MATR3 (matrin 3)

Gene

• Entrez ID: 9782
• Gene name: Matrin 3
• Gene symbol: MATR3
• Synonyms (NCBI Gene): ALS21, MPD2, VCPDM
• Chromosome: 5
• Chromosome location: 5q31.2
• Summary: This gene encodes a nuclear matrix protein, which is proposed to stabilize certain messenger RNA species. Mutations of this gene are associated with distal myopathy 2, which often includes vocal cord and pharyngeal weakness. Alternatively spliced transcri

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121434591	C>G	Pathogenic	Coding sequence variant, intron variant, missense variant
rs587777300	T>G	Pathogenic	Coding sequence variant, missense variant, intron variant
rs587777301	A>G	Pathogenic	Coding sequence variant, missense variant
rs587777302	C>T	Pathogenic	Coding sequence variant, missense variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT002350	kshv-miR-K12-11-3p	Luciferase reporter assay	17881434
MIRT001804	hsa-miR-155-5p	Luciferase reporter assay	17881434
MIRT005035	hsa-miR-200b-3p	Luciferase reporter assay, Microarray, qRT-PCR	19849700
MIRT001804	hsa-miR-155-5p	Reporter assay;Other	17881434
MIRT023619	hsa-miR-1-3p	Proteomics	18668040
MIRT025656	hsa-miR-7-5p	Microarray	19073608
MIRT029123	hsa-miR-26b-5p	Microarray	19088304
MIRT030450	hsa-miR-24-3p	Microarray	19748357
MIRT051595	hsa-let-7e-5p	CLASH	23622248
MIRT050688	hsa-miR-18a-5p	CLASH	23622248
MIRT047914	hsa-miR-30c-5p	CLASH	23622248
MIRT046131	hsa-miR-30b-5p	CLASH	23622248
MIRT046009	hsa-miR-125b-5p	CLASH	23622248
MIRT045433	hsa-miR-149-5p	CLASH	23622248
MIRT045312	hsa-miR-185-5p	CLASH	23622248
MIRT044932	hsa-miR-186-5p	CLASH	23622248
MIRT040232	hsa-miR-615-3p	CLASH	23622248
MIRT037686	hsa-miR-744-5p	CLASH	23622248
MIRT574600	hsa-miR-543	PAR-CLIP	20371350
MIRT574599	hsa-miR-5094	PAR-CLIP	20371350
MIRT214769	hsa-miR-16-1-3p	PAR-CLIP	20371350
MIRT214772	hsa-miR-3143	PAR-CLIP	20371350
MIRT214770	hsa-miR-302c-5p	PAR-CLIP	20371350
MIRT571907	hsa-miR-338-5p	PAR-CLIP	20371350
MIRT357645	hsa-miR-6875-3p	PAR-CLIP	20371350
MIRT357641	hsa-miR-4659a-3p	PAR-CLIP	20371350
MIRT357642	hsa-miR-4659b-3p	PAR-CLIP	20371350
MIRT571907	hsa-miR-338-5p	PAR-CLIP	20371350
MIRT357645	hsa-miR-6875-3p	PAR-CLIP	20371350
MIRT357641	hsa-miR-4659a-3p	PAR-CLIP	20371350
MIRT357642	hsa-miR-4659b-3p	PAR-CLIP	20371350
MIRT473568	hsa-miR-206	PAR-CLIP	23592263
MIRT023619	hsa-miR-1-3p	PAR-CLIP	23592263
MIRT473567	hsa-miR-613	PAR-CLIP	23592263
MIRT030450	hsa-miR-24-3p	PAR-CLIP	23592263
MIRT473566	hsa-miR-33a-3p	PAR-CLIP	23592263
MIRT473565	hsa-miR-4802-3p	PAR-CLIP	23592263
MIRT473564	hsa-miR-1245b-3p	PAR-CLIP	23592263
MIRT473563	hsa-miR-10b-3p	PAR-CLIP	23592263
MIRT473562	hsa-miR-4330	PAR-CLIP	23592263
MIRT473561	hsa-miR-4772-3p	PAR-CLIP	23592263
MIRT473559	hsa-miR-2276-3p	PAR-CLIP	23592263
MIRT473560	hsa-miR-4708-3p	PAR-CLIP	23592263
MIRT473558	hsa-miR-5100	PAR-CLIP	23592263
MIRT473557	hsa-miR-3942-3p	PAR-CLIP	23592263
MIRT473563	hsa-miR-10b-3p	PAR-CLIP	26701625
MIRT473563	hsa-miR-10b-3p	PAR-CLIP	26701625
MIRT473563	hsa-miR-10b-3p	PAR-CLIP	26701625
MIRT473563	hsa-miR-10b-3p	PAR-CLIP	26701625
MIRT023619	hsa-miR-1-3p	PAR-CLIP	26701625
MIRT023619	hsa-miR-1-3p	PAR-CLIP	26701625
MIRT023619	hsa-miR-1-3p	PAR-CLIP	26701625
MIRT023619	hsa-miR-1-3p	PAR-CLIP	26701625
MIRT473568	hsa-miR-206	PAR-CLIP	26701625
MIRT473568	hsa-miR-206	PAR-CLIP	26701625
MIRT473568	hsa-miR-206	PAR-CLIP	26701625
MIRT473568	hsa-miR-206	PAR-CLIP	26701625
MIRT030450	hsa-miR-24-3p	PAR-CLIP	26701625
MIRT030450	hsa-miR-24-3p	PAR-CLIP	26701625
MIRT030450	hsa-miR-24-3p	PAR-CLIP	26701625
MIRT030450	hsa-miR-24-3p	PAR-CLIP	26701625
MIRT473562	hsa-miR-4330	PAR-CLIP	26701625
MIRT473562	hsa-miR-4330	PAR-CLIP	26701625
MIRT473562	hsa-miR-4330	PAR-CLIP	26701625
MIRT473562	hsa-miR-4330	PAR-CLIP	26701625
MIRT473560	hsa-miR-4708-3p	PAR-CLIP	26701625
MIRT473560	hsa-miR-4708-3p	PAR-CLIP	26701625
MIRT473560	hsa-miR-4708-3p	PAR-CLIP	26701625
MIRT473560	hsa-miR-4708-3p	PAR-CLIP	26701625
MIRT473565	hsa-miR-4802-3p	PAR-CLIP	26701625
MIRT473565	hsa-miR-4802-3p	PAR-CLIP	26701625
MIRT473565	hsa-miR-4802-3p	PAR-CLIP	26701625
MIRT473565	hsa-miR-4802-3p	PAR-CLIP	26701625
MIRT473567	hsa-miR-613	PAR-CLIP	26701625
MIRT473567	hsa-miR-613	PAR-CLIP	26701625
MIRT473567	hsa-miR-613	PAR-CLIP	26701625
MIRT473567	hsa-miR-613	PAR-CLIP	26701625
MIRT574600	hsa-miR-543	PAR-CLIP	20371350
MIRT574599	hsa-miR-5094	PAR-CLIP	20371350
MIRT214769	hsa-miR-16-1-3p	PAR-CLIP	20371350
MIRT214772	hsa-miR-3143	PAR-CLIP	20371350
MIRT214770	hsa-miR-302c-5p	PAR-CLIP	20371350
MIRT571907	hsa-miR-338-5p	PAR-CLIP	20371350
MIRT357645	hsa-miR-6875-3p	PAR-CLIP	20371350
MIRT357641	hsa-miR-4659a-3p	PAR-CLIP	20371350
MIRT357642	hsa-miR-4659b-3p	PAR-CLIP	20371350
MIRT571907	hsa-miR-338-5p	PAR-CLIP	20371350
MIRT357645	hsa-miR-6875-3p	PAR-CLIP	20371350
MIRT357641	hsa-miR-4659a-3p	PAR-CLIP	20371350
MIRT357642	hsa-miR-4659b-3p	PAR-CLIP	20371350
MIRT473568	hsa-miR-206	PAR-CLIP	23592263
MIRT023619	hsa-miR-1-3p	PAR-CLIP	23592263
MIRT473567	hsa-miR-613	PAR-CLIP	23592263
MIRT030450	hsa-miR-24-3p	PAR-CLIP	23592263
MIRT473566	hsa-miR-33a-3p	PAR-CLIP	23592263
MIRT473565	hsa-miR-4802-3p	PAR-CLIP	23592263
MIRT473564	hsa-miR-1245b-3p	PAR-CLIP	23592263
MIRT473563	hsa-miR-10b-3p	PAR-CLIP	23592263
MIRT473562	hsa-miR-4330	PAR-CLIP	23592263
MIRT473561	hsa-miR-4772-3p	PAR-CLIP	23592263
MIRT473559	hsa-miR-2276-3p	PAR-CLIP	23592263
MIRT473560	hsa-miR-4708-3p	PAR-CLIP	23592263
MIRT473558	hsa-miR-5100	PAR-CLIP	23592263
MIRT473557	hsa-miR-3942-3p	PAR-CLIP	23592263
MIRT1133741	hsa-miR-1297	CLIP-seq
MIRT1133742	hsa-miR-26a	CLIP-seq
MIRT1133743	hsa-miR-26b	CLIP-seq
MIRT1133744	hsa-miR-3171	CLIP-seq
MIRT1133745	hsa-miR-410	CLIP-seq
MIRT1133746	hsa-miR-425	CLIP-seq
MIRT1133747	hsa-miR-4465	CLIP-seq
MIRT1133748	hsa-miR-4504	CLIP-seq
MIRT1133749	hsa-miR-4705	CLIP-seq
MIRT1133750	hsa-miR-4756-3p	CLIP-seq
MIRT1133751	hsa-let-7a	CLIP-seq
MIRT1133752	hsa-let-7b	CLIP-seq
MIRT1133753	hsa-let-7c	CLIP-seq
MIRT1133754	hsa-let-7d	CLIP-seq
MIRT1133755	hsa-let-7e	CLIP-seq
MIRT1133756	hsa-let-7f	CLIP-seq
MIRT1133757	hsa-let-7g	CLIP-seq
MIRT1133758	hsa-let-7i	CLIP-seq
MIRT1133759	hsa-miR-105	CLIP-seq
MIRT1133760	hsa-miR-1225-3p	CLIP-seq
MIRT1133761	hsa-miR-1226	CLIP-seq
MIRT1133762	hsa-miR-1227	CLIP-seq
MIRT1133763	hsa-miR-1233	CLIP-seq
MIRT1133764	hsa-miR-127-5p	CLIP-seq
MIRT1133765	hsa-miR-146a	CLIP-seq
MIRT1133766	hsa-miR-146b-5p	CLIP-seq
MIRT1133767	hsa-miR-194	CLIP-seq
MIRT1133768	hsa-miR-2276	CLIP-seq
MIRT1133769	hsa-miR-24	CLIP-seq
MIRT1133770	hsa-miR-2467-3p	CLIP-seq
MIRT1133771	hsa-miR-3065-5p	CLIP-seq
MIRT1133772	hsa-miR-3144-3p	CLIP-seq
MIRT1133744	hsa-miR-3171	CLIP-seq
MIRT1133773	hsa-miR-329	CLIP-seq
MIRT1133774	hsa-miR-3613-3p	CLIP-seq
MIRT1133775	hsa-miR-362-3p	CLIP-seq
MIRT1133776	hsa-miR-3674	CLIP-seq
MIRT1133777	hsa-miR-3678-3p	CLIP-seq
MIRT1133778	hsa-miR-380	CLIP-seq
MIRT1133779	hsa-miR-3919	CLIP-seq
MIRT1133780	hsa-miR-3924	CLIP-seq
MIRT1133781	hsa-miR-3925-3p	CLIP-seq
MIRT1133782	hsa-miR-3925-5p	CLIP-seq
MIRT1133783	hsa-miR-3929	CLIP-seq
MIRT1133784	hsa-miR-3935	CLIP-seq
MIRT1133785	hsa-miR-3941	CLIP-seq
MIRT1133786	hsa-miR-409-3p	CLIP-seq
MIRT1133746	hsa-miR-425	CLIP-seq
MIRT1133787	hsa-miR-4252	CLIP-seq
MIRT1133788	hsa-miR-4266	CLIP-seq
MIRT1133789	hsa-miR-4419b	CLIP-seq
MIRT1133790	hsa-miR-4458	CLIP-seq
MIRT1133791	hsa-miR-4478	CLIP-seq
MIRT1133792	hsa-miR-4495	CLIP-seq
MIRT1133793	hsa-miR-4500	CLIP-seq
MIRT1133794	hsa-miR-4639-5p	CLIP-seq
MIRT1133795	hsa-miR-4695-5p	CLIP-seq
MIRT1133796	hsa-miR-4719	CLIP-seq
MIRT1133750	hsa-miR-4756-3p	CLIP-seq
MIRT1133797	hsa-miR-4757-5p	CLIP-seq
MIRT1133798	hsa-miR-4779	CLIP-seq
MIRT1133799	hsa-miR-4793-3p	CLIP-seq
MIRT1133800	hsa-miR-488	CLIP-seq
MIRT1133801	hsa-miR-508-5p	CLIP-seq
MIRT1133802	hsa-miR-548aa	CLIP-seq
MIRT1133803	hsa-miR-548ac	CLIP-seq
MIRT1133804	hsa-miR-548ae	CLIP-seq
MIRT1133805	hsa-miR-548aj	CLIP-seq
MIRT1133806	hsa-miR-548am	CLIP-seq
MIRT1133807	hsa-miR-548c-3p	CLIP-seq
MIRT1133808	hsa-miR-548d-3p	CLIP-seq
MIRT1133809	hsa-miR-548x	CLIP-seq
MIRT1133810	hsa-miR-548z	CLIP-seq
MIRT1133811	hsa-miR-579	CLIP-seq
MIRT1133812	hsa-miR-603	CLIP-seq
MIRT1133813	hsa-miR-605	CLIP-seq
MIRT1133814	hsa-miR-634	CLIP-seq
MIRT1133815	hsa-miR-873	CLIP-seq
MIRT1133816	hsa-miR-98	CLIP-seq
MIRT1133751	hsa-let-7a	CLIP-seq
MIRT1133752	hsa-let-7b	CLIP-seq
MIRT1133753	hsa-let-7c	CLIP-seq
MIRT1133754	hsa-let-7d	CLIP-seq
MIRT1133755	hsa-let-7e	CLIP-seq
MIRT1133756	hsa-let-7f	CLIP-seq
MIRT1133757	hsa-let-7g	CLIP-seq
MIRT1133758	hsa-let-7i	CLIP-seq
MIRT1133817	hsa-miR-1	CLIP-seq
MIRT1133759	hsa-miR-105	CLIP-seq
MIRT1133818	hsa-miR-1266	CLIP-seq
MIRT1133819	hsa-miR-1273f	CLIP-seq
MIRT1133820	hsa-miR-129-5p	CLIP-seq
MIRT1133821	hsa-miR-141	CLIP-seq
MIRT1133822	hsa-miR-200a	CLIP-seq
MIRT1133823	hsa-miR-202	CLIP-seq
MIRT1133824	hsa-miR-2116	CLIP-seq
MIRT1133768	hsa-miR-2276	CLIP-seq
MIRT1133769	hsa-miR-24	CLIP-seq
MIRT1133825	hsa-miR-296-5p	CLIP-seq
MIRT1133826	hsa-miR-298	CLIP-seq
MIRT1133772	hsa-miR-3144-3p	CLIP-seq
MIRT1133827	hsa-miR-3145-5p	CLIP-seq
MIRT1133828	hsa-miR-3148	CLIP-seq
MIRT1133829	hsa-miR-3159	CLIP-seq
MIRT1133773	hsa-miR-329	CLIP-seq
MIRT1133830	hsa-miR-33a	CLIP-seq
MIRT1133831	hsa-miR-33b	CLIP-seq
MIRT1133774	hsa-miR-3613-3p	CLIP-seq
MIRT1133832	hsa-miR-3614-5p	CLIP-seq
MIRT1133833	hsa-miR-3618	CLIP-seq
MIRT1133775	hsa-miR-362-3p	CLIP-seq
MIRT1133834	hsa-miR-3646	CLIP-seq
MIRT1133835	hsa-miR-3647-3p	CLIP-seq
MIRT1133836	hsa-miR-3664-3p	CLIP-seq
MIRT1133837	hsa-miR-3665	CLIP-seq
MIRT1133838	hsa-miR-3673	CLIP-seq
MIRT1133839	hsa-miR-375	CLIP-seq
MIRT1133840	hsa-miR-3926	CLIP-seq
MIRT1133785	hsa-miR-3941	CLIP-seq
MIRT1133841	hsa-miR-3944-5p	CLIP-seq
MIRT1133786	hsa-miR-409-3p	CLIP-seq
MIRT1133745	hsa-miR-410	CLIP-seq
MIRT1133788	hsa-miR-4266	CLIP-seq
MIRT1133842	hsa-miR-4270	CLIP-seq
MIRT1133843	hsa-miR-4273	CLIP-seq
MIRT1133844	hsa-miR-4420	CLIP-seq
MIRT1133845	hsa-miR-4433	CLIP-seq
MIRT1133846	hsa-miR-4441	CLIP-seq
MIRT1133790	hsa-miR-4458	CLIP-seq
MIRT1133847	hsa-miR-4459	CLIP-seq
MIRT1133848	hsa-miR-4468	CLIP-seq
MIRT1133792	hsa-miR-4495	CLIP-seq
MIRT1133849	hsa-miR-4499	CLIP-seq
MIRT1133793	hsa-miR-4500	CLIP-seq
MIRT1133850	hsa-miR-450b-5p	CLIP-seq
MIRT1133851	hsa-miR-4517	CLIP-seq
MIRT1133852	hsa-miR-4518	CLIP-seq
MIRT1133853	hsa-miR-452	CLIP-seq
MIRT1133854	hsa-miR-4643	CLIP-seq
MIRT1133855	hsa-miR-4668-5p	CLIP-seq
MIRT1133856	hsa-miR-4676-3p	CLIP-seq
MIRT1133857	hsa-miR-4677-5p	CLIP-seq
MIRT1133858	hsa-miR-4690-5p	CLIP-seq
MIRT1133795	hsa-miR-4695-5p	CLIP-seq
MIRT1133859	hsa-miR-4709-3p	CLIP-seq
MIRT1133860	hsa-miR-4717-3p	CLIP-seq
MIRT1133750	hsa-miR-4756-3p	CLIP-seq
MIRT1133861	hsa-miR-4768-3p	CLIP-seq
MIRT1133798	hsa-miR-4779	CLIP-seq
MIRT1133862	hsa-miR-4795-3p	CLIP-seq
MIRT1133863	hsa-miR-507	CLIP-seq
MIRT1133864	hsa-miR-510	CLIP-seq
MIRT1133865	hsa-miR-512-5p	CLIP-seq
MIRT1133866	hsa-miR-515-5p	CLIP-seq
MIRT1133867	hsa-miR-517b	CLIP-seq
MIRT1133868	hsa-miR-548a-5p	CLIP-seq
MIRT1133869	hsa-miR-548ab	CLIP-seq
MIRT1133803	hsa-miR-548ac	CLIP-seq
MIRT1133804	hsa-miR-548ae	CLIP-seq
MIRT1133805	hsa-miR-548aj	CLIP-seq
MIRT1133870	hsa-miR-548ak	CLIP-seq
MIRT1133806	hsa-miR-548am	CLIP-seq
MIRT1133871	hsa-miR-548b-5p	CLIP-seq
MIRT1133807	hsa-miR-548c-3p	CLIP-seq
MIRT1133872	hsa-miR-548c-5p	CLIP-seq
MIRT1133808	hsa-miR-548d-3p	CLIP-seq
MIRT1133873	hsa-miR-548d-5p	CLIP-seq
MIRT1133874	hsa-miR-548h	CLIP-seq
MIRT1133875	hsa-miR-548i	CLIP-seq
MIRT1133876	hsa-miR-548j	CLIP-seq
MIRT1133877	hsa-miR-548s	CLIP-seq
MIRT1133878	hsa-miR-548w	CLIP-seq
MIRT1133809	hsa-miR-548x	CLIP-seq
MIRT1133879	hsa-miR-548y	CLIP-seq
MIRT1133810	hsa-miR-548z	CLIP-seq
MIRT1133880	hsa-miR-557	CLIP-seq
MIRT1133881	hsa-miR-559	CLIP-seq
MIRT1133882	hsa-miR-601	CLIP-seq
MIRT1133812	hsa-miR-603	CLIP-seq
MIRT1133883	hsa-miR-635	CLIP-seq
MIRT1133884	hsa-miR-657	CLIP-seq
MIRT1133815	hsa-miR-873	CLIP-seq
MIRT1133816	hsa-miR-98	CLIP-seq
MIRT1133820	hsa-miR-129-5p	CLIP-seq
MIRT2038093	hsa-miR-203	CLIP-seq
MIRT1133774	hsa-miR-3613-3p	CLIP-seq
MIRT1133839	hsa-miR-375	CLIP-seq
MIRT2038094	hsa-miR-4652-3p	CLIP-seq
MIRT1133796	hsa-miR-4719	CLIP-seq
MIRT1133866	hsa-miR-515-5p	CLIP-seq
MIRT2038095	hsa-miR-548a-3p	CLIP-seq
MIRT1133802	hsa-miR-548aa	CLIP-seq
MIRT1133803	hsa-miR-548ac	CLIP-seq
MIRT1133804	hsa-miR-548ae	CLIP-seq
MIRT1133805	hsa-miR-548aj	CLIP-seq
MIRT1133806	hsa-miR-548am	CLIP-seq
MIRT1133808	hsa-miR-548d-3p	CLIP-seq
MIRT2038096	hsa-miR-548e	CLIP-seq
MIRT2038097	hsa-miR-548f	CLIP-seq
MIRT1133809	hsa-miR-548x	CLIP-seq
MIRT1133810	hsa-miR-548z	CLIP-seq
MIRT1133811	hsa-miR-579	CLIP-seq
MIRT1133796	hsa-miR-4719	CLIP-seq
MIRT1133848	hsa-miR-4468	CLIP-seq
MIRT1133762	hsa-miR-1227	CLIP-seq
MIRT2268014	hsa-miR-1262	CLIP-seq
MIRT2268015	hsa-miR-1283	CLIP-seq
MIRT1133741	hsa-miR-1297	CLIP-seq
MIRT1133765	hsa-miR-146a	CLIP-seq
MIRT1133766	hsa-miR-146b-5p	CLIP-seq
MIRT2268016	hsa-miR-21	CLIP-seq
MIRT2268017	hsa-miR-216b	CLIP-seq
MIRT1133742	hsa-miR-26a	CLIP-seq
MIRT1133743	hsa-miR-26b	CLIP-seq
MIRT2268018	hsa-miR-3120-5p	CLIP-seq
MIRT2268019	hsa-miR-3156-5p	CLIP-seq
MIRT2268020	hsa-miR-3182	CLIP-seq
MIRT2268021	hsa-miR-3675-3p	CLIP-seq
MIRT2268022	hsa-miR-3682-5p	CLIP-seq
MIRT1133781	hsa-miR-3925-3p	CLIP-seq
MIRT2268023	hsa-miR-3973	CLIP-seq
MIRT1133787	hsa-miR-4252	CLIP-seq
MIRT1133747	hsa-miR-4465	CLIP-seq
MIRT2268024	hsa-miR-4476	CLIP-seq
MIRT1133748	hsa-miR-4504	CLIP-seq
MIRT2268025	hsa-miR-4684-5p	CLIP-seq
MIRT2268026	hsa-miR-4695-3p	CLIP-seq
MIRT2268027	hsa-miR-4701-3p	CLIP-seq
MIRT1133749	hsa-miR-4705	CLIP-seq
MIRT2268028	hsa-miR-4762-3p	CLIP-seq
MIRT1133799	hsa-miR-4793-3p	CLIP-seq
MIRT2268029	hsa-miR-4797-5p	CLIP-seq
MIRT1133801	hsa-miR-508-5p	CLIP-seq
MIRT1133864	hsa-miR-510	CLIP-seq
MIRT2268030	hsa-miR-520d-5p	CLIP-seq
MIRT2268031	hsa-miR-524-5p	CLIP-seq
MIRT2268032	hsa-miR-542-3p	CLIP-seq
MIRT2268033	hsa-miR-548k	CLIP-seq
MIRT2268034	hsa-miR-590-5p	CLIP-seq
MIRT2268035	hsa-miR-622	CLIP-seq
MIRT2268036	hsa-miR-759	CLIP-seq
MIRT2038093	hsa-miR-203	CLIP-seq
MIRT1133796	hsa-miR-4719	CLIP-seq
MIRT2390660	hsa-miR-562	CLIP-seq
MIRT2431046	hsa-miR-522	CLIP-seq
MIRT2453772	hsa-miR-1290	CLIP-seq
MIRT1133820	hsa-miR-129-5p	CLIP-seq
MIRT2453773	hsa-miR-2113	CLIP-seq
MIRT2453774	hsa-miR-23a	CLIP-seq
MIRT2453775	hsa-miR-23b	CLIP-seq
MIRT2453776	hsa-miR-23c	CLIP-seq
MIRT2453777	hsa-miR-556-3p	CLIP-seq
MIRT1133817	hsa-miR-1	CLIP-seq
MIRT2567701	hsa-miR-1267	CLIP-seq
MIRT2268015	hsa-miR-1283	CLIP-seq
MIRT2453772	hsa-miR-1290	CLIP-seq
MIRT1133820	hsa-miR-129-5p	CLIP-seq
MIRT2567702	hsa-miR-140-5p	CLIP-seq
MIRT2038093	hsa-miR-203	CLIP-seq
MIRT2268016	hsa-miR-21	CLIP-seq
MIRT2453773	hsa-miR-2113	CLIP-seq
MIRT2567703	hsa-miR-216a	CLIP-seq
MIRT2268017	hsa-miR-216b	CLIP-seq
MIRT2567704	hsa-miR-224	CLIP-seq
MIRT1133768	hsa-miR-2276	CLIP-seq
MIRT2453774	hsa-miR-23a	CLIP-seq
MIRT2453775	hsa-miR-23b	CLIP-seq
MIRT2453776	hsa-miR-23c	CLIP-seq
MIRT1133769	hsa-miR-24	CLIP-seq
MIRT2567705	hsa-miR-28-3p	CLIP-seq
MIRT2567706	hsa-miR-296-3p	CLIP-seq
MIRT2268018	hsa-miR-3120-5p	CLIP-seq
MIRT2567707	hsa-miR-3130-3p	CLIP-seq
MIRT2567708	hsa-miR-3133	CLIP-seq
MIRT2567709	hsa-miR-3135	CLIP-seq
MIRT1133827	hsa-miR-3145-5p	CLIP-seq
MIRT1133829	hsa-miR-3159	CLIP-seq
MIRT2268020	hsa-miR-3182	CLIP-seq
MIRT1133830	hsa-miR-33a	CLIP-seq
MIRT1133831	hsa-miR-33b	CLIP-seq
MIRT2567710	hsa-miR-3545-5p	CLIP-seq
MIRT1133774	hsa-miR-3613-3p	CLIP-seq
MIRT1133834	hsa-miR-3646	CLIP-seq
MIRT1133835	hsa-miR-3647-3p	CLIP-seq
MIRT2567711	hsa-miR-3662	CLIP-seq
MIRT1133837	hsa-miR-3665	CLIP-seq
MIRT1133838	hsa-miR-3673	CLIP-seq
MIRT2268021	hsa-miR-3675-3p	CLIP-seq
MIRT2268022	hsa-miR-3682-5p	CLIP-seq
MIRT2567712	hsa-miR-382	CLIP-seq
MIRT1133840	hsa-miR-3926	CLIP-seq
MIRT1133841	hsa-miR-3944-5p	CLIP-seq
MIRT2268023	hsa-miR-3973	CLIP-seq
MIRT1133842	hsa-miR-4270	CLIP-seq
MIRT1133844	hsa-miR-4420	CLIP-seq
MIRT2567713	hsa-miR-4423-5p	CLIP-seq
MIRT1133846	hsa-miR-4441	CLIP-seq
MIRT2567714	hsa-miR-4460	CLIP-seq
MIRT2268024	hsa-miR-4476	CLIP-seq
MIRT1133850	hsa-miR-450b-5p	CLIP-seq
MIRT1133853	hsa-miR-452	CLIP-seq
MIRT2567715	hsa-miR-4659a-5p	CLIP-seq
MIRT2567716	hsa-miR-4659b-5p	CLIP-seq
MIRT1133856	hsa-miR-4676-3p	CLIP-seq
MIRT2567717	hsa-miR-4681	CLIP-seq
MIRT2268025	hsa-miR-4684-5p	CLIP-seq
MIRT1133858	hsa-miR-4690-5p	CLIP-seq
MIRT1133860	hsa-miR-4717-3p	CLIP-seq
MIRT1133796	hsa-miR-4719	CLIP-seq
MIRT2567718	hsa-miR-4725-5p	CLIP-seq
MIRT2567719	hsa-miR-4727-3p	CLIP-seq
MIRT2567720	hsa-miR-4738-3p	CLIP-seq
MIRT2268028	hsa-miR-4762-3p	CLIP-seq
MIRT2567721	hsa-miR-4776-3p	CLIP-seq
MIRT2567722	hsa-miR-4786-5p	CLIP-seq
MIRT1133862	hsa-miR-4795-3p	CLIP-seq
MIRT2567723	hsa-miR-4803	CLIP-seq
MIRT2567724	hsa-miR-502-5p	CLIP-seq
MIRT2567725	hsa-miR-504	CLIP-seq
MIRT1133863	hsa-miR-507	CLIP-seq
MIRT2567726	hsa-miR-511	CLIP-seq
MIRT2567727	hsa-miR-513a-3p	CLIP-seq
MIRT1133866	hsa-miR-515-5p	CLIP-seq
MIRT1133867	hsa-miR-517b	CLIP-seq
MIRT2268030	hsa-miR-520d-5p	CLIP-seq
MIRT2431046	hsa-miR-522	CLIP-seq
MIRT2268031	hsa-miR-524-5p	CLIP-seq
MIRT2038095	hsa-miR-548a-3p	CLIP-seq
MIRT1133868	hsa-miR-548a-5p	CLIP-seq
MIRT1133869	hsa-miR-548ab	CLIP-seq
MIRT1133803	hsa-miR-548ac	CLIP-seq
MIRT1133804	hsa-miR-548ae	CLIP-seq
MIRT1133805	hsa-miR-548aj	CLIP-seq
MIRT1133870	hsa-miR-548ak	CLIP-seq
MIRT1133806	hsa-miR-548am	CLIP-seq
MIRT2567728	hsa-miR-548b-3p	CLIP-seq
MIRT1133871	hsa-miR-548b-5p	CLIP-seq
MIRT1133807	hsa-miR-548c-3p	CLIP-seq
MIRT1133872	hsa-miR-548c-5p	CLIP-seq
MIRT1133808	hsa-miR-548d-3p	CLIP-seq
MIRT1133873	hsa-miR-548d-5p	CLIP-seq
MIRT2038096	hsa-miR-548e	CLIP-seq
MIRT2038097	hsa-miR-548f	CLIP-seq
MIRT2567729	hsa-miR-548g	CLIP-seq
MIRT1133874	hsa-miR-548h	CLIP-seq
MIRT1133875	hsa-miR-548i	CLIP-seq
MIRT1133876	hsa-miR-548j	CLIP-seq
MIRT2268033	hsa-miR-548k	CLIP-seq
MIRT1133877	hsa-miR-548s	CLIP-seq
MIRT1133878	hsa-miR-548w	CLIP-seq
MIRT1133809	hsa-miR-548x	CLIP-seq
MIRT1133879	hsa-miR-548y	CLIP-seq
MIRT1133810	hsa-miR-548z	CLIP-seq
MIRT1133880	hsa-miR-557	CLIP-seq
MIRT1133881	hsa-miR-559	CLIP-seq
MIRT2390660	hsa-miR-562	CLIP-seq
MIRT2567730	hsa-miR-568	CLIP-seq
MIRT1133811	hsa-miR-579	CLIP-seq
MIRT2268034	hsa-miR-590-5p	CLIP-seq
MIRT2567731	hsa-miR-592	CLIP-seq
MIRT2567732	hsa-miR-597	CLIP-seq
MIRT2567733	hsa-miR-606	CLIP-seq
MIRT1133884	hsa-miR-657	CLIP-seq
MIRT2567734	hsa-miR-664	CLIP-seq
MIRT2567735	hsa-miR-769-5p	CLIP-seq
MIRT1133815	hsa-miR-873	CLIP-seq
MIRT2567736	hsa-miR-890	CLIP-seq
MIRT1133817	hsa-miR-1	CLIP-seq
MIRT1133818	hsa-miR-1266	CLIP-seq
MIRT2567701	hsa-miR-1267	CLIP-seq
MIRT2268015	hsa-miR-1283	CLIP-seq
MIRT2684667	hsa-miR-1285	CLIP-seq
MIRT2453772	hsa-miR-1290	CLIP-seq
MIRT1133820	hsa-miR-129-5p	CLIP-seq
MIRT2684668	hsa-miR-139-5p	CLIP-seq
MIRT2567702	hsa-miR-140-5p	CLIP-seq
MIRT2038093	hsa-miR-203	CLIP-seq
MIRT2268016	hsa-miR-21	CLIP-seq
MIRT2453773	hsa-miR-2113	CLIP-seq
MIRT2567703	hsa-miR-216a	CLIP-seq
MIRT2268017	hsa-miR-216b	CLIP-seq
MIRT2567704	hsa-miR-224	CLIP-seq
MIRT1133768	hsa-miR-2276	CLIP-seq
MIRT2453774	hsa-miR-23a	CLIP-seq
MIRT2453775	hsa-miR-23b	CLIP-seq
MIRT2453776	hsa-miR-23c	CLIP-seq
MIRT1133769	hsa-miR-24	CLIP-seq
MIRT2567705	hsa-miR-28-3p	CLIP-seq
MIRT2268018	hsa-miR-3120-5p	CLIP-seq
MIRT2684669	hsa-miR-3122	CLIP-seq
MIRT2567707	hsa-miR-3130-3p	CLIP-seq
MIRT2567708	hsa-miR-3133	CLIP-seq
MIRT1133827	hsa-miR-3145-5p	CLIP-seq
MIRT1133828	hsa-miR-3148	CLIP-seq
MIRT1133829	hsa-miR-3159	CLIP-seq
MIRT2268020	hsa-miR-3182	CLIP-seq
MIRT2684670	hsa-miR-3187-5p	CLIP-seq
MIRT2567710	hsa-miR-3545-5p	CLIP-seq
MIRT1133774	hsa-miR-3613-3p	CLIP-seq
MIRT1133834	hsa-miR-3646	CLIP-seq
MIRT2567711	hsa-miR-3662	CLIP-seq
MIRT1133838	hsa-miR-3673	CLIP-seq
MIRT2268021	hsa-miR-3675-3p	CLIP-seq
MIRT2268022	hsa-miR-3682-5p	CLIP-seq
MIRT2684671	hsa-miR-3689a-3p	CLIP-seq
MIRT2684672	hsa-miR-3689c	CLIP-seq
MIRT2567712	hsa-miR-382	CLIP-seq
MIRT2684673	hsa-miR-3913-5p	CLIP-seq
MIRT1133840	hsa-miR-3926	CLIP-seq
MIRT2268023	hsa-miR-3973	CLIP-seq
MIRT1133842	hsa-miR-4270	CLIP-seq
MIRT2567713	hsa-miR-4423-5p	CLIP-seq
MIRT1133846	hsa-miR-4441	CLIP-seq
MIRT2567714	hsa-miR-4460	CLIP-seq
MIRT2684674	hsa-miR-4470	CLIP-seq
MIRT2268024	hsa-miR-4476	CLIP-seq
MIRT1133852	hsa-miR-4518	CLIP-seq
MIRT2567715	hsa-miR-4659a-5p	CLIP-seq
MIRT2567716	hsa-miR-4659b-5p	CLIP-seq
MIRT1133855	hsa-miR-4668-5p	CLIP-seq
MIRT2268025	hsa-miR-4684-5p	CLIP-seq
MIRT1133858	hsa-miR-4690-5p	CLIP-seq
MIRT2684675	hsa-miR-4714-3p	CLIP-seq
MIRT2567719	hsa-miR-4727-3p	CLIP-seq
MIRT2567720	hsa-miR-4738-3p	CLIP-seq
MIRT2268028	hsa-miR-4762-3p	CLIP-seq
MIRT2567721	hsa-miR-4776-3p	CLIP-seq
MIRT1133862	hsa-miR-4795-3p	CLIP-seq
MIRT2567723	hsa-miR-4803	CLIP-seq
MIRT2684676	hsa-miR-490-3p	CLIP-seq
MIRT1133864	hsa-miR-510	CLIP-seq
MIRT2567726	hsa-miR-511	CLIP-seq
MIRT2567727	hsa-miR-513a-3p	CLIP-seq
MIRT1133866	hsa-miR-515-5p	CLIP-seq
MIRT1133867	hsa-miR-517b	CLIP-seq
MIRT2268030	hsa-miR-520d-5p	CLIP-seq
MIRT2431046	hsa-miR-522	CLIP-seq
MIRT2268031	hsa-miR-524-5p	CLIP-seq
MIRT2038095	hsa-miR-548a-3p	CLIP-seq
MIRT1133803	hsa-miR-548ac	CLIP-seq
MIRT1133804	hsa-miR-548ae	CLIP-seq
MIRT1133805	hsa-miR-548aj	CLIP-seq
MIRT1133806	hsa-miR-548am	CLIP-seq
MIRT2567728	hsa-miR-548b-3p	CLIP-seq
MIRT1133808	hsa-miR-548d-3p	CLIP-seq
MIRT2038096	hsa-miR-548e	CLIP-seq
MIRT2038097	hsa-miR-548f	CLIP-seq
MIRT2268033	hsa-miR-548k	CLIP-seq
MIRT1133877	hsa-miR-548s	CLIP-seq
MIRT1133809	hsa-miR-548x	CLIP-seq
MIRT1133810	hsa-miR-548z	CLIP-seq
MIRT2390660	hsa-miR-562	CLIP-seq
MIRT1133811	hsa-miR-579	CLIP-seq
MIRT2268034	hsa-miR-590-5p	CLIP-seq
MIRT2567731	hsa-miR-592	CLIP-seq
MIRT2567732	hsa-miR-597	CLIP-seq
MIRT2567733	hsa-miR-606	CLIP-seq
MIRT2684677	hsa-miR-612	CLIP-seq
MIRT2567734	hsa-miR-664	CLIP-seq
MIRT1133815	hsa-miR-873	CLIP-seq
MIRT2567736	hsa-miR-890	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001825	Process	Blastocyst formation	IEA
GO:0002218	Process	Activation of innate immune response	IDA	28712728
GO:0002376	Process	Immune system process	IEA
GO:0003170	Process	Heart valve development	IEA
GO:0003170	Process	Heart valve development	ISS
GO:0003281	Process	Ventricular septum development	IEA
GO:0003281	Process	Ventricular septum development	ISS
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003723	Function	RNA binding	IBA
GO:0003723	Function	RNA binding	IEA
GO:0005198	Function	Structural molecule activity	TAS	2033075
GO:0005515	Function	Protein binding	IPI	16189514, 17043677, 17932509, 19486527, 20195357, 25416956, 25959826, 26496610, 26979993, 27731383, 29961565, 30021884, 31413325, 32296183, 32814053, 37548402
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005637	Component	Nuclear inner membrane	TAS	2033075
GO:0008270	Function	Zinc ion binding	IEA
GO:0010608	Process	Post-transcriptional regulation of gene expression	IDA	21771347
GO:0016020	Component	Membrane	HDA	19946888
GO:0016363	Component	Nuclear matrix	IEA
GO:0035198	Function	MiRNA binding	IDA	28431233
GO:0042802	Function	Identical protein binding	IPI	25416956, 32296183
GO:0045087	Process	Innate immune response	IEA
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 164015
• HGNC: 6912
• e!Ensembl: ENSG00000015479

Protein

• UniProt ID: P43243
• Protein name: Matrin-3
• Protein function: May play a role in transcription or may interact with other nuclear matrix proteins to form the internal fibrogranular network. In association with the SFPQ-NONO heteromer may play a role in nuclear retention of defective RNAs. Plays a role in t
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13893	RRM_5	377 → 487		Domain

• Sequence:

  MSKSFQQSSLSRDSQGHGRDLSAAGIGLLAAATQSLSMPASLGRMNQGTARLASLMNLGM
  SSSLNQQGAHSALSSASTSSHNLQSIFNIGSRGPLPLSSQHRGDADQASNILASFGLSAR
  DLDELSRYPEDKITPENLPQILLQLKRRRTEEGPTLSYGRDGRSATREPPYRVPRDDWEE
  KRHFRRDSFDDRGPSLNPVLDYDHGSRSQESGYYDRMDYEDDRLRDGERCRDDSFFGETS
  HNYHKFDSEYERMGRGPGPLQERSLFEKKRGAPPSSNIEDFHGLLPKGYPHLCSICDLPV
  HSNKEWSQHINGASHSRRCQLLLEIYPEWNPDNDTGHTMGDPFMLQQSTNPAPGILGPPP
  PSFHLGGPAVGPRGNLGAGNGNLQGPRHMQKGRVETSRVVHIMDFQRGKNLRYQLLQLVE
  PFGVISNHLILNKINEAFIEMATTEDAQAAVDYYTTTPALVFGKPVRVHLSQKYKRIKKP
  EGKPDQKFDQKQELGRVIHLSNLPHSGYSDSAVLKLAEPYGKIKNYILMRMKSQAFIEME
  TREDAMAMVDHCLKKALWFQGRCVKVDLSEKYKKLVLRIPNRGIDLLKKDKSRKRSYSPD
  GKESPSDKKSKTDGSQKTESSTEGKEQEEKSGEDGEKDTKDDQTEQEPNMLLESEDELLV
  DEEEAAALLESGSSVGDETDLANLGDVASDGKKEPSDKAVKKDGSASAAAKKKLKKVDKI
  EELDQENEAALENGIKNEENTEPGAESSENADDPNKDTSENADGQSDENKDDYTIPDEYR
  IGPYQPNVPVGIDYVIPKTGFYCKLCSLFYTNEEVAKNTHCSSLPHYQKLKKFLNKLAEE
  RRQKKET

• Sequence length: 847

Pathways

KEGG:

Amyotrophic lateral sclerosis

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
Amyotrophic lateral sclerosis type 21	Pathogenic	rs121434591	RCV000015039	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic lateral sclerosis	Uncertain significance	ClinVar Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
AMYOTROPHIC LATERAL SCLEROSIS 21	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISTAL MUSCULAR DYSTROPHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal myopathy	Likely benign; Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal myopathy with vocal cord weakness	Uncertain significance	ClinVar ClinGen, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC CARDIOMYOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MATR3-related disorder	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign; not provided	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodegeneration	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VOCAL CORD AND PHARYNGEAL DISTAL MYOPATHY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	19849700		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	GENOMICS_ENGLAND_DG	19344878		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	24686783, 25158920, 25523636, 25771394, 25801576, 26493020, 26528920, 26708275, 26728149, 27863507, 28029397, 28622300, 28977530, 29128563, 29154141, 29511296, 30015619, 30366341, 30563574, 31056746		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	ORPHANET_DG	24686783		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	24686783, 29511296, 30366341, 32731393, 37011198, 37381832, 37703175, 37722062	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic lateral sclerosis	Amyotrophic Lateral Sclerosis	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
AMYOTROPHIC LATERAL SCLEROSIS 1	Lateral Sclerosis	BEFREE	26493020, 28622300		★☆☆☆☆ Found in Text Mining only
Amyotrophic lateral sclerosis 1	Amyotrophic lateral sclerosis	Pubtator	29128563	Associate	★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 21	Amyotrophic Lateral Sclerosis	GENOMICS_ENGLAND_DG	19344878, 24686783, 28029397		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 21	Amyotrophic Lateral Sclerosis	UNIPROT_DG	19344878, 24686783, 25771394, 26199109		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 21	Amyotrophic Lateral Sclerosis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis, Familial	Amyotrophic lateral sclerosis	BEFREE	24686783, 25523636, 25771394, 29128563		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic	Lateral Sclerosis	BEFREE	26493020, 26708275, 29128563		★☆☆☆☆ Found in Text Mining only
Aneurysm	Aneurysm	Pubtator	29929532	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aortic coarctation	Aortic Coarctation	BEFREE	25574029		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	36952494	Associate	★☆☆☆☆ Found in Text Mining only
Bicuspid aortic valve	Bicuspid aortic valve	BEFREE	25574029		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	32977861	Associate	★☆☆☆☆ Found in Text Mining only
Bulbar palsy	Bulbar palsy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	30637779	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	38252499	Stimulate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	28580901	Associate	★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	BEFREE	19344878, 28029397		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	37098514	Associate	★☆☆☆☆ Found in Text Mining only
Distal Muscular Dystrophies	Distal Muscular Dystrophy	BEFREE	19344878, 23842731, 25154462, 25523636, 25677933, 26528920, 28029397, 28977530, 29511296, 30563574		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal Muscular Dystrophies	Distal Muscular Dystrophy	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal Myopathies	Distal myopathy	Pubtator	19344878, 29511296, 37703175, 9837826	Associate	★☆☆☆☆ Found in Text Mining only
Distal upper limb amyotrophy	Distal upper limb amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Double Outlet Right Ventricle	Double Outlet Right Ventricle	BEFREE	25574029		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	LHGDN	12469345		★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	24686783		★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	24686783, 37011198	Associate	★☆☆☆☆ Found in Text Mining only
Frontotemporal Lobar Degeneration	Frontotemporal dementia	BEFREE	25158920		★☆☆☆☆ Found in Text Mining only
Laryngospasm	Laryngospasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30637779		★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	29109432, 29128563, 30398641, 38320753	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of adrenal cortex	Adrenocortical carcinoma	BEFREE	19849700		★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	HPO_DG			★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	21683594		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Facioscapulohumeral	Facioscapulohumeral muscular dystrophy	Pubtator	37703175	Associate	★☆☆☆☆ Found in Text Mining only
Myofibrillar Myopathy	Myofibrillar myopathy	GENOMICS_ENGLAND_DG	19344878		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	23842731, 25677933, 25948554, 26528920, 29511296, 30563574		★☆☆☆☆ Found in Text Mining only
MYOPATHY, DISTAL 2	MYOPATHY	BEFREE	16674563, 19344878, 26493020, 31056746, 9837826		★☆☆☆☆ Found in Text Mining only
MYOPATHY, DISTAL 2	MYOPATHY	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	30516047		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	38320753	Associate	★☆☆☆☆ Found in Text Mining only
Partial Paralysis (Paresis) Vocal Cords	Partial Paralysis Vocal Cords	HPO_DG			★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	BEFREE	25574029		★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	BEFREE	24686783		★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	30320347	Associate	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	36952494	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	32977861	Inhibit	★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	BEFREE	25574029		★☆☆☆☆ Found in Text Mining only
Vocal cord and pharyngeal distal myopathy	Vocal Cord And Pharyngeal Distal Myopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vocal Cord Paralysis	Vocal Cord Paralysis	BEFREE	25154462		★☆☆☆☆ Found in Text Mining only