-498	Immunohistochemistry (IHC), Luciferase reporter assay, Western blotting	34187214
MIRT705915	hsa-miR-543	HITS-CLIP	23313552
MIRT705914	hsa-miR-30c-5p	HITS-CLIP	23313552
MIRT705913	hsa-miR-30a-5p	HITS-CLIP	23313552
MIRT705912	hsa-miR-30d-5p	HITS-CLIP	23313552
MIRT705911	hsa-miR-30b-5p	HITS-CLIP	23313552
MIRT705910	hsa-miR-30e-5p	HITS-CLIP	23313552
MIRT402487	hsa-miR-3646	HITS-CLIP	23313552
MIRT402486	hsa-miR-1252-3p	HITS-CLIP	23313552
MIRT705909	hsa-miR-451b	HITS-CLIP	23313552
MIRT705908	hsa-miR-4495	HITS-CLIP	23313552
MIRT705907	hsa-miR-1228-3p	HITS-CLIP	23313552
MIRT705906	hsa-miR-1180-5p	HITS-CLIP	23313552
MIRT705905	hsa-miR-7114-3p	HITS-CLIP	23313552
MIRT705904	hsa-miR-633	HITS-CLIP	23313552
MIRT705903	hsa-miR-4666a-5p	HITS-CLIP	23313552
MIRT705902	hsa-miR-4799-5p	HITS-CLIP	23313552
MIRT609483	hsa-miR-8485	HITS-CLIP	23824327
MIRT609482	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609481	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609480	hsa-miR-603	HITS-CLIP	23824327
MIRT609479	hsa-miR-3941	HITS-CLIP	23824327
MIRT609483	hsa-miR-8485	HITS-CLIP	23824327
MIRT609482	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609481	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609480	hsa-miR-603	HITS-CLIP	23824327
MIRT609479	hsa-miR-3941	HITS-CLIP	23824327
MIRT609483	hsa-miR-8485	HITS-CLIP	23824327
MIRT609482	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609481	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609480	hsa-miR-603	HITS-CLIP	23824327
MIRT609479	hsa-miR-3941	HITS-CLIP	23824327
MIRT609483	hsa-miR-8485	HITS-CLIP	23824327
MIRT609482	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609481	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609480	hsa-miR-603	HITS-CLIP	23824327
MIRT609479	hsa-miR-3941	HITS-CLIP	23824327
MIRT609483	hsa-miR-8485	HITS-CLIP	23824327
MIRT609482	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609481	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609480	hsa-miR-603	HITS-CLIP	23824327
MIRT609479	hsa-miR-3941	HITS-CLIP	23824327
MIRT609483	hsa-miR-8485	HITS-CLIP	23824327
MIRT609482	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609481	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609480	hsa-miR-603	HITS-CLIP	23824327
MIRT609479	hsa-miR-3941	HITS-CLIP	23824327
MIRT609483	hsa-miR-8485	HITS-CLIP	23824327
MIRT609482	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609481	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609480	hsa-miR-603	HITS-CLIP	23824327
MIRT628488	hsa-miR-4520-5p	HITS-CLIP	23824327
MIRT609479	hsa-miR-3941	HITS-CLIP	23824327
MIRT609483	hsa-miR-8485	HITS-CLIP	23824327
MIRT609482	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609481	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609480	hsa-miR-603	HITS-CLIP	23824327
MIRT609479	hsa-miR-3941	HITS-CLIP	23824327
MIRT609483	hsa-miR-8485	HITS-CLIP	23824327
MIRT609482	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609481	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609480	hsa-miR-603	HITS-CLIP	23824327
MIRT609479	hsa-miR-3941	HITS-CLIP	23824327
MIRT609483	hsa-miR-8485	HITS-CLIP	23824327
MIRT609482	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609481	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609480	hsa-miR-603	HITS-CLIP	23824327
MIRT609479	hsa-miR-3941	HITS-CLIP	23824327
MIRT007266	hsa-miR-126-3p	Luciferase reporter assay, Western blotting, qRT-PCR	36171576
MIRT766201	hsa-miR-106a	CLIP-seq
MIRT766202	hsa-miR-106b	CLIP-seq
MIRT766203	hsa-miR-1178	CLIP-seq
MIRT766204	hsa-miR-125b	CLIP-seq
MIRT766205	hsa-miR-1272	CLIP-seq
MIRT766206	hsa-miR-129-5p	CLIP-seq
MIRT766207	hsa-miR-1298	CLIP-seq
MIRT766208	hsa-miR-1322	CLIP-seq
MIRT766209	hsa-miR-17	CLIP-seq
MIRT766210	hsa-miR-191	CLIP-seq
MIRT766211	hsa-miR-2052	CLIP-seq
MIRT766212	hsa-miR-20a	CLIP-seq
MIRT766213	hsa-miR-20b	CLIP-seq
MIRT766214	hsa-miR-21	CLIP-seq
MIRT766215	hsa-miR-2113	CLIP-seq
MIRT766216	hsa-miR-223	CLIP-seq
MIRT766217	hsa-miR-27a	CLIP-seq
MIRT766218	hsa-miR-27b	CLIP-seq
MIRT766219	hsa-miR-302a	CLIP-seq
MIRT766220	hsa-miR-302b	CLIP-seq
MIRT766221	hsa-miR-302c	CLIP-seq
MIRT766222	hsa-miR-302d	CLIP-seq
MIRT766223	hsa-miR-302e	CLIP-seq
MIRT766224	hsa-miR-3119	CLIP-seq
MIRT766225	hsa-miR-3134	CLIP-seq
MIRT766226	hsa-miR-3152-3p	CLIP-seq
MIRT766227	hsa-miR-320a	CLIP-seq
MIRT766228	hsa-miR-320b	CLIP-seq
MIRT766229	hsa-miR-320c	CLIP-seq
MIRT766230	hsa-miR-320d	CLIP-seq
MIRT766231	hsa-miR-323-3p	CLIP-seq
MIRT766232	hsa-miR-331-5p	CLIP-seq
MIRT766233	hsa-miR-3591-5p	CLIP-seq
MIRT766234	hsa-miR-3606	CLIP-seq
MIRT766235	hsa-miR-3609	CLIP-seq
MIRT766236	hsa-miR-3611	CLIP-seq
MIRT766237	hsa-miR-3617	CLIP-seq
MIRT766238	hsa-miR-3653	CLIP-seq
MIRT766239	hsa-miR-3658	CLIP-seq
MIRT766240	hsa-miR-3674	CLIP-seq
MIRT766241	hsa-miR-3682-3p	CLIP-seq
MIRT766242	hsa-miR-3688-3p	CLIP-seq
MIRT766243	hsa-miR-372	CLIP-seq
MIRT766244	hsa-miR-373	CLIP-seq
MIRT766245	hsa-miR-374a	CLIP-seq
MIRT766246	hsa-miR-374b	CLIP-seq
MIRT766247	hsa-miR-376a	CLIP-seq
MIRT766248	hsa-miR-376b	CLIP-seq
MIRT766249	hsa-miR-3915	CLIP-seq
MIRT766250	hsa-miR-3924	CLIP-seq
MIRT766251	hsa-miR-3928	CLIP-seq
MIRT766252	hsa-miR-3942-3p	CLIP-seq
MIRT766253	hsa-miR-4261	CLIP-seq
MIRT766254	hsa-miR-4272	CLIP-seq
MIRT766255	hsa-miR-4277	CLIP-seq
MIRT766256	hsa-miR-4282	CLIP-seq
MIRT766257	hsa-miR-4319	CLIP-seq
MIRT766258	hsa-miR-4328	CLIP-seq
MIRT766259	hsa-miR-4429	CLIP-seq
MIRT766260	hsa-miR-4432	CLIP-seq
MIRT766261	hsa-miR-4473	CLIP-seq
MIRT766262	hsa-miR-4477a	CLIP-seq
MIRT766263	hsa-miR-450b-5p	CLIP-seq
MIRT766264	hsa-miR-4517	CLIP-seq
MIRT766265	hsa-miR-4534	CLIP-seq
MIRT766266	hsa-miR-4652-3p	CLIP-seq
MIRT766267	hsa-miR-4671-3p	CLIP-seq
MIRT766268	hsa-miR-4678	CLIP-seq
MIRT766269	hsa-miR-4684-3p	CLIP-seq
MIRT766270	hsa-miR-4684-5p	CLIP-seq
MIRT766271	hsa-miR-4686	CLIP-seq
MIRT766272	hsa-miR-4694-5p	CLIP-seq
MIRT766273	hsa-miR-4717-3p	CLIP-seq
MIRT766274	hsa-miR-4720-3p	CLIP-seq
MIRT766275	hsa-miR-4727-5p	CLIP-seq
MIRT766276	hsa-miR-4732-3p	CLIP-seq
MIRT766277	hsa-miR-4760-3p	CLIP-seq
MIRT766278	hsa-miR-4760-5p	CLIP-seq
MIRT766279	hsa-miR-4768-5p	CLIP-seq
MIRT766280	hsa-miR-4769-3p	CLIP-seq
MIRT766281	hsa-miR-4775	CLIP-seq
MIRT766282	hsa-miR-4777-5p	CLIP-seq
MIRT766283	hsa-miR-4795-3p	CLIP-seq
MIRT766284	hsa-miR-4796-3p	CLIP-seq
MIRT766285	hsa-miR-4804-3p	CLIP-seq
MIRT766286	hsa-miR-499-5p	CLIP-seq
MIRT766287	hsa-miR-5096	CLIP-seq
MIRT766288	hsa-miR-512-3p	CLIP-seq
MIRT766289	hsa-miR-513a-5p	CLIP-seq
MIRT766290	hsa-miR-513c	CLIP-seq
MIRT766291	hsa-miR-514b-5p	CLIP-seq
MIRT766292	hsa-miR-517a	CLIP-seq
MIRT766293	hsa-miR-517b	CLIP-seq
MIRT766294	hsa-miR-517c	CLIP-seq
MIRT766295	hsa-miR-518d-5p	CLIP-seq
MIRT766296	hsa-miR-519b-5p	CLIP-seq
MIRT766297	hsa-miR-519c-5p	CLIP-seq
MIRT766298	hsa-miR-519d	CLIP-seq
MIRT766299	hsa-miR-520a-3p	CLIP-seq
MIRT766300	hsa-miR-520b	CLIP-seq
MIRT766301	hsa-miR-520c-3p	CLIP-seq
MIRT766302	hsa-miR-520c-5p	CLIP-seq
MIRT766303	hsa-miR-520d-3p	CLIP-seq
MIRT766304	hsa-miR-520e	CLIP-seq
MIRT766305	hsa-miR-520f	CLIP-seq
MIRT766306	hsa-miR-526a	CLIP-seq
MIRT766307	hsa-miR-548ah	CLIP-seq
MIRT766308	hsa-miR-548c-3p	CLIP-seq
MIRT766309	hsa-miR-548n	CLIP-seq
MIRT766310	hsa-miR-548t	CLIP-seq
MIRT766311	hsa-miR-556-3p	CLIP-seq
MIRT766312	hsa-miR-579	CLIP-seq
MIRT766313	hsa-miR-590-3p	CLIP-seq
MIRT766314	hsa-miR-590-5p	CLIP-seq
MIRT766315	hsa-miR-641	CLIP-seq
MIRT766316	hsa-miR-656	CLIP-seq
MIRT766317	hsa-miR-664	CLIP-seq
MIRT766318	hsa-miR-670	CLIP-seq
MIRT766319	hsa-miR-885-3p	CLIP-seq
MIRT766320	hsa-miR-889	CLIP-seq
MIRT766321	hsa-miR-921	CLIP-seq
MIRT766322	hsa-miR-93	CLIP-seq
MIRT766204	hsa-miR-125b	CLIP-seq
MIRT1545102	hsa-miR-23a	CLIP-seq
MIRT1545103	hsa-miR-23b	CLIP-seq
MIRT1545104	hsa-miR-23c	CLIP-seq
MIRT766237	hsa-miR-3617	CLIP-seq
MIRT766255	hsa-miR-4277	CLIP-seq
MIRT766257	hsa-miR-4319	CLIP-seq
MIRT766263	hsa-miR-450b-5p	CLIP-seq
MIRT766273	hsa-miR-4717-3p	CLIP-seq
MIRT766276	hsa-miR-4732-3p	CLIP-seq
MIRT1545105	hsa-miR-518a-5p	CLIP-seq
MIRT1545106	hsa-miR-527	CLIP-seq
MIRT766315	hsa-miR-641	CLIP-seq
MIRT766318	hsa-miR-670	CLIP-seq
MIRT1545102	hsa-miR-23a	CLIP-seq
MIRT1545103	hsa-miR-23b	CLIP-seq
MIRT1545104	hsa-miR-23c	CLIP-seq
MIRT766273	hsa-miR-4717-3p	CLIP-seq
MIRT1545102	hsa-miR-23a	CLIP-seq
MIRT1545103	hsa-miR-23b	CLIP-seq
MIRT1545104	hsa-miR-23c	CLIP-seq
MIRT766273	hsa-miR-4717-3p	CLIP-seq
MIRT1545102	hsa-miR-23a	CLIP-seq
MIRT1545103	hsa-miR-23b	CLIP-seq
MIRT1545104	hsa-miR-23c	CLIP-seq
MIRT766273	hsa-miR-4717-3p	CLIP-seq
MIRT766273	hsa-miR-4717-3p	CLIP-seq
MIRT766216	hsa-miR-223	CLIP-seq
MIRT766217	hsa-miR-27a	CLIP-seq
MIRT766218	hsa-miR-27b	CLIP-seq
MIRT1925776	hsa-miR-338-5p	CLIP-seq
MIRT766247	hsa-miR-376a	CLIP-seq
MIRT766248	hsa-miR-376b	CLIP-seq
MIRT1925777	hsa-miR-3920	CLIP-seq
MIRT766252	hsa-miR-3942-3p	CLIP-seq
MIRT766258	hsa-miR-4328	CLIP-seq
MIRT766268	hsa-miR-4678	CLIP-seq
MIRT1925778	hsa-miR-4709-3p	CLIP-seq
MIRT766283	hsa-miR-4795-3p	CLIP-seq
MIRT1925779	hsa-miR-488	CLIP-seq
MIRT766287	hsa-miR-5096	CLIP-seq
MIRT766289	hsa-miR-513a-5p	CLIP-seq
MIRT766317	hsa-miR-664	CLIP-seq
MIRT766204	hsa-miR-125b	CLIP-seq
MIRT766216	hsa-miR-223	CLIP-seq
MIRT766217	hsa-miR-27a	CLIP-seq
MIRT766218	hsa-miR-27b	CLIP-seq
MIRT2167119	hsa-miR-34b	CLIP-seq
MIRT766237	hsa-miR-3617	CLIP-seq
MIRT1925777	hsa-miR-3920	CLIP-seq
MIRT766255	hsa-miR-4277	CLIP-seq
MIRT766257	hsa-miR-4319	CLIP-seq
MIRT766258	hsa-miR-4328	CLIP-seq
MIRT766268	hsa-miR-4678	CLIP-seq
MIRT2167120	hsa-miR-4699-5p	CLIP-seq
MIRT1925778	hsa-miR-4709-3p	CLIP-seq
MIRT766273	hsa-miR-4717-3p	CLIP-seq
MIRT766276	hsa-miR-4732-3p	CLIP-seq
MIRT766278	hsa-miR-4760-5p	CLIP-seq
MIRT766281	hsa-miR-4775	CLIP-seq
MIRT766283	hsa-miR-4795-3p	CLIP-seq
MIRT766287	hsa-miR-5096	CLIP-seq
MIRT766289	hsa-miR-513a-5p	CLIP-seq
MIRT766309	hsa-miR-548n	CLIP-seq
MIRT766310	hsa-miR-548t	CLIP-seq
MIRT2167121	hsa-miR-580	CLIP-seq
MIRT766315	hsa-miR-641	CLIP-seq
MIRT766317	hsa-miR-664	CLIP-seq
MIRT766318	hsa-miR-670	CLIP-seq
MIRT2383884	hsa-miR-1323	CLIP-seq
MIRT2383885	hsa-miR-548o	CLIP-seq
MIRT2425934	hsa-miR-126	CLIP-seq
MIRT766205	hsa-miR-1272	CLIP-seq
MIRT2425935	hsa-miR-1273g	CLIP-seq
MIRT766208	hsa-miR-1322	CLIP-seq
MIRT2383884	hsa-miR-1323	CLIP-seq
MIRT2425936	hsa-miR-141	CLIP-seq
MIRT2425937	hsa-miR-154	CLIP-seq
MIRT2425938	hsa-miR-200a	CLIP-seq
MIRT766214	hsa-miR-21	CLIP-seq
MIRT766216	hsa-miR-223	CLIP-seq
MIRT766217	hsa-miR-27a	CLIP-seq
MIRT766218	hsa-miR-27b	CLIP-seq
MIRT2425939	hsa-miR-3129-3p	CLIP-seq
MIRT766227	hsa-miR-320a	CLIP-seq
MIRT766228	hsa-miR-320b	CLIP-seq
MIRT766229	hsa-miR-320c	CLIP-seq
MIRT766230	hsa-miR-320d	CLIP-seq
MIRT766231	hsa-miR-323-3p	CLIP-seq
MIRT1925776	hsa-miR-338-5p	CLIP-seq
MIRT2425940	hsa-miR-3647-3p	CLIP-seq
MIRT766241	hsa-miR-3682-3p	CLIP-seq
MIRT2425941	hsa-miR-3913-3p	CLIP-seq
MIRT766249	hsa-miR-3915	CLIP-seq
MIRT1925777	hsa-miR-3920	CLIP-seq
MIRT2425942	hsa-miR-3927	CLIP-seq
MIRT766251	hsa-miR-3928	CLIP-seq
MIRT766256	hsa-miR-4282	CLIP-seq
MIRT766258	hsa-miR-4328	CLIP-seq
MIRT766259	hsa-miR-4429	CLIP-seq
MIRT766262	hsa-miR-4477a	CLIP-seq
MIRT2425943	hsa-miR-4650-3p	CLIP-seq
MIRT766268	hsa-miR-4678	CLIP-seq
MIRT1925778	hsa-miR-4709-3p	CLIP-seq
MIRT766273	hsa-miR-4717-3p	CLIP-seq
MIRT766278	hsa-miR-4760-5p	CLIP-seq
MIRT766282	hsa-miR-4777-5p	CLIP-seq
MIRT766283	hsa-miR-4795-3p	CLIP-seq
MIRT1925779	hsa-miR-488	CLIP-seq
MIRT2425944	hsa-miR-489	CLIP-seq
MIRT766287	hsa-miR-5096	CLIP-seq
MIRT766289	hsa-miR-513a-5p	CLIP-seq
MIRT766292	hsa-miR-517a	CLIP-seq
MIRT766293	hsa-miR-517b	CLIP-seq
MIRT766294	hsa-miR-517c	CLIP-seq
MIRT766295	hsa-miR-518d-5p	CLIP-seq
MIRT766296	hsa-miR-519b-5p	CLIP-seq
MIRT766297	hsa-miR-519c-5p	CLIP-seq
MIRT766302	hsa-miR-520c-5p	CLIP-seq
MIRT766306	hsa-miR-526a	CLIP-seq
MIRT2425945	hsa-miR-548ag	CLIP-seq
MIRT2425946	hsa-miR-548ai	CLIP-seq
MIRT2383885	hsa-miR-548o	CLIP-seq
MIRT2425947	hsa-miR-578	CLIP-seq
MIRT2425948	hsa-miR-581	CLIP-seq
MIRT766314	hsa-miR-590-5p	CLIP-seq
MIRT2425949	hsa-miR-935	CLIP-seq
MIRT766205	hsa-miR-1272	CLIP-seq
MIRT766208	hsa-miR-1322	CLIP-seq
MIRT766211	hsa-miR-2052	CLIP-seq
MIRT766215	hsa-miR-2113	CLIP-seq
MIRT766226	hsa-miR-3152-3p	CLIP-seq
MIRT2435199	hsa-miR-323b-3p	CLIP-seq
MIRT766234	hsa-miR-3606	CLIP-seq
MIRT766241	hsa-miR-3682-3p	CLIP-seq
MIRT766258	hsa-miR-4328	CLIP-seq
MIRT766262	hsa-miR-4477a	CLIP-seq
MIRT766266	hsa-miR-4652-3p	CLIP-seq
MIRT766272	hsa-miR-4694-5p	CLIP-seq
MIRT766281	hsa-miR-4775	CLIP-seq
MIRT766282	hsa-miR-4777-5p	CLIP-seq
MIRT766292	hsa-miR-517a	CLIP-seq
MIRT766293	hsa-miR-517b	CLIP-seq
MIRT766294	hsa-miR-517c	CLIP-seq
MIRT766295	hsa-miR-518d-5p	CLIP-seq
MIRT766296	hsa-miR-519b-5p	CLIP-seq
MIRT766297	hsa-miR-519c-5p	CLIP-seq
MIRT766302	hsa-miR-520c-5p	CLIP-seq
MIRT766306	hsa-miR-526a	CLIP-seq
MIRT2167121	hsa-miR-580	CLIP-seq
MIRT2435200	hsa-miR-582-5p	CLIP-seq
MIRT766321	hsa-miR-921	CLIP-seq
MIRT2469717	hsa-miR-1237	CLIP-seq
MIRT2469718	hsa-miR-1248	CLIP-seq
MIRT766205	hsa-miR-1272	CLIP-seq
MIRT766207	hsa-miR-1298	CLIP-seq
MIRT2469719	hsa-miR-130a	CLIP-seq
MIRT2469720	hsa-miR-130b	CLIP-seq
MIRT766208	hsa-miR-1322	CLIP-seq
MIRT766210	hsa-miR-191	CLIP-seq
MIRT766211	hsa-miR-2052	CLIP-seq
MIRT766215	hsa-miR-2113	CLIP-seq
MIRT766216	hsa-miR-223	CLIP-seq
MIRT766217	hsa-miR-27a	CLIP-seq
MIRT766218	hsa-miR-27b	CLIP-seq
MIRT2469721	hsa-miR-301a	CLIP-seq
MIRT2469722	hsa-miR-301b	CLIP-seq
MIRT766225	hsa-miR-3134	CLIP-seq
MIRT2469723	hsa-miR-3136-5p	CLIP-seq
MIRT2469724	hsa-miR-3150a-5p	CLIP-seq
MIRT2469725	hsa-miR-3150b-5p	CLIP-seq
MIRT766226	hsa-miR-3152-3p	CLIP-seq
MIRT766231	hsa-miR-323-3p	CLIP-seq
MIRT2435199	hsa-miR-323b-3p	CLIP-seq
MIRT2167119	hsa-miR-34b	CLIP-seq
MIRT766234	hsa-miR-3606	CLIP-seq
MIRT2469726	hsa-miR-3613-3p	CLIP-seq
MIRT2469727	hsa-miR-3666	CLIP-seq
MIRT766241	hsa-miR-3682-3p	CLIP-seq
MIRT766242	hsa-miR-3688-3p	CLIP-seq
MIRT766247	hsa-miR-376a	CLIP-seq
MIRT766248	hsa-miR-376b	CLIP-seq
MIRT766249	hsa-miR-3915	CLIP-seq
MIRT1925777	hsa-miR-3920	CLIP-seq
MIRT766251	hsa-miR-3928	CLIP-seq
MIRT766253	hsa-miR-4261	CLIP-seq
MIRT766254	hsa-miR-4272	CLIP-seq
MIRT2469728	hsa-miR-4295	CLIP-seq
MIRT766258	hsa-miR-4328	CLIP-seq
MIRT2469729	hsa-miR-4427	CLIP-seq
MIRT766260	hsa-miR-4432	CLIP-seq
MIRT2469730	hsa-miR-4439	CLIP-seq
MIRT766261	hsa-miR-4473	CLIP-seq
MIRT766262	hsa-miR-4477a	CLIP-seq
MIRT2469731	hsa-miR-4513	CLIP-seq
MIRT766265	hsa-miR-4534	CLIP-seq
MIRT2469732	hsa-miR-454	CLIP-seq
MIRT766266	hsa-miR-4652-3p	CLIP-seq
MIRT2469733	hsa-miR-4659a-3p	CLIP-seq
MIRT2469734	hsa-miR-4659b-3p	CLIP-seq
MIRT2469735	hsa-miR-4668-3p	CLIP-seq
MIRT766267	hsa-miR-4671-3p	CLIP-seq
MIRT766268	hsa-miR-4678	CLIP-seq
MIRT766269	hsa-miR-4684-3p	CLIP-seq
MIRT766272	hsa-miR-4694-5p	CLIP-seq
MIRT766273	hsa-miR-4717-3p	CLIP-seq
MIRT766278	hsa-miR-4760-5p	CLIP-seq
MIRT766281	hsa-miR-4775	CLIP-seq
MIRT766282	hsa-miR-4777-5p	CLIP-seq
MIRT766283	hsa-miR-4795-3p	CLIP-seq
MIRT766286	hsa-miR-499-5p	CLIP-seq
MIRT766287	hsa-miR-5096	CLIP-seq
MIRT766289	hsa-miR-513a-5p	CLIP-seq
MIRT766292	hsa-miR-517a	CLIP-seq
MIRT766293	hsa-miR-517b	CLIP-seq
MIRT766294	hsa-miR-517c	CLIP-seq
MIRT766295	hsa-miR-518d-5p	CLIP-seq
MIRT766296	hsa-miR-519b-5p	CLIP-seq
MIRT766297	hsa-miR-519c-5p	CLIP-seq
MIRT766302	hsa-miR-520c-5p	CLIP-seq
MIRT766306	hsa-miR-526a	CLIP-seq
MIRT2469736	hsa-miR-548aa	CLIP-seq
MIRT766308	hsa-miR-548c-3p	CLIP-seq
MIRT2167121	hsa-miR-580	CLIP-seq
MIRT2435200	hsa-miR-582-5p	CLIP-seq
MIRT766316	hsa-miR-656	CLIP-seq
MIRT766319	hsa-miR-885-3p	CLIP-seq
MIRT766321	hsa-miR-921	CLIP-seq
MIRT766205	hsa-miR-1272	CLIP-seq
MIRT766207	hsa-miR-1298	CLIP-seq
MIRT2469719	hsa-miR-130a	CLIP-seq
MIRT2469720	hsa-miR-130b	CLIP-seq
MIRT766208	hsa-miR-1322	CLIP-seq
MIRT766210	hsa-miR-191	CLIP-seq
MIRT766211	hsa-miR-2052	CLIP-seq
MIRT766215	hsa-miR-2113	CLIP-seq
MIRT2674407	hsa-miR-217	CLIP-seq
MIRT766216	hsa-miR-223	CLIP-seq
MIRT766217	hsa-miR-27a	CLIP-seq
MIRT766218	hsa-miR-27b	CLIP-seq
MIRT2469721	hsa-miR-301a	CLIP-seq
MIRT2469722	hsa-miR-301b	CLIP-seq
MIRT766224	hsa-miR-3119	CLIP-seq
MIRT2425939	hsa-miR-3129-3p	CLIP-seq
MIRT766225	hsa-miR-3134	CLIP-seq
MIRT2469723	hsa-miR-3136-5p	CLIP-seq
MIRT2469724	hsa-miR-3150a-5p	CLIP-seq
MIRT2469725	hsa-miR-3150b-5p	CLIP-seq
MIRT766226	hsa-miR-3152-3p	CLIP-seq
MIRT766231	hsa-miR-323-3p	CLIP-seq
MIRT2435199	hsa-miR-323b-3p	CLIP-seq
MIRT2167119	hsa-miR-34b	CLIP-seq
MIRT766234	hsa-miR-3606	CLIP-seq
MIRT2469726	hsa-miR-3613-3p	CLIP-seq
MIRT2469727	hsa-miR-3666	CLIP-seq
MIRT766241	hsa-miR-3682-3p	CLIP-seq
MIRT766242	hsa-miR-3688-3p	CLIP-seq
MIRT766247	hsa-miR-376a	CLIP-seq
MIRT766248	hsa-miR-376b	CLIP-seq
MIRT766249	hsa-miR-3915	CLIP-seq
MIRT1925777	hsa-miR-3920	CLIP-seq
MIRT766251	hsa-miR-3928	CLIP-seq
MIRT2674408	hsa-miR-3938	CLIP-seq
MIRT766253	hsa-miR-4261	CLIP-seq
MIRT766254	hsa-miR-4272	CLIP-seq
MIRT2674409	hsa-miR-4292	CLIP-seq
MIRT2469728	hsa-miR-4295	CLIP-seq
MIRT2674410	hsa-miR-4308	CLIP-seq
MIRT766258	hsa-miR-4328	CLIP-seq
MIRT2674411	hsa-miR-4418	CLIP-seq
MIRT2469729	hsa-miR-4427	CLIP-seq
MIRT766260	hsa-miR-4432	CLIP-seq
MIRT2469730	hsa-miR-4439	CLIP-seq
MIRT766261	hsa-miR-4473	CLIP-seq
MIRT766262	hsa-miR-4477a	CLIP-seq
MIRT2469731	hsa-miR-4513	CLIP-seq
MIRT766265	hsa-miR-4534	CLIP-seq
MIRT2469732	hsa-miR-454	CLIP-seq
MIRT766266	hsa-miR-4652-3p	CLIP-seq
MIRT2469735	hsa-miR-4668-3p	CLIP-seq
MIRT766267	hsa-miR-4671-3p	CLIP-seq
MIRT766268	hsa-miR-4678	CLIP-seq
MIRT766269	hsa-miR-4684-3p	CLIP-seq
MIRT766272	hsa-miR-4694-5p	CLIP-seq
MIRT766273	hsa-miR-4717-3p	CLIP-seq
MIRT766278	hsa-miR-4760-5p	CLIP-seq
MIRT766281	hsa-miR-4775	CLIP-seq
MIRT766282	hsa-miR-4777-5p	CLIP-seq
MIRT766283	hsa-miR-4795-3p	CLIP-seq
MIRT766286	hsa-miR-499-5p	CLIP-seq
MIRT2674412	hsa-miR-509-3-5p	CLIP-seq
MIRT2674413	hsa-miR-509-5p	CLIP-seq
MIRT766287	hsa-miR-5096	CLIP-seq
MIRT766289	hsa-miR-513a-5p	CLIP-seq
MIRT766292	hsa-miR-517a	CLIP-seq
MIRT766293	hsa-miR-517b	CLIP-seq
MIRT766294	hsa-miR-517c	CLIP-seq
MIRT766295	hsa-miR-518d-5p	CLIP-seq
MIRT766296	hsa-miR-519b-5p	CLIP-seq
MIRT766297	hsa-miR-519c-5p	CLIP-seq
MIRT766302	hsa-miR-520c-5p	CLIP-seq
MIRT766306	hsa-miR-526a	CLIP-seq
MIRT766308	hsa-miR-548c-3p	CLIP-seq
MIRT2167121	hsa-miR-580	CLIP-seq
MIRT2435200	hsa-miR-582-5p	CLIP-seq
MIRT766316	hsa-miR-656	CLIP-seq
MIRT766318	hsa-miR-670	CLIP-seq
MIRT766319	hsa-miR-885-3p	CLIP-seq
MIRT766321	hsa-miR-921	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004222	Function	Metalloendopeptidase activity	IBA
GO:0004222	Function	Metalloendopeptidase activity	IDA	9920899, 12054541
GO:0004222	Function	Metalloendopeptidase activity	IEA
GO:0004222	Function	Metalloendopeptidase activity	IMP	22480688
GO:0005080	Function	Protein kinase C binding	ISS	8647900
GO:0005178	Function	Integrin binding	IBA
GO:0005178	Function	Integrin binding	IC	11162558
GO:0005178	Function	Integrin binding	IDA	15361064
GO:0005178	Function	Integrin binding	IPI	17704059
GO:0005515	Function	Protein binding	IPI	10527948, 10531379, 12054541, 15280379, 25825872
GO:0005518	Function	Collagen binding	IMP	15361064
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	12054541
GO:0005615	Component	Extracellular space	ISS	8647900
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	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	9920899, 12054541
GO:0006509	Process	Membrane protein ectodomain proteolysis	IMP	23437250
GO:0006509	Process	Membrane protein ectodomain proteolysis	IMP	22480688
GO:0007155	Process	Cell adhesion	IMP	11162558, 17704059
GO:0007160	Process	Cell-matrix adhesion	IMP	15361064
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IBA
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IMP	11955914
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	ISS	8647900
GO:0007229	Process	Integrin-mediated signaling pathway	IC	11162558
GO:0008233	Function	Peptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	IMP	12535668
GO:0009897	Component	External side of plasma membrane	ISS	8647900
GO:0009986	Component	Cell surface	ISS	8647900
GO:0010042	Process	Response to manganese ion	IMP	11162558
GO:0016020	Component	Membrane	IEA
GO:0016477	Process	Cell migration	ISS
GO:0016485	Process	Protein processing	IDA	12054541
GO:0016787	Function	Hydrolase activity	IEA
GO:0017124	Function	SH3 domain binding	IPI	10531379
GO:0017124	Function	SH3 domain binding	ISS	8647900
GO:0030216	Process	Keratinocyte differentiation	IEP	17704059
GO:0030335	Process	Positive regulation of cell migration	IDA	23437250
GO:0031293	Process	Membrane protein intracellular domain proteolysis	IMP	23437250
GO:0033627	Process	Cell adhesion mediated by integrin	IMP	17704059
GO:0033627	Process	Cell adhesion mediated by integrin	ISS
GO:0033630	Process	Positive regulation of cell adhesion mediated by integrin	IMP	11162558
GO:0033631	Process	Cell-cell adhesion mediated by integrin	IBA
GO:0033631	Process	Cell-cell adhesion mediated by integrin	IEP	17704059
GO:0034241	Process	Positive regulation of macrophage fusion	IMP	11831872
GO:0034612	Process	Response to tumor necrosis factor	IDA	11831872
GO:0042117	Process	Monocyte activation	IMP	11831872
GO:0042542	Process	Response to hydrogen peroxide	IMP	17018608
GO:0042987	Process	Amyloid precursor protein catabolic process	IDA	12054541
GO:0043236	Function	Laminin binding	IMP	15361064
GO:0043410	Process	Positive regulation of MAPK cascade	IDA	17704059
GO:0046872	Function	Metal ion binding	IEA
GO:0050714	Process	Positive regulation of protein secretion	IDA	17704059
GO:0051044	Process	Positive regulation of membrane protein ectodomain proteolysis	ISS	8647900
GO:0051384	Process	Response to glucocorticoid	ISS	8647900
GO:0051549	Process	Positive regulation of keratinocyte migration	IMP	17704059
GO:0051592	Process	Response to calcium ion	IMP	11162558
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0071222	Process	Cellular response to lipopolysaccharide	IMP	22480688
GO:1902945	Function	Metalloendopeptidase activity involved in amyloid precursor protein catabolic process	IDA	12054541

Other IDs

• MIM: 602713
• HGNC: 216
• e!Ensembl: ENSG00000168615

Protein

• UniProt ID: Q13443
• Protein name: Disintegrin and metalloproteinase domain-containing protein 9 (ADAM 9) (EC 3.4.24.-) (Cellular disintegrin-related protein) (Meltrin-gamma) (Metalloprotease/disintegrin/cysteine-rich protein 9) (Myeloma cell metalloproteinase)
• Protein function: Metalloprotease that cleaves and releases a number of molecules with important roles in tumorigenesis and angiogenesis, such as TEK, KDR, EPHB4, CD40, VCAM1 and CDH5. May mediate cell-cell, cell-matrix interactions and regulate the motility of c
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01562	Pep_M12B_propep	35 → 163	Reprolysin family propeptide	Family
  PF01421	Reprolysin	212 → 406	Reprolysin (M12B) family zinc metalloprotease	Domain
  PF00200	Disintegrin	423 → 496	Disintegrin	Domain
  PF08516	ADAM_CR	501 → 615	ADAM cysteine-rich	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. Expressed in chondrocytes. Isoform 2 is highly expressed in liver and heart. {ECO:0000269|PubMed:12054541, ECO:0000269|PubMed:7584026, ECO:0000269|PubMed:8647900, ECO:0000269|PubMed:9016778}.
• Sequence:

  MGSGARFPSGTLRVRWLLLLGLVGPVLGAARPGFQQTSHLSSYEIITPWRLTRERREAPR
  PYSKQVSYVIQAEGKEHIIHLERNKDLLPEDFVVYTYNKEGTLITDHPNIQNHCHYRGYV
  EGVHNSSIALSDCFGLRGLLHLENASYGIEPLQNSSHFEHIIYRMDDVYKEPLKCGVSNK
  DIEKETAKDEEEEPPSMTQLLRRRRAVLPQTRYVELFIVVDKERYDMMGRNQTAVREEMI
  LLANYLDSMYIMLNIRIVLVGLEIWTNGNLINIVGGAGDVLGNFVQWREKFLITRRRHDS
  AQLVLKKGFGGTAGMAFVGTVCSRSHAGGINVFGQITVETFASIVAHELGHNLGMNHDDG
  RDCSCGAKSCIMNSGASGSRNFSSCSAEDFEKLTLNKGGNCLLNIPKPDEAYSAPSCGNK
  LVDAGEECDCGTPKECELDPCCEGSTCKLKSFAECAYGDCCKDCRFLPGGTLCRGKTSEC
  DVPEYCNGSSQFCQPDVFIQNGYPCQNNKAYCYNGMCQYYDAQCQVIFGSKAKAAPKDCF
  IEVNSKGDRFGNCGFSGNEYKKCATGNALCGKLQCENVQEIPVFGIVPAIIQTPSRGTKC
  WGVDFQLGSDVPDPGMVNEGTKCGAGKICRNFQCVDASVLNYDCDVQKKCHGHGVCNSNK
  NCHCENGWAPPNCETKGYGGSVDSGPTYNEMNTALRDGLLVFFFLIVPLIVCAIFIFIKR
  DQLWRSYFRKKRSQTYESDGKNQANPSRQPGSVPRHVSPVTPPREVPIYANRFAVPTYAA
  KQPQQFPSRPPPPQPKVSSQGNLIPARPAPAPPLYSSLT

• Sequence length: 819

Pathways

KEGG:

Efferocytosis

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
Cone-rod dystrophy	Likely pathogenic; Pathogenic	rs1838681432, rs2491909343, rs137853041, rs786205086, rs1588391640	RCV005419432 RCV002469935 RCV002267719 RCV002267720 RCV002267746	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cone-rod dystrophy 9	Likely pathogenic; Pathogenic	rs2129433190, rs2129438824, rs1838681432, rs786205151, rs786205085, rs137853040, rs137853041, rs786205086, rs2492066969, rs1836637522	RCV001376292 RCV001542474 RCV002287550 RCV000170309 RCV000007279 RCV000007280 RCV000007281 RCV000007282 RCV004006259 RCV001169962	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ADAM9-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ADAM9-RELATED RETINOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE ROD DYSTROPHY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE-ROD DYSTROPHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-Rod Dystrophy, Recessive	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal dystrophy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis pigmentosa	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	LHGDN	14997207		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	24705471, 28675123, 30038506		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	BEFREE	20422344		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	22508715	Associate	★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	12942322, 30556643		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	12858346		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	17088949	Stimulate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	27571068	Stimulate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	12858346		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	27026568		★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	BEFREE	12717386		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	12767059, 20736367, 26261534, 29163713		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	15565459	Stimulate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	17157792, 20473280, 20736367, 23499592, 26261534	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms Male	Male breast neoplasms	Pubtator	22527098	Associate	★☆☆☆☆ Found in Text Mining only
Cancer of Digestive System	Gastric Cancer	BEFREE	30655735		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	12717386, 27554339, 29247567		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	21530512, 22302133, 32683508, 36660950, 37081465	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	39346916	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	22291012, 24705471, 25060522, 28537886, 28648644, 28675123, 29118335		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	33155193	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	14997207, 36434634	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	18582378, 31438640	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	31030477, 36553675	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	11955914, 25091951		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	14551530	Associate	★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	31030477		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	31030477		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	29864380		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	16336960, 27878272		★☆☆☆☆ Found in Text Mining only
Cone rod dystrophy	Cone-rod dystrophy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-Rod Dystrophies	Cone-rod dystrophy	BEFREE	19409519, 20691256, 25091951		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-Rod Dystrophies	Cone-rod dystrophy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-Rod Dystrophies	Cone-rod dystrophy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-Rod Dystrophy 2	Cone-rod dystrophy	BEFREE	19409519, 20691256, 25091951		★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophy 2	Cone-rod dystrophy	ORPHANET_DG	19409519		★☆☆☆☆ Found in Text Mining only
CONE-ROD DYSTROPHY 3 (disorder)	Cone-rod dystrophy	BEFREE	20806078		★☆☆☆☆ Found in Text Mining only
CONE-ROD DYSTROPHY 9	Cone-rod dystrophy	BEFREE	20806078		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CONE-ROD DYSTROPHY 9	Cone-rod dystrophy	GENOMICS_ENGLAND_DG	25091951		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CONE-ROD DYSTROPHY 9	Cone-rod dystrophy	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CONE-ROD DYSTROPHY 9	Cone-rod dystrophy	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	29285199		★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	15936750		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	27692848		★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	15856464		★☆☆☆☆ Found in Text Mining only
Dermatitis Herpetiformis	Dermatitis herpetiformis	Pubtator	22991566	Associate	★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG	25091951		★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	BEFREE	31409686		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	34187214	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	40187212	Associate	★☆☆☆☆ Found in Text Mining only
Esophagitis	Esophagitis	BEFREE	27026568		★☆☆☆☆ Found in Text Mining only
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	27026568		★☆☆☆☆ Found in Text Mining only
Fibroadenoma	Fibroadenoma	BEFREE	12767059		★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	BEFREE	29434796		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	27571068, 28849046		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	27571068	Stimulate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	27571068, 28849046		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	25527158, 27571068, 33260155	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	27498787, 27571068, 29115634, 29550974		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	18582378	Stimulate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	39898241	Associate	★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	29285199		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	21530512, 26179263, 28639884, 29119055, 29432845		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	15205330		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	24705471	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	25060522, 26553452		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	12767059, 20736367, 26261534, 29163713		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	18582378		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	29550974		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	22291012, 24705471, 25060522, 28537886, 28648644, 28675123, 29118335		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	29285199		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	15983444, 17465204, 22064652, 31810373		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	17018608, 17342749, 18061337, 21849809, 23342005, 29285199, 29805636		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	17018608		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	15586220, 25344581, 28260063		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11162388, 17465204, 19273593, 20422344, 21064090, 25344581, 25778452, 28264989, 28675123, 29115634, 29142101, 29285199, 30556643		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	31030477		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	16336960, 27878272		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	12767059		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	23499592, 27554339		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	15856464, 19003995, 21135106, 23437250, 28553955		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	15856464		★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	23342005		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	16373656, 39261477	Associate	★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	BEFREE	31409686		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12717386, 12942322, 15856464, 18582378, 20422344, 21135106, 23106877, 23342005, 23437250, 25213697, 25778452, 26179263, 27498787, 27571068, 28260063, 28639884, 28849046, 29118335, 29550974, 29879625, 30556643, 30655735		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	15205330, 25778452, 27770372, 31153639		★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	25213697, 28713950		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	25213697, 26319109	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	29247567, 31793719	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	15983444, 17465204, 22064652, 31810373		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	30556643		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	17465204, 22064652, 33648511, 37170188	Associate	★☆☆☆☆ Found in Text Mining only
Posterior subcapsular cataract	Capsular cataract	BEFREE	25091951		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	17018608, 17342749, 18061337, 21849809, 23342005, 29285199, 29805636		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	17018608, 17342749, 18061337		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	17018608		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	20672324, 23286446, 24505114, 39628685	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	33363366	Stimulate	★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	29864380		★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	18582378		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	18582378, 27692848		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	19273593, 20691256		★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	BEFREE	19409519, 20691256, 25091951		★☆☆☆☆ Found in Text Mining only
Rufous oculocutaneous albinism	Rufous oculocutaneous albinism	Pubtator	40429751	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	23857158		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	Pubtator	23857158	Inhibit	★☆☆☆☆ Found in Text Mining only
Sarcoidosis Pulmonary	Sarcoidosis	Pubtator	23857158	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Alveolar Soft Part	Sarcoma	Pubtator	19146682	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	23405089, 31841187		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	25512445		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	23405089, 31841187	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	15586220, 25344581, 28260063		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	30569104	Stimulate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	24823697, 35740916, 38176295	Associate	★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	24823697		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	25177692, 31030477	Associate	★☆☆☆☆ Found in Text Mining only