TOR1AIP1 (torsin 1A interacting protein 1)

Gene

• Entrez ID: 26092
• Gene name: Torsin 1A interacting protein 1
• Gene symbol: TOR1AIP1
• Synonyms (NCBI Gene): LAP1, LAP1B, LAP1C, LGMD2Y
• Chromosome: 1
• Chromosome location: 1q25.2
• Summary: This gene encodes a type 2 integral membrane protein that binds A- and B-type lamins. The encoded protein localizes to the inner nuclear membrane and may be involved in maintaining the attachment of the nuclear membrane to the nuclear lamina during cell d

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs11581962	C>A,T	Likely-pathogenic	Synonymous variant, stop gained, coding sequence variant
rs201518227	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs750028739	GTAAGAATAG>-	Likely-pathogenic	Coding sequence variant, splice donor variant, intron variant
rs778326858	G>T	Pathogenic	Coding sequence variant, stop gained
rs879255612	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1180978840	G>A,C	Likely-pathogenic	Splice donor variant
rs1366427526	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1571735403	AAGTAAG>-	Likely-pathogenic	Splice donor variant, coding sequence variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT024930	hsa-miR-215-5p	Microarray	19074876
MIRT026145	hsa-miR-192-5p	Microarray	19074876
MIRT027250	hsa-miR-101-3p	Sequencing	20371350
MIRT698108	hsa-miR-224-3p	HITS-CLIP	23313552
MIRT698107	hsa-miR-522-3p	HITS-CLIP	23313552
MIRT698106	hsa-miR-495-3p	HITS-CLIP	23313552
MIRT698105	hsa-miR-5688	HITS-CLIP	23313552
MIRT698104	hsa-miR-7-1-3p	HITS-CLIP	23313552
MIRT698103	hsa-miR-7-2-3p	HITS-CLIP	23313552
MIRT698102	hsa-miR-3651	HITS-CLIP	23313552
MIRT698101	hsa-miR-6826-5p	HITS-CLIP	23313552
MIRT698100	hsa-miR-1207-3p	HITS-CLIP	23313552
MIRT698099	hsa-miR-4436a	HITS-CLIP	23313552
MIRT698098	hsa-miR-5000-3p	HITS-CLIP	23313552
MIRT698097	hsa-miR-6840-3p	HITS-CLIP	23313552
MIRT642190	hsa-miR-4780	HITS-CLIP	23824327
MIRT642189	hsa-miR-6780b-3p	HITS-CLIP	23824327
MIRT642188	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT642187	hsa-miR-3145-3p	HITS-CLIP	23824327
MIRT642186	hsa-miR-7977	HITS-CLIP	23824327
MIRT642185	hsa-miR-623	HITS-CLIP	23824327
MIRT642184	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT642183	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT642182	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT642181	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT642180	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT541519	hsa-miR-508-5p	PAR-CLIP	21572407
MIRT541518	hsa-miR-5586-3p	PAR-CLIP	21572407
MIRT541516	hsa-miR-6849-3p	PAR-CLIP	21572407
MIRT541517	hsa-miR-939-3p	PAR-CLIP	21572407
MIRT541515	hsa-miR-766-3p	PAR-CLIP	21572407
MIRT541514	hsa-miR-1285-3p	PAR-CLIP	21572407
MIRT541512	hsa-miR-3187-5p	PAR-CLIP	21572407
MIRT541513	hsa-miR-5189-5p	PAR-CLIP	21572407
MIRT541511	hsa-miR-612	PAR-CLIP	21572407
MIRT541510	hsa-miR-6860	PAR-CLIP	21572407
MIRT541509	hsa-miR-5186	PAR-CLIP	21572407
MIRT541508	hsa-miR-219a-5p	PAR-CLIP	21572407
MIRT541507	hsa-miR-4782-3p	PAR-CLIP	21572407
MIRT541506	hsa-miR-6766-3p	PAR-CLIP	21572407
MIRT541505	hsa-miR-661	PAR-CLIP	21572407
MIRT541504	hsa-miR-31-5p	PAR-CLIP	21572407
MIRT541503	hsa-miR-6512-3p	PAR-CLIP	21572407
MIRT541502	hsa-miR-6720-5p	PAR-CLIP	21572407
MIRT541501	hsa-miR-6818-3p	PAR-CLIP	21572407
MIRT533570	hsa-miR-3908	PAR-CLIP	22012620
MIRT533569	hsa-miR-4747-5p	PAR-CLIP	22012620
MIRT533568	hsa-miR-5196-5p	PAR-CLIP	22012620
MIRT533567	hsa-miR-130a-5p	PAR-CLIP	22012620
MIRT533566	hsa-miR-23a-3p	PAR-CLIP	22012620
MIRT533565	hsa-miR-23b-3p	PAR-CLIP	22012620
MIRT533564	hsa-miR-23c	PAR-CLIP	22012620
MIRT533563	hsa-miR-3674	PAR-CLIP	22012620
MIRT698108	hsa-miR-224-3p	HITS-CLIP	23313552
MIRT698107	hsa-miR-522-3p	HITS-CLIP	23313552
MIRT698106	hsa-miR-495-3p	HITS-CLIP	23313552
MIRT698105	hsa-miR-5688	HITS-CLIP	23313552
MIRT698104	hsa-miR-7-1-3p	HITS-CLIP	23313552
MIRT698103	hsa-miR-7-2-3p	HITS-CLIP	23313552
MIRT698102	hsa-miR-3651	HITS-CLIP	23313552
MIRT698101	hsa-miR-6826-5p	HITS-CLIP	23313552
MIRT698100	hsa-miR-1207-3p	HITS-CLIP	23313552
MIRT698099	hsa-miR-4436a	HITS-CLIP	23313552
MIRT698098	hsa-miR-5000-3p	HITS-CLIP	23313552
MIRT698097	hsa-miR-6840-3p	HITS-CLIP	23313552
MIRT642190	hsa-miR-4780	HITS-CLIP	23824327
MIRT642189	hsa-miR-6780b-3p	HITS-CLIP	23824327
MIRT642188	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT642187	hsa-miR-3145-3p	HITS-CLIP	23824327
MIRT642186	hsa-miR-7977	HITS-CLIP	23824327
MIRT642185	hsa-miR-623	HITS-CLIP	23824327
MIRT642184	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT642183	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT642182	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT642181	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT642180	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT541519	hsa-miR-508-5p	PAR-CLIP	21572407
MIRT541518	hsa-miR-5586-3p	PAR-CLIP	21572407
MIRT541516	hsa-miR-6849-3p	PAR-CLIP	21572407
MIRT541517	hsa-miR-939-3p	PAR-CLIP	21572407
MIRT541515	hsa-miR-766-3p	PAR-CLIP	21572407
MIRT541514	hsa-miR-1285-3p	PAR-CLIP	21572407
MIRT541512	hsa-miR-3187-5p	PAR-CLIP	21572407
MIRT541513	hsa-miR-5189-5p	PAR-CLIP	21572407
MIRT541511	hsa-miR-612	PAR-CLIP	21572407
MIRT541510	hsa-miR-6860	PAR-CLIP	21572407
MIRT541509	hsa-miR-5186	PAR-CLIP	21572407
MIRT541508	hsa-miR-219a-5p	PAR-CLIP	21572407
MIRT541507	hsa-miR-4782-3p	PAR-CLIP	21572407
MIRT541506	hsa-miR-6766-3p	PAR-CLIP	21572407
MIRT541505	hsa-miR-661	PAR-CLIP	21572407
MIRT541504	hsa-miR-31-5p	PAR-CLIP	21572407
MIRT541503	hsa-miR-6512-3p	PAR-CLIP	21572407
MIRT541502	hsa-miR-6720-5p	PAR-CLIP	21572407
MIRT541501	hsa-miR-6818-3p	PAR-CLIP	21572407
MIRT533570	hsa-miR-3908	PAR-CLIP	22012620
MIRT533569	hsa-miR-4747-5p	PAR-CLIP	22012620
MIRT533568	hsa-miR-5196-5p	PAR-CLIP	22012620
MIRT533567	hsa-miR-130a-5p	PAR-CLIP	22012620
MIRT533566	hsa-miR-23a-3p	PAR-CLIP	22012620
MIRT533565	hsa-miR-23b-3p	PAR-CLIP	22012620
MIRT533564	hsa-miR-23c	PAR-CLIP	22012620
MIRT533563	hsa-miR-3674	PAR-CLIP	22012620
MIRT1447493	hsa-miR-1200	CLIP-seq
MIRT1447494	hsa-miR-1304	CLIP-seq
MIRT1447495	hsa-miR-1307	CLIP-seq
MIRT1447496	hsa-miR-1827	CLIP-seq
MIRT1447497	hsa-miR-197	CLIP-seq
MIRT1447498	hsa-miR-217	CLIP-seq
MIRT1447499	hsa-miR-3074-5p	CLIP-seq
MIRT1447500	hsa-miR-3140-5p	CLIP-seq
MIRT1447501	hsa-miR-3149	CLIP-seq
MIRT1447502	hsa-miR-3163	CLIP-seq
MIRT1447503	hsa-miR-3165	CLIP-seq
MIRT1447504	hsa-miR-338-5p	CLIP-seq
MIRT1447505	hsa-miR-345	CLIP-seq
MIRT1447506	hsa-miR-3617	CLIP-seq
MIRT1447507	hsa-miR-3662	CLIP-seq
MIRT1447508	hsa-miR-411	CLIP-seq
MIRT1447509	hsa-miR-4269	CLIP-seq
MIRT1447510	hsa-miR-4418	CLIP-seq
MIRT1447511	hsa-miR-4514	CLIP-seq
MIRT1447512	hsa-miR-4522	CLIP-seq
MIRT1447513	hsa-miR-4638-5p	CLIP-seq
MIRT1447514	hsa-miR-4692	CLIP-seq
MIRT1447515	hsa-miR-4699-3p	CLIP-seq
MIRT1447516	hsa-miR-4716-5p	CLIP-seq
MIRT1447517	hsa-miR-4735-5p	CLIP-seq
MIRT1447518	hsa-miR-4742-5p	CLIP-seq
MIRT1447519	hsa-miR-4761-5p	CLIP-seq
MIRT1447520	hsa-miR-4766-5p	CLIP-seq
MIRT1447521	hsa-miR-4772-3p	CLIP-seq
MIRT1447522	hsa-miR-4775	CLIP-seq
MIRT1447523	hsa-miR-4781-3p	CLIP-seq
MIRT1447524	hsa-miR-4803	CLIP-seq
MIRT1447525	hsa-miR-483-5p	CLIP-seq
MIRT1447526	hsa-miR-501-3p	CLIP-seq
MIRT1447527	hsa-miR-502-3p	CLIP-seq
MIRT1447528	hsa-miR-509-3-5p	CLIP-seq
MIRT1447529	hsa-miR-509-5p	CLIP-seq
MIRT1447530	hsa-miR-5096	CLIP-seq
MIRT1447531	hsa-miR-548ac	CLIP-seq
MIRT1447532	hsa-miR-548ae	CLIP-seq
MIRT1447533	hsa-miR-548aj	CLIP-seq
MIRT1447534	hsa-miR-548am	CLIP-seq
MIRT1447535	hsa-miR-548d-3p	CLIP-seq
MIRT1447536	hsa-miR-548x	CLIP-seq
MIRT1447537	hsa-miR-548z	CLIP-seq
MIRT1447538	hsa-miR-590-3p	CLIP-seq
MIRT1447539	hsa-miR-624	CLIP-seq
MIRT1447540	hsa-miR-641	CLIP-seq
MIRT1447541	hsa-miR-767-5p	CLIP-seq
MIRT1447542	hsa-miR-944	CLIP-seq
MIRT1447493	hsa-miR-1200	CLIP-seq
MIRT2133781	hsa-miR-125a-3p	CLIP-seq
MIRT2133782	hsa-miR-150	CLIP-seq
MIRT1447497	hsa-miR-197	CLIP-seq
MIRT2133783	hsa-miR-2116	CLIP-seq
MIRT1447499	hsa-miR-3074-5p	CLIP-seq
MIRT2133784	hsa-miR-3124-3p	CLIP-seq
MIRT1447500	hsa-miR-3140-5p	CLIP-seq
MIRT1447501	hsa-miR-3149	CLIP-seq
MIRT1447502	hsa-miR-3163	CLIP-seq
MIRT2133785	hsa-miR-3167	CLIP-seq
MIRT2133786	hsa-miR-3187-3p	CLIP-seq
MIRT2133787	hsa-miR-3190	CLIP-seq
MIRT2133788	hsa-miR-3545-3p	CLIP-seq
MIRT1447506	hsa-miR-3617	CLIP-seq
MIRT2133789	hsa-miR-3646	CLIP-seq
MIRT1447507	hsa-miR-3662	CLIP-seq
MIRT2133790	hsa-miR-3663-5p	CLIP-seq
MIRT2133791	hsa-miR-3934	CLIP-seq
MIRT1447508	hsa-miR-411	CLIP-seq
MIRT2133792	hsa-miR-4256	CLIP-seq
MIRT1447509	hsa-miR-4269	CLIP-seq
MIRT2133793	hsa-miR-4273	CLIP-seq
MIRT2133794	hsa-miR-4312	CLIP-seq
MIRT2133795	hsa-miR-4435	CLIP-seq
MIRT1447511	hsa-miR-4514	CLIP-seq
MIRT2133796	hsa-miR-4635	CLIP-seq
MIRT2133797	hsa-miR-4677-5p	CLIP-seq
MIRT1447514	hsa-miR-4692	CLIP-seq
MIRT2133798	hsa-miR-4701-5p	CLIP-seq
MIRT1447516	hsa-miR-4716-5p	CLIP-seq
MIRT2133799	hsa-miR-4729	CLIP-seq
MIRT1447517	hsa-miR-4735-5p	CLIP-seq
MIRT1447518	hsa-miR-4742-5p	CLIP-seq
MIRT2133800	hsa-miR-4752	CLIP-seq
MIRT2133801	hsa-miR-4755-3p	CLIP-seq
MIRT1447520	hsa-miR-4766-5p	CLIP-seq
MIRT1447521	hsa-miR-4772-3p	CLIP-seq
MIRT1447522	hsa-miR-4775	CLIP-seq
MIRT2133802	hsa-miR-4778-3p	CLIP-seq
MIRT1447523	hsa-miR-4781-3p	CLIP-seq
MIRT1447524	hsa-miR-4803	CLIP-seq
MIRT1447525	hsa-miR-483-5p	CLIP-seq
MIRT2133803	hsa-miR-495	CLIP-seq
MIRT1447526	hsa-miR-501-3p	CLIP-seq
MIRT1447527	hsa-miR-502-3p	CLIP-seq
MIRT2133804	hsa-miR-502-5p	CLIP-seq
MIRT1447530	hsa-miR-5096	CLIP-seq
MIRT2133805	hsa-miR-522	CLIP-seq
MIRT2133806	hsa-miR-548s	CLIP-seq
MIRT2133807	hsa-miR-587	CLIP-seq
MIRT2133808	hsa-miR-588	CLIP-seq
MIRT1447538	hsa-miR-590-3p	CLIP-seq
MIRT2133809	hsa-miR-640	CLIP-seq
MIRT1447540	hsa-miR-641	CLIP-seq
MIRT2133810	hsa-miR-764	CLIP-seq
MIRT1447541	hsa-miR-767-5p	CLIP-seq
MIRT2133811	hsa-miR-876-5p	CLIP-seq
MIRT1447542	hsa-miR-944	CLIP-seq
MIRT2354943	hsa-miR-1179	CLIP-seq
MIRT1447493	hsa-miR-1200	CLIP-seq
MIRT2354944	hsa-miR-1228	CLIP-seq
MIRT1447495	hsa-miR-1307	CLIP-seq
MIRT2133782	hsa-miR-150	CLIP-seq
MIRT2354945	hsa-miR-191	CLIP-seq
MIRT2354946	hsa-miR-205	CLIP-seq
MIRT1447498	hsa-miR-217	CLIP-seq
MIRT1447500	hsa-miR-3140-5p	CLIP-seq
MIRT1447502	hsa-miR-3163	CLIP-seq
MIRT1447506	hsa-miR-3617	CLIP-seq
MIRT1447510	hsa-miR-4418	CLIP-seq
MIRT1447513	hsa-miR-4638-5p	CLIP-seq
MIRT2133799	hsa-miR-4729	CLIP-seq
MIRT1447520	hsa-miR-4766-5p	CLIP-seq
MIRT1447521	hsa-miR-4772-3p	CLIP-seq
MIRT1447523	hsa-miR-4781-3p	CLIP-seq
MIRT2133803	hsa-miR-495	CLIP-seq
MIRT1447528	hsa-miR-509-3-5p	CLIP-seq
MIRT1447529	hsa-miR-509-5p	CLIP-seq
MIRT2133805	hsa-miR-522	CLIP-seq
MIRT2354947	hsa-miR-548aa	CLIP-seq
MIRT1447540	hsa-miR-641	CLIP-seq
MIRT2133782	hsa-miR-150	CLIP-seq
MIRT1447497	hsa-miR-197	CLIP-seq
MIRT1447501	hsa-miR-3149	CLIP-seq
MIRT2133785	hsa-miR-3167	CLIP-seq
MIRT2133786	hsa-miR-3187-3p	CLIP-seq
MIRT1447508	hsa-miR-411	CLIP-seq
MIRT2133795	hsa-miR-4435	CLIP-seq
MIRT2133798	hsa-miR-4701-5p	CLIP-seq
MIRT1447516	hsa-miR-4716-5p	CLIP-seq
MIRT1447517	hsa-miR-4735-5p	CLIP-seq
MIRT2133801	hsa-miR-4755-3p	CLIP-seq
MIRT1447522	hsa-miR-4775	CLIP-seq
MIRT1447523	hsa-miR-4781-3p	CLIP-seq
MIRT1447525	hsa-miR-483-5p	CLIP-seq
MIRT1447526	hsa-miR-501-3p	CLIP-seq
MIRT1447527	hsa-miR-502-3p	CLIP-seq
MIRT1447530	hsa-miR-5096	CLIP-seq
MIRT2133806	hsa-miR-548s	CLIP-seq
MIRT2133808	hsa-miR-588	CLIP-seq
MIRT1447538	hsa-miR-590-3p	CLIP-seq
MIRT1447541	hsa-miR-767-5p	CLIP-seq
MIRT2133811	hsa-miR-876-5p	CLIP-seq
MIRT1447497	hsa-miR-197	CLIP-seq
MIRT1447501	hsa-miR-3149	CLIP-seq
MIRT2133786	hsa-miR-3187-3p	CLIP-seq
MIRT1447508	hsa-miR-411	CLIP-seq
MIRT2133795	hsa-miR-4435	CLIP-seq
MIRT2133798	hsa-miR-4701-5p	CLIP-seq
MIRT1447516	hsa-miR-4716-5p	CLIP-seq
MIRT1447517	hsa-miR-4735-5p	CLIP-seq
MIRT2133801	hsa-miR-4755-3p	CLIP-seq
MIRT1447522	hsa-miR-4775	CLIP-seq
MIRT1447523	hsa-miR-4781-3p	CLIP-seq
MIRT1447525	hsa-miR-483-5p	CLIP-seq
MIRT1447526	hsa-miR-501-3p	CLIP-seq
MIRT1447527	hsa-miR-502-3p	CLIP-seq
MIRT1447530	hsa-miR-5096	CLIP-seq
MIRT2133806	hsa-miR-548s	CLIP-seq
MIRT2133808	hsa-miR-588	CLIP-seq
MIRT1447538	hsa-miR-590-3p	CLIP-seq
MIRT1447541	hsa-miR-767-5p	CLIP-seq
MIRT2354943	hsa-miR-1179	CLIP-seq
MIRT1447493	hsa-miR-1200	CLIP-seq
MIRT2354944	hsa-miR-1228	CLIP-seq
MIRT2648685	hsa-miR-1238	CLIP-seq
MIRT2648686	hsa-miR-1244	CLIP-seq
MIRT2648687	hsa-miR-1245b-3p	CLIP-seq
MIRT2648688	hsa-miR-129-5p	CLIP-seq
MIRT2648689	hsa-miR-1321	CLIP-seq
MIRT2648690	hsa-miR-1323	CLIP-seq
MIRT2648691	hsa-miR-139-3p	CLIP-seq
MIRT2133782	hsa-miR-150	CLIP-seq
MIRT2648692	hsa-miR-186	CLIP-seq
MIRT2648693	hsa-miR-192	CLIP-seq
MIRT2648694	hsa-miR-194	CLIP-seq
MIRT1447497	hsa-miR-197	CLIP-seq
MIRT2133783	hsa-miR-2116	CLIP-seq
MIRT2648695	hsa-miR-215	CLIP-seq
MIRT2648696	hsa-miR-219-2-3p	CLIP-seq
MIRT2648697	hsa-miR-2277-5p	CLIP-seq
MIRT2648698	hsa-miR-2355-5p	CLIP-seq
MIRT2648699	hsa-miR-2909	CLIP-seq
MIRT2133784	hsa-miR-3124-3p	CLIP-seq
MIRT2648700	hsa-miR-3127-5p	CLIP-seq
MIRT2648701	hsa-miR-3129-3p	CLIP-seq
MIRT2648702	hsa-miR-3133	CLIP-seq
MIRT1447500	hsa-miR-3140-5p	CLIP-seq
MIRT2648703	hsa-miR-3143	CLIP-seq
MIRT1447501	hsa-miR-3149	CLIP-seq
MIRT2648704	hsa-miR-3153	CLIP-seq
MIRT2648705	hsa-miR-3162-5p	CLIP-seq
MIRT1447502	hsa-miR-3163	CLIP-seq
MIRT1447503	hsa-miR-3165	CLIP-seq
MIRT2133785	hsa-miR-3167	CLIP-seq
MIRT2648706	hsa-miR-3168	CLIP-seq
MIRT2648707	hsa-miR-3174	CLIP-seq
MIRT2133786	hsa-miR-3187-3p	CLIP-seq
MIRT1447504	hsa-miR-338-5p	CLIP-seq
MIRT2648708	hsa-miR-3606	CLIP-seq
MIRT2648709	hsa-miR-3613-3p	CLIP-seq
MIRT2133789	hsa-miR-3646	CLIP-seq
MIRT2648710	hsa-miR-3650	CLIP-seq
MIRT2648711	hsa-miR-3653	CLIP-seq
MIRT2648712	hsa-miR-3657	CLIP-seq
MIRT2648713	hsa-miR-3658	CLIP-seq
MIRT1447507	hsa-miR-3662	CLIP-seq
MIRT2133790	hsa-miR-3663-5p	CLIP-seq
MIRT2648714	hsa-miR-3664-3p	CLIP-seq
MIRT2648715	hsa-miR-3667-3p	CLIP-seq
MIRT2648716	hsa-miR-3672	CLIP-seq
MIRT2648717	hsa-miR-3681	CLIP-seq
MIRT2648718	hsa-miR-3691-5p	CLIP-seq
MIRT2648719	hsa-miR-409-5p	CLIP-seq
MIRT1447508	hsa-miR-411	CLIP-seq
MIRT1447509	hsa-miR-4269	CLIP-seq
MIRT2133793	hsa-miR-4273	CLIP-seq
MIRT2648720	hsa-miR-4275	CLIP-seq
MIRT2648721	hsa-miR-4287	CLIP-seq
MIRT2648722	hsa-miR-4292	CLIP-seq
MIRT2648723	hsa-miR-4308	CLIP-seq
MIRT2133794	hsa-miR-4312	CLIP-seq
MIRT2133795	hsa-miR-4435	CLIP-seq
MIRT2648724	hsa-miR-4455	CLIP-seq
MIRT2648725	hsa-miR-4476	CLIP-seq
MIRT2648726	hsa-miR-4479	CLIP-seq
MIRT2648727	hsa-miR-4495	CLIP-seq
MIRT2648728	hsa-miR-4496	CLIP-seq
MIRT2648729	hsa-miR-4506	CLIP-seq
MIRT1447511	hsa-miR-4514	CLIP-seq
MIRT1447512	hsa-miR-4522	CLIP-seq
MIRT2133796	hsa-miR-4635	CLIP-seq
MIRT2648730	hsa-miR-4668-3p	CLIP-seq
MIRT2648731	hsa-miR-4668-5p	CLIP-seq
MIRT2648732	hsa-miR-4669	CLIP-seq
MIRT2133797	hsa-miR-4677-5p	CLIP-seq
MIRT2648733	hsa-miR-4685-3p	CLIP-seq
MIRT2648734	hsa-miR-4691-5p	CLIP-seq
MIRT1447514	hsa-miR-4692	CLIP-seq
MIRT2648735	hsa-miR-4694-3p	CLIP-seq
MIRT1447515	hsa-miR-4699-3p	CLIP-seq
MIRT2133798	hsa-miR-4701-5p	CLIP-seq
MIRT1447516	hsa-miR-4716-5p	CLIP-seq
MIRT2133799	hsa-miR-4729	CLIP-seq
MIRT1447517	hsa-miR-4735-5p	CLIP-seq
MIRT2648736	hsa-miR-4738-3p	CLIP-seq
MIRT2648737	hsa-miR-4739	CLIP-seq
MIRT1447518	hsa-miR-4742-5p	CLIP-seq
MIRT2133801	hsa-miR-4755-3p	CLIP-seq
MIRT2648738	hsa-miR-4756-5p	CLIP-seq
MIRT2648739	hsa-miR-4760-3p	CLIP-seq
MIRT1447519	hsa-miR-4761-5p	CLIP-seq
MIRT1447522	hsa-miR-4775	CLIP-seq
MIRT2133802	hsa-miR-4778-3p	CLIP-seq
MIRT1447523	hsa-miR-4781-3p	CLIP-seq
MIRT1447524	hsa-miR-4803	CLIP-seq
MIRT1447525	hsa-miR-483-5p	CLIP-seq
MIRT2133803	hsa-miR-495	CLIP-seq
MIRT1447526	hsa-miR-501-3p	CLIP-seq
MIRT1447527	hsa-miR-502-3p	CLIP-seq
MIRT2133804	hsa-miR-502-5p	CLIP-seq
MIRT1447530	hsa-miR-5096	CLIP-seq
MIRT2648740	hsa-miR-510	CLIP-seq
MIRT2648741	hsa-miR-514	CLIP-seq
MIRT2648742	hsa-miR-514b-3p	CLIP-seq
MIRT2648743	hsa-miR-518a-5p	CLIP-seq
MIRT2133805	hsa-miR-522	CLIP-seq
MIRT2648744	hsa-miR-527	CLIP-seq
MIRT2648745	hsa-miR-539	CLIP-seq
MIRT2648746	hsa-miR-543	CLIP-seq
MIRT2354947	hsa-miR-548aa	CLIP-seq
MIRT1447531	hsa-miR-548ac	CLIP-seq
MIRT1447532	hsa-miR-548ae	CLIP-seq
MIRT1447533	hsa-miR-548aj	CLIP-seq
MIRT1447534	hsa-miR-548am	CLIP-seq
MIRT2648747	hsa-miR-548c-3p	CLIP-seq
MIRT1447535	hsa-miR-548d-3p	CLIP-seq
MIRT2648748	hsa-miR-548g	CLIP-seq
MIRT2648749	hsa-miR-548o	CLIP-seq
MIRT2133806	hsa-miR-548s	CLIP-seq
MIRT1447536	hsa-miR-548x	CLIP-seq
MIRT1447537	hsa-miR-548z	CLIP-seq
MIRT2648750	hsa-miR-550b	CLIP-seq
MIRT2648751	hsa-miR-579	CLIP-seq
MIRT2133807	hsa-miR-587	CLIP-seq
MIRT2133808	hsa-miR-588	CLIP-seq
MIRT1447538	hsa-miR-590-3p	CLIP-seq
MIRT2648752	hsa-miR-605	CLIP-seq
MIRT2648753	hsa-miR-606	CLIP-seq
MIRT2648754	hsa-miR-607	CLIP-seq
MIRT1447539	hsa-miR-624	CLIP-seq
MIRT1447541	hsa-miR-767-5p	CLIP-seq
MIRT2648755	hsa-miR-873	CLIP-seq
MIRT2133811	hsa-miR-876-5p	CLIP-seq
MIRT2648756	hsa-miR-921	CLIP-seq
MIRT2354943	hsa-miR-1179	CLIP-seq
MIRT1447493	hsa-miR-1200	CLIP-seq
MIRT2354944	hsa-miR-1228	CLIP-seq
MIRT2648685	hsa-miR-1238	CLIP-seq
MIRT2648686	hsa-miR-1244	CLIP-seq
MIRT2648687	hsa-miR-1245b-3p	CLIP-seq
MIRT2648688	hsa-miR-129-5p	CLIP-seq
MIRT2648689	hsa-miR-1321	CLIP-seq
MIRT2648690	hsa-miR-1323	CLIP-seq
MIRT2133782	hsa-miR-150	CLIP-seq
MIRT2648692	hsa-miR-186	CLIP-seq
MIRT2648693	hsa-miR-192	CLIP-seq
MIRT2648694	hsa-miR-194	CLIP-seq
MIRT1447497	hsa-miR-197	CLIP-seq
MIRT2133783	hsa-miR-2116	CLIP-seq
MIRT2648695	hsa-miR-215	CLIP-seq
MIRT2648696	hsa-miR-219-2-3p	CLIP-seq
MIRT2648697	hsa-miR-2277-5p	CLIP-seq
MIRT2648698	hsa-miR-2355-5p	CLIP-seq
MIRT2648699	hsa-miR-2909	CLIP-seq
MIRT2133784	hsa-miR-3124-3p	CLIP-seq
MIRT2648700	hsa-miR-3127-5p	CLIP-seq
MIRT2648701	hsa-miR-3129-3p	CLIP-seq
MIRT2648702	hsa-miR-3133	CLIP-seq
MIRT2648703	hsa-miR-3143	CLIP-seq
MIRT1447501	hsa-miR-3149	CLIP-seq
MIRT2648704	hsa-miR-3153	CLIP-seq
MIRT2648705	hsa-miR-3162-5p	CLIP-seq
MIRT1447502	hsa-miR-3163	CLIP-seq
MIRT1447503	hsa-miR-3165	CLIP-seq
MIRT2133785	hsa-miR-3167	CLIP-seq
MIRT2648706	hsa-miR-3168	CLIP-seq
MIRT2648707	hsa-miR-3174	CLIP-seq
MIRT2133786	hsa-miR-3187-3p	CLIP-seq
MIRT1447504	hsa-miR-338-5p	CLIP-seq
MIRT2648708	hsa-miR-3606	CLIP-seq
MIRT2648709	hsa-miR-3613-3p	CLIP-seq
MIRT2133789	hsa-miR-3646	CLIP-seq
MIRT2648710	hsa-miR-3650	CLIP-seq
MIRT2648711	hsa-miR-3653	CLIP-seq
MIRT2648712	hsa-miR-3657	CLIP-seq
MIRT2648713	hsa-miR-3658	CLIP-seq
MIRT1447507	hsa-miR-3662	CLIP-seq
MIRT2133790	hsa-miR-3663-5p	CLIP-seq
MIRT2648714	hsa-miR-3664-3p	CLIP-seq
MIRT2648715	hsa-miR-3667-3p	CLIP-seq
MIRT2648717	hsa-miR-3681	CLIP-seq
MIRT2648718	hsa-miR-3691-5p	CLIP-seq
MIRT2648719	hsa-miR-409-5p	CLIP-seq
MIRT1447508	hsa-miR-411	CLIP-seq
MIRT1447509	hsa-miR-4269	CLIP-seq
MIRT2133793	hsa-miR-4273	CLIP-seq
MIRT2648720	hsa-miR-4275	CLIP-seq
MIRT2648721	hsa-miR-4287	CLIP-seq
MIRT2648722	hsa-miR-4292	CLIP-seq
MIRT2648723	hsa-miR-4308	CLIP-seq
MIRT2133794	hsa-miR-4312	CLIP-seq
MIRT2133795	hsa-miR-4435	CLIP-seq
MIRT2648724	hsa-miR-4455	CLIP-seq
MIRT2648725	hsa-miR-4476	CLIP-seq
MIRT2648726	hsa-miR-4479	CLIP-seq
MIRT2648728	hsa-miR-4496	CLIP-seq
MIRT2648729	hsa-miR-4506	CLIP-seq
MIRT1447511	hsa-miR-4514	CLIP-seq
MIRT1447512	hsa-miR-4522	CLIP-seq
MIRT2133796	hsa-miR-4635	CLIP-seq
MIRT2648730	hsa-miR-4668-3p	CLIP-seq
MIRT2648731	hsa-miR-4668-5p	CLIP-seq
MIRT2648732	hsa-miR-4669	CLIP-seq
MIRT2133797	hsa-miR-4677-5p	CLIP-seq
MIRT2648733	hsa-miR-4685-3p	CLIP-seq
MIRT2648734	hsa-miR-4691-5p	CLIP-seq
MIRT1447514	hsa-miR-4692	CLIP-seq
MIRT2648735	hsa-miR-4694-3p	CLIP-seq
MIRT1447515	hsa-miR-4699-3p	CLIP-seq
MIRT2133798	hsa-miR-4701-5p	CLIP-seq
MIRT1447516	hsa-miR-4716-5p	CLIP-seq
MIRT2133799	hsa-miR-4729	CLIP-seq
MIRT1447517	hsa-miR-4735-5p	CLIP-seq
MIRT2648736	hsa-miR-4738-3p	CLIP-seq
MIRT2648737	hsa-miR-4739	CLIP-seq
MIRT1447518	hsa-miR-4742-5p	CLIP-seq
MIRT2133801	hsa-miR-4755-3p	CLIP-seq
MIRT2648738	hsa-miR-4756-5p	CLIP-seq
MIRT2648739	hsa-miR-4760-3p	CLIP-seq
MIRT1447519	hsa-miR-4761-5p	CLIP-seq
MIRT1447522	hsa-miR-4775	CLIP-seq
MIRT2133802	hsa-miR-4778-3p	CLIP-seq
MIRT1447523	hsa-miR-4781-3p	CLIP-seq
MIRT1447524	hsa-miR-4803	CLIP-seq
MIRT1447525	hsa-miR-483-5p	CLIP-seq
MIRT2133803	hsa-miR-495	CLIP-seq
MIRT1447526	hsa-miR-501-3p	CLIP-seq
MIRT1447527	hsa-miR-502-3p	CLIP-seq
MIRT2133804	hsa-miR-502-5p	CLIP-seq
MIRT1447530	hsa-miR-5096	CLIP-seq
MIRT2648740	hsa-miR-510	CLIP-seq
MIRT2648741	hsa-miR-514	CLIP-seq
MIRT2648742	hsa-miR-514b-3p	CLIP-seq
MIRT2648743	hsa-miR-518a-5p	CLIP-seq
MIRT2133805	hsa-miR-522	CLIP-seq
MIRT2648744	hsa-miR-527	CLIP-seq
MIRT2648745	hsa-miR-539	CLIP-seq
MIRT2648746	hsa-miR-543	CLIP-seq
MIRT2354947	hsa-miR-548aa	CLIP-seq
MIRT1447531	hsa-miR-548ac	CLIP-seq
MIRT1447532	hsa-miR-548ae	CLIP-seq
MIRT1447533	hsa-miR-548aj	CLIP-seq
MIRT1447534	hsa-miR-548am	CLIP-seq
MIRT2648747	hsa-miR-548c-3p	CLIP-seq
MIRT1447535	hsa-miR-548d-3p	CLIP-seq
MIRT2648748	hsa-miR-548g	CLIP-seq
MIRT2648749	hsa-miR-548o	CLIP-seq
MIRT2133806	hsa-miR-548s	CLIP-seq
MIRT1447536	hsa-miR-548x	CLIP-seq
MIRT1447537	hsa-miR-548z	CLIP-seq
MIRT2648750	hsa-miR-550b	CLIP-seq
MIRT2133807	hsa-miR-587	CLIP-seq
MIRT2133808	hsa-miR-588	CLIP-seq
MIRT1447538	hsa-miR-590-3p	CLIP-seq
MIRT2648752	hsa-miR-605	CLIP-seq
MIRT2648753	hsa-miR-606	CLIP-seq
MIRT2648754	hsa-miR-607	CLIP-seq
MIRT1447539	hsa-miR-624	CLIP-seq
MIRT1447541	hsa-miR-767-5p	CLIP-seq
MIRT2648755	hsa-miR-873	CLIP-seq
MIRT2133811	hsa-miR-876-5p	CLIP-seq
MIRT2648756	hsa-miR-921	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001671	Function	ATPase activator activity	IDA	23569223
GO:0001671	Function	ATPase activator activity	IEA
GO:0005515	Function	Protein binding	IPI	21044950, 22321011, 23569223, 24116158, 32814053
GO:0005521	Function	Lamin binding	IEA
GO:0005634	Component	Nucleus	IDA	24275647, 25461922
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	IDA	25461922
GO:0005635	Component	Nuclear envelope	IEA
GO:0005637	Component	Nuclear inner membrane	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0008092	Function	Cytoskeletal protein binding	IPI	16361107
GO:0012505	Component	Endomembrane system	IEA
GO:0016020	Component	Membrane	IEA
GO:0031965	Component	Nuclear membrane	IBA
GO:0031965	Component	Nuclear membrane	IDA
GO:0032781	Process	Positive regulation of ATP-dependent activity	IDA	23569223
GO:0034504	Process	Protein localization to nucleus	ISS
GO:0051117	Function	ATPase binding	IEA
GO:0051117	Function	ATPase binding	IPI	23569223
GO:0071763	Process	Nuclear membrane organization	IBA
GO:0071763	Process	Nuclear membrane organization	IEA
GO:0090435	Process	Protein localization to nuclear envelope	IEA

Other IDs

• MIM: 614512
• HGNC: 29456
• e!Ensembl: ENSG00000143337

Protein

• UniProt ID: Q5JTV8
• Protein name: Torsin-1A-interacting protein 1 (Lamin-associated protein 1B) (LAP1B)
• Protein function: Required for nuclear membrane integrity. Induces TOR1A and TOR1B ATPase activity and is required for their location on the nuclear membrane. Binds to A- and B-type lamins. Possible role in membrane attachment and assembly of the nuclear lamina.
• PDB: 4TVS
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05609	LAP1C	149 → 583	Lamina-associated polypeptide 1C (LAP1C)	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in muscle, liver and kidney. {ECO:0000269|PubMed:24856141}.; TISSUE SPECIFICITY: [Isoform 1]: Major isoform present in liver, brain and heart (at protein level). Expressed at lower levels than isoform 4 in lung, kidney and sp
• Sequence:

  MAGDGRRAEAVREGWGVYVTPRAPIREGRGRLAPQNGGSSDAPAYRTPPSRQGRREVRFS
  DEPPEVYGDFEPLVAKERSPVGKRTRLEEFRSDSAKEEVRESAYYLRSRQRRQPRPQETE
  EMKTRRTTRLQQQHSEQPPLQPSPVMTRRGLRDSHSSEEDEASSQTDLSQTISKKTVRSI
  QEAPVSEDLVIRLRRPPLRYPRYEATSVQQKVNFSEEGETEEDDQDSSHSSVTTVKARSR
  DSDESGDKTTRSSSQYIESFWQSSQSQNFTAHDKQPSVLSSGYQKTPQEWAPQTARIRTR
  MQNDSILKSELGNQSPSTSSRQVTGQPQNASFVKRNRWWLLPLIAALASGSFWFFSTPEV
  ETTAVQEFQNQMNQLKNKYQGQDEKLWKRSQTFLEKHLNSSHPRSQPAILLLTAARDAEE
  ALRCLSEQIADAYSSFRSVRAIRIDGTDKATQDSDTVKLEVDQELSNGFKNGQNAAVVHR
  FESFPAGSTLIFYKYCDHENAAFKDVALVLTVLLEEETLGTSLGLKEVEEKVRDFLKVKF
  TNSNTPNSYNHMDPDKLNGLWSRISHLVLPVQPENALKRGICL

• Sequence length: 583

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
Autosomal recessive limb-girdle muscular dystrophy type 2Y	Pathogenic; Likely pathogenic	rs2148468818, rs374232191, rs2148468809, rs2148468861, rs1193188647, rs900977276, rs771280075, rs112561258, rs907592735, rs201518227, rs778326858, rs1180978840, rs1571735403, rs11581962, rs1648544786, rs756798409, rs1648457474, rs1647993845, rs1647734130	RCV001881617 RCV001939436 RCV001877950 RCV002000140 RCV001870185 RCV001963866 RCV003002775 RCV003832288 RCV003882670 RCV000626055 RCV000817819 RCV000798451 RCV000797796 RCV000991359 RCV001069849 RCV001045706 RCV001222816 RCV001224043 RCV001232336	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Centronuclear myopathy	Pathogenic	rs2526558374	RCV004587610	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TOR1AIP1-related disorder	Likely pathogenic	rs1318942147	RCV003420871	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Adrenocortical carcinoma, hereditary	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE LIMB GIRDLE MUSCULAR DYSTROPHY TYPE 2Y	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign; Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUSCULAR DYSTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Likely benign; Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillary renal cell carcinoma type 1	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOR1AIP1-RELATED LIMB-GIRDLE MUSCULAR DYSTROPHY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOR1AIP1-RELATED MULTISYSTEM DISORDER	—	ClinGen, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOR1AIP1-RELATED MYOPATHY	—	ClinGen, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Cardiomyopathies	Cardiomyopathy	BEFREE	25425325		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	25425325	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	25425325	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	27342937		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	30723199, 32055997	Associate	★☆☆☆☆ Found in Text Mining only
Cataract Nuclear Progressive	Congenital cataract	Pubtator	30723199	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	25425325, 30723199	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	32055997	Associate	★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	27342937		★☆☆☆☆ Found in Text Mining only
Contracture	Contracture	Pubtator	32055997	Associate	★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	32055997	Associate	★☆☆☆☆ Found in Text Mining only
Dysferlinopathy	Dysferlinopathy	BEFREE	28110863		★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	25425325, 30723199	Associate	★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	19651773, 25425325, 25461922, 26596547		★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	31589164		★☆☆☆☆ Found in Text Mining only
Glaucoma, Open-Angle	Glaucoma	GWASDB_DG	22428042		★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	30723199, 32055997	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	27342937		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	32055997	Associate	★☆☆☆☆ Found in Text Mining only
Heart Septal Defects Ventricular	Congenital heart septal defect	Pubtator	32055997	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25965830		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	36624187	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	32055997	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	BEFREE	27342937, 31299614		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	24055652, 24856141, 26596547, 27342937, 28110863, 30723199, 31299614		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscular Dystrophy	Muscular dystrophy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOPATHY, AUTOSOMAL RECESSIVE, WITH RIGID SPINE AND DISTAL JOINT CONTRACTURES	MYOPATHY, WITH RIGID SPINE AND DISTAL JOINT CONTRACTURES	GENOMICS_ENGLAND_DG	24856141		★☆☆☆☆ Found in Text Mining only
MYOPATHY, AUTOSOMAL RECESSIVE, WITH RIGID SPINE AND DISTAL JOINT CONTRACTURES	MYOPATHY, WITH RIGID SPINE AND DISTAL JOINT CONTRACTURES	ORPHANET_DG	24856141		★☆☆☆☆ Found in Text Mining only
MYOPATHY, AUTOSOMAL RECESSIVE, WITH RIGID SPINE AND DISTAL JOINT CONTRACTURES	MYOPATHY, WITH RIGID SPINE AND DISTAL JOINT CONTRACTURES	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
MYOPATHY, AUTOSOMAL RECESSIVE, WITH RIGID SPINE AND DISTAL JOINT CONTRACTURES	MYOPATHY, WITH RIGID SPINE AND DISTAL JOINT CONTRACTURES	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	30723199, 32055997	Associate	★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	31408437		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	31408437, 31589164		★☆☆☆☆ Found in Text Mining only
TOR1AIP1-related limb-girdle muscular dystrophy	Limb-girdle muscular dystrophy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-Linked Emery-Dreifuss Muscular Dystrophy	Emery-Dreifuss Muscular Dystrophy, X-Linked	BEFREE	25461922		★☆☆☆☆ Found in Text Mining only