SERPINH1 (serpin family H member 1)

Gene

• Entrez ID: 871
• Gene name: Serpin family H member 1
• Gene symbol: SERPINH1
• Synonyms (NCBI Gene): AsTP3, CBP1, CBP2, HSP47, OI10, PIG14, PPROM, RA-A47, SERPINH2, gp46
• Chromosome: 11
• Chromosome location: 11q13.5
• Summary: This gene encodes a member of the serpin superfamily of serine proteinase inhibitors. The encoded protein is localized to the endoplasmic reticulum and plays a role in collagen biosynthesis as a collagen-specific molecular chaperone. Autoantibodies to the

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs137853892	T>C	Pathogenic	Coding sequence variant, missense variant
rs886039819	T>C	Pathogenic	Missense variant, coding sequence variant
rs1565244847	->T	Pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022927	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT029883	hsa-miR-26b-5p	Microarray	19088304
MIRT041847	hsa-miR-484	CLASH	23622248
MIRT041847	hsa-miR-484	CLASH	23622248
MIRT053747	hsa-miR-29b-3p	Microarray	22942087
MIRT437548	hsa-miR-29a-3p	Luciferase reporter assay	22745231
MIRT053747	hsa-miR-29b-3p	Luciferase reporter assay	22745231
MIRT437560	hsa-miR-29c-3p	Luciferase reporter assay	22745231
MIRT437570	hsa-miR-767-5p	Luciferase reporter assay	22745231
MIRT437548	hsa-miR-29a-3p	Luciferase reporter assay, qRT-PCR, Western blot	24141696
MIRT437548	hsa-miR-29a-3p	Luciferase reporter assay, qRT-PCR, Western blot	24141696
MIRT437548	hsa-miR-29a-3p	Luciferase reporter assay, qRT-PCR, Western blot	24141696
MIRT437548	hsa-miR-29a-3p	Luciferase reporter assay, qRT-PCR, Western blot	24141696
MIRT231349	hsa-miR-5197-3p	HITS-CLIP	23313552
MIRT699728	hsa-miR-6854-5p	HITS-CLIP	23313552
MIRT394812	hsa-miR-4446-3p	HITS-CLIP	23313552
MIRT334257	hsa-miR-5002-5p	HITS-CLIP	23313552
MIRT334256	hsa-miR-4750-3p	HITS-CLIP	23313552
MIRT334255	hsa-miR-3064-5p	HITS-CLIP	23313552
MIRT334258	hsa-miR-6504-5p	HITS-CLIP	23313552
MIRT334259	hsa-miR-6859-3p	HITS-CLIP	23313552
MIRT699727	hsa-miR-6846-3p	HITS-CLIP	23313552
MIRT394815	hsa-miR-4721	HITS-CLIP	23313552
MIRT334260	hsa-miR-7158-5p	HITS-CLIP	23313552
MIRT394817	hsa-miR-5580-5p	HITS-CLIP	23313552
MIRT394813	hsa-miR-4492	HITS-CLIP	23313552
MIRT394814	hsa-miR-4498	HITS-CLIP	23313552
MIRT394816	hsa-miR-5001-5p	HITS-CLIP	23313552
MIRT394810	hsa-miR-762	HITS-CLIP	23313552
MIRT699726	hsa-miR-142-3p	HITS-CLIP	23313552
MIRT231348	hsa-miR-3591-5p	HITS-CLIP	23313552
MIRT699725	hsa-miR-133a-3p	HITS-CLIP	23313552
MIRT699724	hsa-miR-133b	HITS-CLIP	23313552
MIRT639940	hsa-miR-6801-3p	HITS-CLIP	23824327
MIRT639939	hsa-miR-6810-3p	HITS-CLIP	23824327
MIRT639938	hsa-miR-331-3p	HITS-CLIP	23824327
MIRT639937	hsa-miR-5193	HITS-CLIP	23824327
MIRT639936	hsa-miR-1283	HITS-CLIP	23824327
MIRT639935	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT639934	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT639933	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT639932	hsa-miR-187-5p	HITS-CLIP	23824327
MIRT639931	hsa-miR-548v	HITS-CLIP	23824327
MIRT639930	hsa-miR-221-3p	HITS-CLIP	23824327
MIRT639929	hsa-miR-222-3p	HITS-CLIP	23824327
MIRT639928	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT639927	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT639926	hsa-miR-1262	HITS-CLIP	23824327
MIRT639925	hsa-miR-4701-3p	HITS-CLIP	23824327
MIRT639924	hsa-miR-6736-5p	HITS-CLIP	23824327
MIRT639923	hsa-miR-6741-5p	HITS-CLIP	23824327
MIRT539659	hsa-miR-892b	PAR-CLIP	21572407
MIRT539658	hsa-miR-4463	PAR-CLIP	21572407
MIRT539657	hsa-miR-1825	PAR-CLIP	21572407
MIRT539656	hsa-miR-199a-5p	PAR-CLIP	21572407
MIRT539655	hsa-miR-199b-5p	PAR-CLIP	21572407
MIRT539654	hsa-miR-149-5p	PAR-CLIP	21572407
MIRT468538	hsa-miR-370-5p	PAR-CLIP	22012620
MIRT534383	hsa-miR-4726-3p	PAR-CLIP	22012620
MIRT468537	hsa-miR-361-3p	PAR-CLIP	22012620
MIRT468535	hsa-miR-3140-5p	PAR-CLIP	22012620
MIRT468534	hsa-miR-3667-3p	PAR-CLIP	22012620
MIRT468532	hsa-miR-378a-5p	PAR-CLIP	22012620
MIRT468531	hsa-miR-1200	PAR-CLIP	22012620
MIRT498688	hsa-miR-200b-3p	PAR-CLIP	24398324
MIRT498687	hsa-miR-200c-3p	PAR-CLIP	24398324
MIRT498686	hsa-miR-429	PAR-CLIP	24398324
MIRT334252	hsa-miR-4517	PAR-CLIP	24398324
MIRT498685	hsa-miR-6808-5p	PAR-CLIP	24398324
MIRT498683	hsa-miR-6893-5p	PAR-CLIP	24398324
MIRT498684	hsa-miR-940	PAR-CLIP	24398324
MIRT334253	hsa-miR-4794	PAR-CLIP	24398324
MIRT334250	hsa-miR-664a-5p	PAR-CLIP	24398324
MIRT373698	hsa-miR-1827	PAR-CLIP	24398324
MIRT498682	hsa-miR-6765-5p	PAR-CLIP	24398324
MIRT498681	hsa-miR-1304-5p	PAR-CLIP	24398324
MIRT468538	hsa-miR-370-5p	PAR-CLIP	23592263
MIRT468537	hsa-miR-361-3p	PAR-CLIP	23592263
MIRT468536	hsa-miR-5088-3p	PAR-CLIP	23592263
MIRT468535	hsa-miR-3140-5p	PAR-CLIP	23592263
MIRT468534	hsa-miR-3667-3p	PAR-CLIP	23592263
MIRT468533	hsa-miR-9-5p	PAR-CLIP	23592263
MIRT468532	hsa-miR-378a-5p	PAR-CLIP	23592263
MIRT468531	hsa-miR-1200	PAR-CLIP	23592263
MIRT468530	hsa-miR-7150	PAR-CLIP	23592263
MIRT468529	hsa-miR-182-5p	PAR-CLIP	23592263
MIRT468528	hsa-miR-1271-5p	PAR-CLIP	23592263
MIRT468527	hsa-miR-96-5p	PAR-CLIP	23592263
MIRT437548	hsa-miR-29a-3p	Next Generation Sequencing (NGS), qRT-PCR, Western blot	26199111
MIRT053747	hsa-miR-29b-3p	Luciferase reporter assay, qRT-PCR, Western blot	25744716
MIRT053747	hsa-miR-29b-3p	Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blot	27477081
MIRT053747	hsa-miR-29b-3p	Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blot	27477081
MIRT468531	hsa-miR-1200	PAR-CLIP	26701625
MIRT699726	hsa-miR-142-3p	PAR-CLIP	26701625
MIRT699726	hsa-miR-142-3p	PAR-CLIP	26701625
MIRT468535	hsa-miR-3140-5p	PAR-CLIP	26701625
MIRT231348	hsa-miR-3591-5p	PAR-CLIP	26701625
MIRT231348	hsa-miR-3591-5p	PAR-CLIP	26701625
MIRT468537	hsa-miR-361-3p	PAR-CLIP	26701625
MIRT468538	hsa-miR-370-5p	PAR-CLIP	26701625
MIRT468532	hsa-miR-378a-5p	PAR-CLIP	26701625
MIRT394812	hsa-miR-4446-3p	PAR-CLIP	26701625
MIRT394812	hsa-miR-4446-3p	PAR-CLIP	26701625
MIRT394813	hsa-miR-4492	PAR-CLIP	26701625
MIRT394813	hsa-miR-4492	PAR-CLIP	26701625
MIRT394814	hsa-miR-4498	PAR-CLIP	26701625
MIRT394814	hsa-miR-4498	PAR-CLIP	26701625
MIRT394815	hsa-miR-4721	PAR-CLIP	26701625
MIRT394815	hsa-miR-4721	PAR-CLIP	26701625
MIRT534383	hsa-miR-4726-3p	PAR-CLIP	26701625
MIRT394816	hsa-miR-5001-5p	PAR-CLIP	26701625
MIRT394816	hsa-miR-5001-5p	PAR-CLIP	26701625
MIRT231349	hsa-miR-5197-3p	PAR-CLIP	26701625
MIRT231349	hsa-miR-5197-3p	PAR-CLIP	26701625
MIRT394817	hsa-miR-5580-5p	PAR-CLIP	26701625
MIRT394817	hsa-miR-5580-5p	PAR-CLIP	26701625
MIRT394810	hsa-miR-762	PAR-CLIP	26701625
MIRT394810	hsa-miR-762	PAR-CLIP	26701625
MIRT539654	hsa-miR-149-5p	PAR-CLIP	27292025
MIRT539657	hsa-miR-1825	PAR-CLIP	27292025
MIRT539656	hsa-miR-199a-5p	PAR-CLIP	27292025
MIRT539655	hsa-miR-199b-5p	PAR-CLIP	27292025
MIRT539658	hsa-miR-4463	PAR-CLIP	27292025
MIRT539659	hsa-miR-892b	PAR-CLIP	27292025
MIRT735457	hsa-miR-148a-5p	Luciferase reporter assay, Western blotting, Immunohistochemistry (IHC), qRT-PCR	32235846
MIRT231349	hsa-miR-5197-3p	HITS-CLIP	23313552
MIRT699728	hsa-miR-6854-5p	HITS-CLIP	23313552
MIRT394812	hsa-miR-4446-3p	HITS-CLIP	23313552
MIRT334257	hsa-miR-5002-5p	HITS-CLIP	23313552
MIRT334256	hsa-miR-4750-3p	HITS-CLIP	23313552
MIRT334255	hsa-miR-3064-5p	HITS-CLIP	23313552
MIRT334258	hsa-miR-6504-5p	HITS-CLIP	23313552
MIRT334259	hsa-miR-6859-3p	HITS-CLIP	23313552
MIRT699727	hsa-miR-6846-3p	HITS-CLIP	23313552
MIRT394815	hsa-miR-4721	HITS-CLIP	23313552
MIRT334260	hsa-miR-7158-5p	HITS-CLIP	23313552
MIRT394817	hsa-miR-5580-5p	HITS-CLIP	23313552
MIRT394813	hsa-miR-4492	HITS-CLIP	23313552
MIRT394814	hsa-miR-4498	HITS-CLIP	23313552
MIRT394816	hsa-miR-5001-5p	HITS-CLIP	23313552
MIRT394810	hsa-miR-762	HITS-CLIP	23313552
MIRT699726	hsa-miR-142-3p	HITS-CLIP	23313552
MIRT231348	hsa-miR-3591-5p	HITS-CLIP	23313552
MIRT699725	hsa-miR-133a-3p	HITS-CLIP	23313552
MIRT699724	hsa-miR-133b	HITS-CLIP	23313552
MIRT639940	hsa-miR-6801-3p	HITS-CLIP	23824327
MIRT639939	hsa-miR-6810-3p	HITS-CLIP	23824327
MIRT639938	hsa-miR-331-3p	HITS-CLIP	23824327
MIRT639937	hsa-miR-5193	HITS-CLIP	23824327
MIRT639936	hsa-miR-1283	HITS-CLIP	23824327
MIRT639935	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT639934	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT639933	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT639932	hsa-miR-187-5p	HITS-CLIP	23824327
MIRT639931	hsa-miR-548v	HITS-CLIP	23824327
MIRT639930	hsa-miR-221-3p	HITS-CLIP	23824327
MIRT639929	hsa-miR-222-3p	HITS-CLIP	23824327
MIRT639928	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT639927	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT639926	hsa-miR-1262	HITS-CLIP	23824327
MIRT639925	hsa-miR-4701-3p	HITS-CLIP	23824327
MIRT639924	hsa-miR-6736-5p	HITS-CLIP	23824327
MIRT639923	hsa-miR-6741-5p	HITS-CLIP	23824327
MIRT539659	hsa-miR-892b	PAR-CLIP	21572407
MIRT539658	hsa-miR-4463	PAR-CLIP	21572407
MIRT539657	hsa-miR-1825	PAR-CLIP	21572407
MIRT539656	hsa-miR-199a-5p	PAR-CLIP	21572407
MIRT539655	hsa-miR-199b-5p	PAR-CLIP	21572407
MIRT539654	hsa-miR-149-5p	PAR-CLIP	21572407
MIRT468538	hsa-miR-370-5p	PAR-CLIP	22012620
MIRT534383	hsa-miR-4726-3p	PAR-CLIP	22012620
MIRT468537	hsa-miR-361-3p	PAR-CLIP	22012620
MIRT468535	hsa-miR-3140-5p	PAR-CLIP	22012620
MIRT468534	hsa-miR-3667-3p	PAR-CLIP	22012620
MIRT468532	hsa-miR-378a-5p	PAR-CLIP	22012620
MIRT468531	hsa-miR-1200	PAR-CLIP	22012620
MIRT498688	hsa-miR-200b-3p	PAR-CLIP	24398324
MIRT498687	hsa-miR-200c-3p	PAR-CLIP	24398324
MIRT498686	hsa-miR-429	PAR-CLIP	24398324
MIRT334252	hsa-miR-4517	PAR-CLIP	24398324
MIRT498685	hsa-miR-6808-5p	PAR-CLIP	24398324
MIRT498683	hsa-miR-6893-5p	PAR-CLIP	24398324
MIRT498684	hsa-miR-940	PAR-CLIP	24398324
MIRT334253	hsa-miR-4794	PAR-CLIP	24398324
MIRT334250	hsa-miR-664a-5p	PAR-CLIP	24398324
MIRT373698	hsa-miR-1827	PAR-CLIP	24398324
MIRT498682	hsa-miR-6765-5p	PAR-CLIP	24398324
MIRT498681	hsa-miR-1304-5p	PAR-CLIP	24398324
MIRT468538	hsa-miR-370-5p	PAR-CLIP	23592263
MIRT468537	hsa-miR-361-3p	PAR-CLIP	23592263
MIRT468536	hsa-miR-5088-3p	PAR-CLIP	23592263
MIRT468535	hsa-miR-3140-5p	PAR-CLIP	23592263
MIRT468534	hsa-miR-3667-3p	PAR-CLIP	23592263
MIRT468533	hsa-miR-9-5p	PAR-CLIP	23592263
MIRT468532	hsa-miR-378a-5p	PAR-CLIP	23592263
MIRT468531	hsa-miR-1200	PAR-CLIP	23592263
MIRT468530	hsa-miR-7150	PAR-CLIP	23592263
MIRT468529	hsa-miR-182-5p	PAR-CLIP	23592263
MIRT468528	hsa-miR-1271-5p	PAR-CLIP	23592263
MIRT468527	hsa-miR-96-5p	PAR-CLIP	23592263
MIRT1338917	hsa-miR-122	CLIP-seq
MIRT1338918	hsa-miR-3065-5p	CLIP-seq
MIRT1338919	hsa-miR-3127-5p	CLIP-seq
MIRT1338920	hsa-miR-3192	CLIP-seq
MIRT1338921	hsa-miR-3199	CLIP-seq
MIRT1338922	hsa-miR-3679-3p	CLIP-seq
MIRT1338923	hsa-miR-3691-3p	CLIP-seq
MIRT1338924	hsa-miR-3918	CLIP-seq
MIRT1338925	hsa-miR-4314	CLIP-seq
MIRT1338926	hsa-miR-432	CLIP-seq
MIRT1338927	hsa-miR-4436b-3p	CLIP-seq
MIRT1338928	hsa-miR-4452	CLIP-seq
MIRT1338929	hsa-miR-4514	CLIP-seq
MIRT1338930	hsa-miR-4641	CLIP-seq
MIRT1338931	hsa-miR-4646-5p	CLIP-seq
MIRT1338932	hsa-miR-4692	CLIP-seq
MIRT1338933	hsa-miR-4747-5p	CLIP-seq
MIRT1338934	hsa-miR-493	CLIP-seq
MIRT1338935	hsa-miR-103a	CLIP-seq
MIRT1338936	hsa-miR-107	CLIP-seq
MIRT1338937	hsa-miR-1180	CLIP-seq
MIRT1338938	hsa-miR-1184	CLIP-seq
MIRT1338917	hsa-miR-122	CLIP-seq
MIRT1338939	hsa-miR-1253	CLIP-seq
MIRT1338940	hsa-miR-1254	CLIP-seq
MIRT1338941	hsa-miR-125a-3p	CLIP-seq
MIRT1338942	hsa-miR-1265	CLIP-seq
MIRT1338943	hsa-miR-1304	CLIP-seq
MIRT1338944	hsa-miR-188-3p	CLIP-seq
MIRT1338945	hsa-miR-1915	CLIP-seq
MIRT1338946	hsa-miR-200b	CLIP-seq
MIRT1338947	hsa-miR-200c	CLIP-seq
MIRT1338948	hsa-miR-24	CLIP-seq
MIRT1338949	hsa-miR-2681	CLIP-seq
MIRT1338950	hsa-miR-29a	CLIP-seq
MIRT1338951	hsa-miR-29b	CLIP-seq
MIRT1338952	hsa-miR-29c	CLIP-seq
MIRT1338953	hsa-miR-3065-3p	CLIP-seq
MIRT1338918	hsa-miR-3065-5p	CLIP-seq
MIRT1338954	hsa-miR-3116	CLIP-seq
MIRT1338955	hsa-miR-3126-3p	CLIP-seq
MIRT1338919	hsa-miR-3127-5p	CLIP-seq
MIRT1338956	hsa-miR-3136-3p	CLIP-seq
MIRT1338957	hsa-miR-3150a-3p	CLIP-seq
MIRT1338958	hsa-miR-3175	CLIP-seq
MIRT1338920	hsa-miR-3192	CLIP-seq
MIRT1338921	hsa-miR-3199	CLIP-seq
MIRT1338959	hsa-miR-342-5p	CLIP-seq
MIRT1338960	hsa-miR-3612	CLIP-seq
MIRT1338922	hsa-miR-3679-3p	CLIP-seq
MIRT1338961	hsa-miR-3692	CLIP-seq
MIRT1338924	hsa-miR-3918	CLIP-seq
MIRT1338962	hsa-miR-4269	CLIP-seq
MIRT1338963	hsa-miR-4281	CLIP-seq
MIRT1338964	hsa-miR-4310	CLIP-seq
MIRT1338925	hsa-miR-4314	CLIP-seq
MIRT1338926	hsa-miR-432	CLIP-seq
MIRT1338965	hsa-miR-4425	CLIP-seq
MIRT1338927	hsa-miR-4436b-3p	CLIP-seq
MIRT1338966	hsa-miR-4437	CLIP-seq
MIRT1338928	hsa-miR-4452	CLIP-seq
MIRT1338967	hsa-miR-4487	CLIP-seq
MIRT1338968	hsa-miR-4491	CLIP-seq
MIRT1338969	hsa-miR-4497	CLIP-seq
MIRT1338970	hsa-miR-450b-3p	CLIP-seq
MIRT1338929	hsa-miR-4514	CLIP-seq
MIRT1338931	hsa-miR-4646-5p	CLIP-seq
MIRT1338971	hsa-miR-4653-3p	CLIP-seq
MIRT1338972	hsa-miR-4657	CLIP-seq
MIRT1338973	hsa-miR-4664-3p	CLIP-seq
MIRT1338974	hsa-miR-4664-5p	CLIP-seq
MIRT1338975	hsa-miR-4667-5p	CLIP-seq
MIRT1338976	hsa-miR-4681	CLIP-seq
MIRT1338932	hsa-miR-4692	CLIP-seq
MIRT1338977	hsa-miR-4700-5p	CLIP-seq
MIRT1338978	hsa-miR-4731-5p	CLIP-seq
MIRT1338979	hsa-miR-4742-5p	CLIP-seq
MIRT1338933	hsa-miR-4747-5p	CLIP-seq
MIRT1338980	hsa-miR-4764-5p	CLIP-seq
MIRT1338934	hsa-miR-493	CLIP-seq
MIRT1338981	hsa-miR-550a	CLIP-seq
MIRT1338982	hsa-miR-572	CLIP-seq
MIRT1338983	hsa-miR-602	CLIP-seq
MIRT1338984	hsa-miR-619	CLIP-seq
MIRT1338985	hsa-miR-637	CLIP-seq
MIRT1338986	hsa-miR-650	CLIP-seq
MIRT1338987	hsa-miR-661	CLIP-seq
MIRT1338988	hsa-miR-769-3p	CLIP-seq
MIRT1338989	hsa-miR-939	CLIP-seq
MIRT1338919	hsa-miR-3127-5p	CLIP-seq
MIRT1338920	hsa-miR-3192	CLIP-seq
MIRT1338921	hsa-miR-3199	CLIP-seq
MIRT1338923	hsa-miR-3691-3p	CLIP-seq
MIRT1338924	hsa-miR-3918	CLIP-seq
MIRT1338925	hsa-miR-4314	CLIP-seq
MIRT1338927	hsa-miR-4436b-3p	CLIP-seq
MIRT1338929	hsa-miR-4514	CLIP-seq
MIRT1338931	hsa-miR-4646-5p	CLIP-seq
MIRT1338975	hsa-miR-4667-5p	CLIP-seq
MIRT1338932	hsa-miR-4692	CLIP-seq
MIRT1338977	hsa-miR-4700-5p	CLIP-seq
MIRT2100179	hsa-miR-133a	CLIP-seq
MIRT1338919	hsa-miR-3127-5p	CLIP-seq
MIRT1338920	hsa-miR-3192	CLIP-seq
MIRT1338921	hsa-miR-3199	CLIP-seq
MIRT2100180	hsa-miR-342-3p	CLIP-seq
MIRT1338924	hsa-miR-3918	CLIP-seq
MIRT1338962	hsa-miR-4269	CLIP-seq
MIRT1338925	hsa-miR-4314	CLIP-seq
MIRT1338929	hsa-miR-4514	CLIP-seq
MIRT1338931	hsa-miR-4646-5p	CLIP-seq
MIRT1338976	hsa-miR-4681	CLIP-seq
MIRT1338932	hsa-miR-4692	CLIP-seq
MIRT1338979	hsa-miR-4742-5p	CLIP-seq
MIRT1338933	hsa-miR-4747-5p	CLIP-seq
MIRT1338934	hsa-miR-493	CLIP-seq
MIRT2100181	hsa-miR-513a-5p	CLIP-seq
MIRT2100182	hsa-miR-552	CLIP-seq
MIRT1338982	hsa-miR-572	CLIP-seq
MIRT1338983	hsa-miR-602	CLIP-seq
MIRT2100183	hsa-miR-4667-3p	CLIP-seq
MIRT1338917	hsa-miR-122	CLIP-seq
MIRT1338939	hsa-miR-1253	CLIP-seq
MIRT1338941	hsa-miR-125a-3p	CLIP-seq
MIRT1338943	hsa-miR-1304	CLIP-seq
MIRT1338946	hsa-miR-200b	CLIP-seq
MIRT1338947	hsa-miR-200c	CLIP-seq
MIRT1338955	hsa-miR-3126-3p	CLIP-seq
MIRT1338919	hsa-miR-3127-5p	CLIP-seq
MIRT1338920	hsa-miR-3192	CLIP-seq
MIRT1338921	hsa-miR-3199	CLIP-seq
MIRT1338923	hsa-miR-3691-3p	CLIP-seq
MIRT1338924	hsa-miR-3918	CLIP-seq
MIRT1338962	hsa-miR-4269	CLIP-seq
MIRT1338925	hsa-miR-4314	CLIP-seq
MIRT1338927	hsa-miR-4436b-3p	CLIP-seq
MIRT1338928	hsa-miR-4452	CLIP-seq
MIRT1338929	hsa-miR-4514	CLIP-seq
MIRT1338930	hsa-miR-4641	CLIP-seq
MIRT1338931	hsa-miR-4646-5p	CLIP-seq
MIRT1338971	hsa-miR-4653-3p	CLIP-seq
MIRT1338975	hsa-miR-4667-5p	CLIP-seq
MIRT1338976	hsa-miR-4681	CLIP-seq
MIRT1338932	hsa-miR-4692	CLIP-seq
MIRT1338977	hsa-miR-4700-5p	CLIP-seq
MIRT1338979	hsa-miR-4742-5p	CLIP-seq
MIRT1338933	hsa-miR-4747-5p	CLIP-seq
MIRT1338934	hsa-miR-493	CLIP-seq
MIRT2100181	hsa-miR-513a-5p	CLIP-seq
MIRT2100182	hsa-miR-552	CLIP-seq
MIRT1338982	hsa-miR-572	CLIP-seq
MIRT1338983	hsa-miR-602	CLIP-seq
MIRT1338984	hsa-miR-619	CLIP-seq
MIRT1338985	hsa-miR-637	CLIP-seq
MIRT1338917	hsa-miR-122	CLIP-seq
MIRT1338975	hsa-miR-4667-5p	CLIP-seq
MIRT1338977	hsa-miR-4700-5p	CLIP-seq
MIRT1338935	hsa-miR-103a	CLIP-seq
MIRT1338936	hsa-miR-107	CLIP-seq
MIRT1338937	hsa-miR-1180	CLIP-seq
MIRT1338938	hsa-miR-1184	CLIP-seq
MIRT1338917	hsa-miR-122	CLIP-seq
MIRT2440168	hsa-miR-1237	CLIP-seq
MIRT2440169	hsa-miR-1248	CLIP-seq
MIRT1338939	hsa-miR-1253	CLIP-seq
MIRT1338940	hsa-miR-1254	CLIP-seq
MIRT1338941	hsa-miR-125a-3p	CLIP-seq
MIRT1338942	hsa-miR-1265	CLIP-seq
MIRT1338943	hsa-miR-1304	CLIP-seq
MIRT2100179	hsa-miR-133a	CLIP-seq
MIRT2440170	hsa-miR-1343	CLIP-seq
MIRT1338944	hsa-miR-188-3p	CLIP-seq
MIRT2440171	hsa-miR-1913	CLIP-seq
MIRT1338945	hsa-miR-1915	CLIP-seq
MIRT1338948	hsa-miR-24	CLIP-seq
MIRT1338949	hsa-miR-2681	CLIP-seq
MIRT1338953	hsa-miR-3065-3p	CLIP-seq
MIRT1338954	hsa-miR-3116	CLIP-seq
MIRT1338955	hsa-miR-3126-3p	CLIP-seq
MIRT1338919	hsa-miR-3127-5p	CLIP-seq
MIRT1338956	hsa-miR-3136-3p	CLIP-seq
MIRT1338920	hsa-miR-3192	CLIP-seq
MIRT1338921	hsa-miR-3199	CLIP-seq
MIRT2440172	hsa-miR-324-3p	CLIP-seq
MIRT2100180	hsa-miR-342-3p	CLIP-seq
MIRT1338959	hsa-miR-342-5p	CLIP-seq
MIRT2440173	hsa-miR-346	CLIP-seq
MIRT1338923	hsa-miR-3691-3p	CLIP-seq
MIRT1338961	hsa-miR-3692	CLIP-seq
MIRT1338924	hsa-miR-3918	CLIP-seq
MIRT1338963	hsa-miR-4281	CLIP-seq
MIRT2440174	hsa-miR-4286	CLIP-seq
MIRT2440175	hsa-miR-4300	CLIP-seq
MIRT1338964	hsa-miR-4310	CLIP-seq
MIRT1338925	hsa-miR-4314	CLIP-seq
MIRT1338927	hsa-miR-4436b-3p	CLIP-seq
MIRT1338966	hsa-miR-4437	CLIP-seq
MIRT2440176	hsa-miR-4448	CLIP-seq
MIRT1338928	hsa-miR-4452	CLIP-seq
MIRT1338968	hsa-miR-4491	CLIP-seq
MIRT1338969	hsa-miR-4497	CLIP-seq
MIRT1338929	hsa-miR-4514	CLIP-seq
MIRT1338930	hsa-miR-4641	CLIP-seq
MIRT1338931	hsa-miR-4646-5p	CLIP-seq
MIRT1338971	hsa-miR-4653-3p	CLIP-seq
MIRT1338972	hsa-miR-4657	CLIP-seq
MIRT1338973	hsa-miR-4664-3p	CLIP-seq
MIRT1338974	hsa-miR-4664-5p	CLIP-seq
MIRT2100183	hsa-miR-4667-3p	CLIP-seq
MIRT1338975	hsa-miR-4667-5p	CLIP-seq
MIRT1338932	hsa-miR-4692	CLIP-seq
MIRT1338977	hsa-miR-4700-5p	CLIP-seq
MIRT2440177	hsa-miR-4749-3p	CLIP-seq
MIRT1338980	hsa-miR-4764-5p	CLIP-seq
MIRT2100181	hsa-miR-513a-5p	CLIP-seq
MIRT2440178	hsa-miR-513c	CLIP-seq
MIRT2440179	hsa-miR-514b-5p	CLIP-seq
MIRT2440180	hsa-miR-526b	CLIP-seq
MIRT1338981	hsa-miR-550a	CLIP-seq
MIRT2100182	hsa-miR-552	CLIP-seq
MIRT1338984	hsa-miR-619	CLIP-seq
MIRT1338985	hsa-miR-637	CLIP-seq
MIRT1338987	hsa-miR-661	CLIP-seq
MIRT2440181	hsa-miR-920	CLIP-seq
MIRT1338939	hsa-miR-1253	CLIP-seq
MIRT1338941	hsa-miR-125a-3p	CLIP-seq
MIRT1338943	hsa-miR-1304	CLIP-seq
MIRT2100179	hsa-miR-133a	CLIP-seq
MIRT2620661	hsa-miR-1470	CLIP-seq
MIRT1338946	hsa-miR-200b	CLIP-seq
MIRT1338947	hsa-miR-200c	CLIP-seq
MIRT2620662	hsa-miR-3127-3p	CLIP-seq
MIRT1338919	hsa-miR-3127-5p	CLIP-seq
MIRT1338920	hsa-miR-3192	CLIP-seq
MIRT1338921	hsa-miR-3199	CLIP-seq
MIRT2100180	hsa-miR-342-3p	CLIP-seq
MIRT1338922	hsa-miR-3679-3p	CLIP-seq
MIRT1338924	hsa-miR-3918	CLIP-seq
MIRT1338925	hsa-miR-4314	CLIP-seq
MIRT1338927	hsa-miR-4436b-3p	CLIP-seq
MIRT1338929	hsa-miR-4514	CLIP-seq
MIRT1338931	hsa-miR-4646-5p	CLIP-seq
MIRT2100183	hsa-miR-4667-3p	CLIP-seq
MIRT1338932	hsa-miR-4692	CLIP-seq
MIRT2100181	hsa-miR-513a-5p	CLIP-seq
MIRT2100182	hsa-miR-552	CLIP-seq
MIRT1338984	hsa-miR-619	CLIP-seq
MIRT2620663	hsa-miR-642a	CLIP-seq
MIRT1338939	hsa-miR-1253	CLIP-seq
MIRT1338941	hsa-miR-125a-3p	CLIP-seq
MIRT1338943	hsa-miR-1304	CLIP-seq
MIRT2100179	hsa-miR-133a	CLIP-seq
MIRT2620661	hsa-miR-1470	CLIP-seq
MIRT1338944	hsa-miR-188-3p	CLIP-seq
MIRT1338946	hsa-miR-200b	CLIP-seq
MIRT1338947	hsa-miR-200c	CLIP-seq
MIRT2620662	hsa-miR-3127-3p	CLIP-seq
MIRT1338919	hsa-miR-3127-5p	CLIP-seq
MIRT1338956	hsa-miR-3136-3p	CLIP-seq
MIRT1338920	hsa-miR-3192	CLIP-seq
MIRT1338921	hsa-miR-3199	CLIP-seq
MIRT2100180	hsa-miR-342-3p	CLIP-seq
MIRT1338922	hsa-miR-3679-3p	CLIP-seq
MIRT1338924	hsa-miR-3918	CLIP-seq
MIRT1338925	hsa-miR-4314	CLIP-seq
MIRT1338927	hsa-miR-4436b-3p	CLIP-seq
MIRT1338929	hsa-miR-4514	CLIP-seq
MIRT1338931	hsa-miR-4646-5p	CLIP-seq
MIRT2100183	hsa-miR-4667-3p	CLIP-seq
MIRT1338932	hsa-miR-4692	CLIP-seq
MIRT2100181	hsa-miR-513a-5p	CLIP-seq
MIRT2100182	hsa-miR-552	CLIP-seq
MIRT1338984	hsa-miR-619	CLIP-seq
MIRT2620663	hsa-miR-642a	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003433	Process	Chondrocyte development involved in endochondral bone morphogenesis	IEA
GO:0003723	Function	RNA binding	HDA	22658674
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	IBA
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	IEA
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	TAS	1309665
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005518	Function	Collagen binding	IEA
GO:0005518	Function	Collagen binding	NAS	1309665, 7656593
GO:0005615	Component	Extracellular space	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	NAS	7656593
GO:0005783	Component	Endoplasmic reticulum	TAS	1309665, 7656593
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005793	Component	Endoplasmic reticulum-Golgi intermediate compartment	IDA	15308636
GO:0006986	Process	Response to unfolded protein	TAS	1309665, 10023073
GO:0030199	Process	Collagen fibril organization	IBA
GO:0030199	Process	Collagen fibril organization	IEA
GO:0031012	Component	Extracellular matrix	HDA	28327460
GO:0031012	Component	Extracellular matrix	HDA	25037231, 28675934
GO:0032964	Process	Collagen biosynthetic process	IEA
GO:0045121	Component	Membrane raft	IDA	25204797
GO:0051082	Function	Unfolded protein binding	IEA
GO:0051604	Process	Protein maturation	IEA

Other IDs

• MIM: 600943
• HGNC: 1546
• e!Ensembl: ENSG00000149257

Protein

• UniProt ID: P50454
• Protein name: Serpin H1 (47 kDa heat shock protein) (Arsenic-transactivated protein 3) (AsTP3) (Cell proliferation-inducing gene 14 protein) (Collagen-binding protein) (Colligin) (Rheumatoid arthritis-related antigen RA-A47)
• Protein function: Binds specifically to collagen. Could be involved as a chaperone in the biosynthetic pathway of collagen.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00079	Serpin	45 → 409	Serpin (serine protease inhibitor)	Domain

• Sequence:

  MRSLLLLSAFCLLEAALAAEVKKPAAAAAPGTAEKLSPKAATLAERSAGLAFSLYQAMAK
  DQAVENILVSPVVVASSLGLVSLGGKATTASQAKAVLSAEQLRDEEVHAGLGELLRSLSN
  STARNVTWKLGSRLYGPSSVSFADDFVRSSKQHYNCEHSKINFRDKRSALQSINEWAAQT
  TDGKLPEVTKDVERTDGALLVNAMFFKPHWDEKFHHKMVDNRGFMVTRSYTVGVMMMHRT
  GLYNYYDDEKEKLQIVEMPLAHKLSSLIILMPHHVEPLERLEKLLTKEQLKIWMGKMQKK
  AVAISLPKGVVEVTHDLQKHLAGLGLTEAIDKNKADLSRMSGKKDLYLASVFHATAFELD
  TDGNPFDQDIYGREELRSPKLFYADHPFIFLVRDTQSGSLLFIGRLVRPKGDKMRDEL

• Sequence length: 418

Pathways

Reactome:

Collagen biosynthesis and modifying enzymes

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
Osteogenesis imperfecta type 10	Pathogenic	rs137853892, rs1565244847	RCV000023052 RCV000779627	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Preterm premature rupture of membranes	Pathogenic	rs77592601	RCV000009196	★★★★☆ 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
BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ATHEROSCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis imperfecta	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
OSTEOGENESIS IMPERFECTA TYPE 3	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA TYPE III	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis Imperfecta, Recessive	Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA, TYPE X	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SERPINH1-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	18499731		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	11242520, 11708768, 1520534, 19134004, 2078412, 2677406, 8261424		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	18378158	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	30055667		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	LHGDN	12659832, 15389525		★☆☆☆☆ Found in Text Mining only
Blister	Blister	Pubtator	36315987	Associate	★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom Syndrome	BEFREE	29035148		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	30986427		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	30986427	Associate	★☆☆☆☆ Found in Text Mining only
Bone Marrow Diseases	Bone Marrow Diseases	BEFREE	1537894, 7904619		★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	18378158	Associate	★☆☆☆☆ Found in Text Mining only
Brain Injuries Diffuse	Brain injuries	Pubtator	23435730	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	25744716		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	36104825	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	12174873, 24595468		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	30637779, 37181808, 38420809	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	27488440		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	29239102, 35876041	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	19176476, 24141696, 40705756	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	20129768		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	30158363		★☆☆☆☆ Found in Text Mining only
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	24141696		★☆☆☆☆ Found in Text Mining only
Chronic lung disease	Lung Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic sinusitis	Sinusitis	BEFREE	31664133		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	19603022	Stimulate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	27925182		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	19603022	Stimulate	★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective Tissue Disease	BEFREE	30541925		★☆☆☆☆ Found in Text Mining only
Contracture	Contracture	Pubtator	22949511	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	29239102		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	10725279		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	GWASDB_DG	23202125		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	GWASCAT_DG	29212778		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cortical cataract	Cortical cataract	BEFREE	25111595		★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	31664133		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	35768471	Associate	★☆☆☆☆ Found in Text Mining only
Dentinogenesis Imperfecta	Dentinogenesis Imperfecta	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dry Eye Syndromes	Dry Eye Syndromes	BEFREE	30940635		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endocarditis	Endocarditis	BEFREE	14663100, 18715765		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	30239732		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	38055382, 39905485	Associate	★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	23587601, 28802097, 29148802, 29438711, 30092114, 31047894		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	CTD_human_DG	24321339		★☆☆☆☆ Found in Text Mining only
Gastritis Atrophic	Gastritis	Pubtator	37868053	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma Angle Closure	Angle closure glaucoma	Pubtator	36315987	Stimulate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	27696866		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	36397358	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	27696866		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	17360931, 19067716, 25758142	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	19067716, 24595468, 25758142		★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	30940635		★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	25111595		★☆☆☆☆ Found in Text Mining only
Hereditary gingival fibromatosis	Hereditary Gingival Fibromatosis	BEFREE	10757112, 12710748, 23229240, 29989318		★☆☆☆☆ Found in Text Mining only
Hydranencephaly	Hydranencephaly	BEFREE	27677223		★☆☆☆☆ Found in Text Mining only
Hydranencephaly	Hydranencephaly	Pubtator	27677223	Associate	★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	BEFREE	19134004		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	15955241, 20129768, 23435730	Stimulate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	27488440, 31332587		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	39796239	Associate	★☆☆☆☆ Found in Text Mining only
Infarction, Middle Cerebral Artery	Cerebral Infraction	CTD_human_DG	12374626		★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	1353704		★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	Pubtator	30029277	Associate	★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	39302398	Associate	★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	28849239		★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	1520534, 8261424		★☆☆☆☆ Found in Text Mining only
Leukomalacia, Periventricular	Periventricular Leukomalacia	BEFREE	27627792		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30637779, 31258024		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	CTD_human_DG	24321339		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Cirrhosis	Liver cirrhosis	Pubtator	34929150	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Diseases Alcoholic	Liver disease	Pubtator	34929150	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	15955241	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	32928242	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	32091407	Stimulate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	25744716		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	27488440		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	20043075, 24595468		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10842320, 25744716, 30128672, 30986427, 31570520		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	36901697	Associate	★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micromelia	Micromelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Middle Cerebral Artery Thrombosis	Cerebral Thrombosis	CTD_human_DG	12374626		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	31664133		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12109856, 15231663, 18176343, 24595468, 25744716, 25758142, 27696866, 27925182, 30128672, 30139933		★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	2200942		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	15231663, 18499731		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	18499731	Associate	★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	30055667		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	34248836	Associate	★☆☆☆☆ Found in Text Mining only
Ocular Cicatricial Pemphigoid	Ocular Cicatricial Pemphigoid	BEFREE	12657600, 12882790		★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta	Osteogenesis Imperfecta	BEFREE	19629171, 20188343, 20839288, 21567925, 21667357, 24022296, 25007323, 25510505, 26692483, 27677223, 27706701, 27838364, 29520608, 31179625, 9602714		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Osteogenesis Imperfecta	Osteogenesis imperfecta	Pubtator	20188343, 20839288, 21829228, 25510505, 27677223, 27706701, 33524049	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Osteogenesis imperfecta type 3	Osteogenesis Imperfecta	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis imperfecta type III (disorder)	Osteogenesis Imperfecta	GENOMICS_ENGLAND_DG	20188343		★☆☆☆☆ Found in Text Mining only
Osteogenesis imperfecta type III (disorder)	Osteogenesis Imperfecta	ORPHANET_DG	21438135		★☆☆☆☆ Found in Text Mining only
OSTEOGENESIS IMPERFECTA, TYPE X	Osteogenesis Imperfecta	UNIPROT_DG	20188343		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA, TYPE X	Osteogenesis Imperfecta	GENOMICS_ENGLAND_DG	20188343		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA, TYPE X	Osteogenesis Imperfecta	BEFREE	29520608		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA, TYPE X	Osteogenesis Imperfecta	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA, TYPE X	Osteogenesis Imperfecta	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopenia	Osteopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	32999266	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	12109856		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	36415513	Associate	★☆☆☆☆ Found in Text Mining only
Paraparesis Tropical Spastic	Tropical spastic paraparesis	Pubtator	23510700, 25830656	Associate	★☆☆☆☆ Found in Text Mining only
Pemphigoid, Benign Mucous Membrane	Mucous membrane pemphigoid	BEFREE	12061838		★☆☆☆☆ Found in Text Mining only
Pemphigoid, Benign Mucous Membrane	Mucous membrane pemphigoid	LHGDN	12061838		★☆☆☆☆ Found in Text Mining only
Peritoneal Fibrosis	Peritoneal fibrosis	Pubtator	10652040	Associate	★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	10652040	Associate	★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	18499731		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	22694981, 29035148		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary fibrosis	Pubtator	32747092	Associate	★☆☆☆☆ Found in Text Mining only
Relative macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	CTD_human_DG	25070658		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	15389525, 9588174		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	15389525		★☆☆☆☆ Found in Text Mining only
Scleroderma	Scleroderma	BEFREE	26091621		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	12061838, 26091621		★☆☆☆☆ Found in Text Mining only
Spinal Cord Diseases	Spinal Cord Diseases	BEFREE	1537894, 7904619		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	20112500, 25953518		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	18176343		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	20043075, 24595468		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	29921304, 32091407, 32293980, 36104825, 37868053	Associate	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	30158363	Associate	★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	26091621, 9856811		★☆☆☆☆ Found in Text Mining only
Tooth Abnormalities	Tooth abnormalities	Pubtator	23229240	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	24141696	Stimulate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	40705756	Associate	★☆☆☆☆ Found in Text Mining only