CTSD (cathepsin D)

Gene

• Entrez ID: 1509
• Gene name: Cathepsin D
• Gene symbol: CTSD
• Synonyms (NCBI Gene): CLN10, CPSD, HEL-S-130P
• Chromosome: 11
• Chromosome location: 11p15.5
• Summary: This gene encodes a member of the A1 family of peptidases. The encoded preproprotein is proteolytically processed to generate multiple protein products. These products include the cathepsin D light and heavy chains, which heterodimerize to form the mature

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121912789	A>T	Pathogenic	Coding sequence variant, missense variant
rs121912790	C>G	Pathogenic	Coding sequence variant, missense variant
rs140238987	C>A,G,T	Likely-benign, conflicting-interpretations-of-pathogenicity, benign, uncertain-significance	Coding sequence variant, synonymous variant
rs140563067	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs147800688	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs535140505	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant
rs587779409	G>A	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs730882208	->TGAAGACGTCGCCCA	Likely-pathogenic	Coding sequence variant, inframe insertion
rs746243061	G>A,C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs752612332	->G	Pathogenic	Frameshift variant, coding sequence variant
rs763407972	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs779278368	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs786205105	->T	Pathogenic	Stop gained, coding sequence variant
rs796052400	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs796052407	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs797045137	C>A	Pathogenic	Missense variant, coding sequence variant
rs797045138	C>T	Pathogenic	Missense variant, coding sequence variant
rs1021613206	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs1057519591	AGA>-	Likely-pathogenic	Inframe deletion, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018513	hsa-miR-335-5p	Microarray	18185580
MIRT029858	hsa-miR-26b-5p	Microarray	19088304
MIRT051277	hsa-miR-16-5p	CLASH	23622248
MIRT042779	hsa-miR-339-5p	CLASH	23622248
MIRT042362	hsa-miR-484	CLASH	23622248
MIRT041114	hsa-miR-503-5p	CLASH	23622248
MIRT734983	hsa-miR-24-3p	Western blotting, Microarray	33964876
MIRT915794	hsa-miR-103a	CLIP-seq
MIRT915795	hsa-miR-107	CLIP-seq
MIRT915796	hsa-miR-1207-3p	CLIP-seq
MIRT915797	hsa-miR-1207-5p	CLIP-seq
MIRT915798	hsa-miR-1224-3p	CLIP-seq
MIRT915799	hsa-miR-1226	CLIP-seq
MIRT915800	hsa-miR-1262	CLIP-seq
MIRT915801	hsa-miR-1285	CLIP-seq
MIRT915802	hsa-miR-1293	CLIP-seq
MIRT915803	hsa-miR-1296	CLIP-seq
MIRT915804	hsa-miR-1321	CLIP-seq
MIRT915805	hsa-miR-1324	CLIP-seq
MIRT915806	hsa-miR-140-3p	CLIP-seq
MIRT915807	hsa-miR-147	CLIP-seq
MIRT915808	hsa-miR-1538	CLIP-seq
MIRT915809	hsa-miR-185	CLIP-seq
MIRT915810	hsa-miR-1915	CLIP-seq
MIRT915811	hsa-miR-193a-5p	CLIP-seq
MIRT915812	hsa-miR-1972	CLIP-seq
MIRT915813	hsa-miR-1976	CLIP-seq
MIRT915814	hsa-miR-2115	CLIP-seq
MIRT915815	hsa-miR-24	CLIP-seq
MIRT915816	hsa-miR-2467-3p	CLIP-seq
MIRT915817	hsa-miR-296-5p	CLIP-seq
MIRT915818	hsa-miR-3120-3p	CLIP-seq
MIRT915819	hsa-miR-3125	CLIP-seq
MIRT915820	hsa-miR-3136-3p	CLIP-seq
MIRT915821	hsa-miR-3158-5p	CLIP-seq
MIRT915822	hsa-miR-3184	CLIP-seq
MIRT915823	hsa-miR-3187-5p	CLIP-seq
MIRT915824	hsa-miR-3192	CLIP-seq
MIRT915825	hsa-miR-3194-3p	CLIP-seq
MIRT915826	hsa-miR-3199	CLIP-seq
MIRT915827	hsa-miR-320e	CLIP-seq
MIRT915828	hsa-miR-323b-3p	CLIP-seq
MIRT915829	hsa-miR-326	CLIP-seq
MIRT915830	hsa-miR-330-5p	CLIP-seq
MIRT915831	hsa-miR-331-3p	CLIP-seq
MIRT915832	hsa-miR-3650	CLIP-seq
MIRT915833	hsa-miR-3678-3p	CLIP-seq
MIRT915834	hsa-miR-3689a-3p	CLIP-seq
MIRT915835	hsa-miR-3689c	CLIP-seq
MIRT915836	hsa-miR-370	CLIP-seq
MIRT915837	hsa-miR-3911	CLIP-seq
MIRT915838	hsa-miR-3916	CLIP-seq
MIRT915839	hsa-miR-3943	CLIP-seq
MIRT915840	hsa-miR-3944-3p	CLIP-seq
MIRT915841	hsa-miR-423-5p	CLIP-seq
MIRT915842	hsa-miR-4257	CLIP-seq
MIRT915843	hsa-miR-4269	CLIP-seq
MIRT915844	hsa-miR-4270	CLIP-seq
MIRT915845	hsa-miR-4279	CLIP-seq
MIRT915846	hsa-miR-4283	CLIP-seq
MIRT915847	hsa-miR-4292	CLIP-seq
MIRT915848	hsa-miR-4306	CLIP-seq
MIRT915849	hsa-miR-4310	CLIP-seq
MIRT915850	hsa-miR-4314	CLIP-seq
MIRT915851	hsa-miR-4436b-3p	CLIP-seq
MIRT915852	hsa-miR-4437	CLIP-seq
MIRT915853	hsa-miR-4441	CLIP-seq
MIRT915854	hsa-miR-4453	CLIP-seq
MIRT915855	hsa-miR-4476	CLIP-seq
MIRT915856	hsa-miR-4480	CLIP-seq
MIRT915857	hsa-miR-4483	CLIP-seq
MIRT915858	hsa-miR-4489	CLIP-seq
MIRT915859	hsa-miR-4512	CLIP-seq
MIRT915860	hsa-miR-4514	CLIP-seq
MIRT915861	hsa-miR-4538	CLIP-seq
MIRT915862	hsa-miR-4539	CLIP-seq
MIRT915863	hsa-miR-4632	CLIP-seq
MIRT915864	hsa-miR-4638-5p	CLIP-seq
MIRT915865	hsa-miR-4640-5p	CLIP-seq
MIRT915866	hsa-miR-4644	CLIP-seq
MIRT915867	hsa-miR-4645-5p	CLIP-seq
MIRT915868	hsa-miR-4646-5p	CLIP-seq
MIRT915869	hsa-miR-4648	CLIP-seq
MIRT915870	hsa-miR-4652-3p	CLIP-seq
MIRT915871	hsa-miR-4654	CLIP-seq
MIRT915872	hsa-miR-4668-5p	CLIP-seq
MIRT915873	hsa-miR-4673	CLIP-seq
MIRT915874	hsa-miR-4685-5p	CLIP-seq
MIRT915875	hsa-miR-4688	CLIP-seq
MIRT915876	hsa-miR-4690-3p	CLIP-seq
MIRT915877	hsa-miR-4692	CLIP-seq
MIRT915878	hsa-miR-4701-3p	CLIP-seq
MIRT915879	hsa-miR-4716-5p	CLIP-seq
MIRT915880	hsa-miR-4724-5p	CLIP-seq
MIRT915881	hsa-miR-4726-5p	CLIP-seq
MIRT915882	hsa-miR-4728-5p	CLIP-seq
MIRT915883	hsa-miR-4731-5p	CLIP-seq
MIRT915884	hsa-miR-4733-5p	CLIP-seq
MIRT915885	hsa-miR-4739	CLIP-seq
MIRT915886	hsa-miR-4742-3p	CLIP-seq
MIRT915887	hsa-miR-4742-5p	CLIP-seq
MIRT915888	hsa-miR-4745-3p	CLIP-seq
MIRT915889	hsa-miR-4749-3p	CLIP-seq
MIRT915890	hsa-miR-4756-5p	CLIP-seq
MIRT915891	hsa-miR-4762-3p	CLIP-seq
MIRT915892	hsa-miR-4763-3p	CLIP-seq
MIRT915893	hsa-miR-4767	CLIP-seq
MIRT915894	hsa-miR-4769-5p	CLIP-seq
MIRT915895	hsa-miR-4793-5p	CLIP-seq
MIRT915896	hsa-miR-548aa	CLIP-seq
MIRT915897	hsa-miR-587	CLIP-seq
MIRT915898	hsa-miR-612	CLIP-seq
MIRT915899	hsa-miR-615-5p	CLIP-seq
MIRT915900	hsa-miR-635	CLIP-seq
MIRT915901	hsa-miR-644	CLIP-seq
MIRT915902	hsa-miR-940	CLIP-seq
MIRT915903	hsa-miR-95	CLIP-seq
MIRT915813	hsa-miR-1976	CLIP-seq
MIRT915816	hsa-miR-2467-3p	CLIP-seq
MIRT915822	hsa-miR-3184	CLIP-seq
MIRT915834	hsa-miR-3689a-3p	CLIP-seq
MIRT915835	hsa-miR-3689c	CLIP-seq
MIRT915836	hsa-miR-370	CLIP-seq
MIRT915841	hsa-miR-423-5p	CLIP-seq
MIRT915854	hsa-miR-4453	CLIP-seq
MIRT915856	hsa-miR-4480	CLIP-seq
MIRT915860	hsa-miR-4514	CLIP-seq
MIRT915861	hsa-miR-4538	CLIP-seq
MIRT915865	hsa-miR-4640-5p	CLIP-seq
MIRT915869	hsa-miR-4648	CLIP-seq
MIRT915871	hsa-miR-4654	CLIP-seq
MIRT915877	hsa-miR-4692	CLIP-seq
MIRT915881	hsa-miR-4726-5p	CLIP-seq
MIRT915882	hsa-miR-4728-5p	CLIP-seq
MIRT915894	hsa-miR-4769-5p	CLIP-seq
MIRT915902	hsa-miR-940	CLIP-seq
MIRT915794	hsa-miR-103a	CLIP-seq
MIRT915795	hsa-miR-107	CLIP-seq
MIRT915796	hsa-miR-1207-3p	CLIP-seq
MIRT915797	hsa-miR-1207-5p	CLIP-seq
MIRT915798	hsa-miR-1224-3p	CLIP-seq
MIRT915799	hsa-miR-1226	CLIP-seq
MIRT915800	hsa-miR-1262	CLIP-seq
MIRT1971604	hsa-miR-1270	CLIP-seq
MIRT915801	hsa-miR-1285	CLIP-seq
MIRT915802	hsa-miR-1293	CLIP-seq
MIRT915803	hsa-miR-1296	CLIP-seq
MIRT915804	hsa-miR-1321	CLIP-seq
MIRT915805	hsa-miR-1324	CLIP-seq
MIRT915806	hsa-miR-140-3p	CLIP-seq
MIRT1971605	hsa-miR-143	CLIP-seq
MIRT915807	hsa-miR-147	CLIP-seq
MIRT915809	hsa-miR-185	CLIP-seq
MIRT915810	hsa-miR-1915	CLIP-seq
MIRT915811	hsa-miR-193a-5p	CLIP-seq
MIRT915812	hsa-miR-1972	CLIP-seq
MIRT915813	hsa-miR-1976	CLIP-seq
MIRT915814	hsa-miR-2115	CLIP-seq
MIRT915815	hsa-miR-24	CLIP-seq
MIRT915816	hsa-miR-2467-3p	CLIP-seq
MIRT915817	hsa-miR-296-5p	CLIP-seq
MIRT915818	hsa-miR-3120-3p	CLIP-seq
MIRT915820	hsa-miR-3136-3p	CLIP-seq
MIRT1971606	hsa-miR-3151	CLIP-seq
MIRT1971607	hsa-miR-3179	CLIP-seq
MIRT915822	hsa-miR-3184	CLIP-seq
MIRT915823	hsa-miR-3187-5p	CLIP-seq
MIRT915824	hsa-miR-3192	CLIP-seq
MIRT915825	hsa-miR-3194-3p	CLIP-seq
MIRT915826	hsa-miR-3199	CLIP-seq
MIRT915827	hsa-miR-320e	CLIP-seq
MIRT915828	hsa-miR-323b-3p	CLIP-seq
MIRT915829	hsa-miR-326	CLIP-seq
MIRT915830	hsa-miR-330-5p	CLIP-seq
MIRT915834	hsa-miR-3689a-3p	CLIP-seq
MIRT915835	hsa-miR-3689c	CLIP-seq
MIRT915836	hsa-miR-370	CLIP-seq
MIRT915837	hsa-miR-3911	CLIP-seq
MIRT915839	hsa-miR-3943	CLIP-seq
MIRT915840	hsa-miR-3944-3p	CLIP-seq
MIRT915841	hsa-miR-423-5p	CLIP-seq
MIRT1971608	hsa-miR-4254	CLIP-seq
MIRT915843	hsa-miR-4269	CLIP-seq
MIRT915844	hsa-miR-4270	CLIP-seq
MIRT915845	hsa-miR-4279	CLIP-seq
MIRT915846	hsa-miR-4283	CLIP-seq
MIRT915847	hsa-miR-4292	CLIP-seq
MIRT915848	hsa-miR-4306	CLIP-seq
MIRT1971609	hsa-miR-4308	CLIP-seq
MIRT915849	hsa-miR-4310	CLIP-seq
MIRT915850	hsa-miR-4314	CLIP-seq
MIRT1971610	hsa-miR-4436a	CLIP-seq
MIRT915851	hsa-miR-4436b-3p	CLIP-seq
MIRT915852	hsa-miR-4437	CLIP-seq
MIRT915853	hsa-miR-4441	CLIP-seq
MIRT1971611	hsa-miR-4447	CLIP-seq
MIRT915854	hsa-miR-4453	CLIP-seq
MIRT1971612	hsa-miR-4472	CLIP-seq
MIRT915856	hsa-miR-4480	CLIP-seq
MIRT915857	hsa-miR-4483	CLIP-seq
MIRT915859	hsa-miR-4512	CLIP-seq
MIRT915860	hsa-miR-4514	CLIP-seq
MIRT1971613	hsa-miR-4534	CLIP-seq
MIRT915861	hsa-miR-4538	CLIP-seq
MIRT915862	hsa-miR-4539	CLIP-seq
MIRT1971614	hsa-miR-4634	CLIP-seq
MIRT915864	hsa-miR-4638-5p	CLIP-seq
MIRT1971615	hsa-miR-4640-3p	CLIP-seq
MIRT915865	hsa-miR-4640-5p	CLIP-seq
MIRT915866	hsa-miR-4644	CLIP-seq
MIRT915867	hsa-miR-4645-5p	CLIP-seq
MIRT915868	hsa-miR-4646-5p	CLIP-seq
MIRT915869	hsa-miR-4648	CLIP-seq
MIRT915870	hsa-miR-4652-3p	CLIP-seq
MIRT1971616	hsa-miR-4652-5p	CLIP-seq
MIRT915871	hsa-miR-4654	CLIP-seq
MIRT915872	hsa-miR-4668-5p	CLIP-seq
MIRT915873	hsa-miR-4673	CLIP-seq
MIRT1971617	hsa-miR-4683	CLIP-seq
MIRT915874	hsa-miR-4685-5p	CLIP-seq
MIRT915875	hsa-miR-4688	CLIP-seq
MIRT915876	hsa-miR-4690-3p	CLIP-seq
MIRT915877	hsa-miR-4692	CLIP-seq
MIRT915878	hsa-miR-4701-3p	CLIP-seq
MIRT915881	hsa-miR-4726-5p	CLIP-seq
MIRT915882	hsa-miR-4728-5p	CLIP-seq
MIRT915884	hsa-miR-4733-5p	CLIP-seq
MIRT1971618	hsa-miR-4736	CLIP-seq
MIRT915885	hsa-miR-4739	CLIP-seq
MIRT915887	hsa-miR-4742-5p	CLIP-seq
MIRT915890	hsa-miR-4756-5p	CLIP-seq
MIRT915891	hsa-miR-4762-3p	CLIP-seq
MIRT915892	hsa-miR-4763-3p	CLIP-seq
MIRT915893	hsa-miR-4767	CLIP-seq
MIRT915894	hsa-miR-4769-5p	CLIP-seq
MIRT1971619	hsa-miR-4770	CLIP-seq
MIRT1971620	hsa-miR-4782-5p	CLIP-seq
MIRT1971621	hsa-miR-491-5p	CLIP-seq
MIRT915896	hsa-miR-548aa	CLIP-seq
MIRT915898	hsa-miR-612	CLIP-seq
MIRT915899	hsa-miR-615-5p	CLIP-seq
MIRT1971622	hsa-miR-620	CLIP-seq
MIRT915900	hsa-miR-635	CLIP-seq
MIRT915901	hsa-miR-644	CLIP-seq
MIRT1971623	hsa-miR-657	CLIP-seq
MIRT915902	hsa-miR-940	CLIP-seq
MIRT2207325	hsa-miR-1205	CLIP-seq
MIRT915796	hsa-miR-1207-3p	CLIP-seq
MIRT915797	hsa-miR-1207-5p	CLIP-seq
MIRT915798	hsa-miR-1224-3p	CLIP-seq
MIRT915799	hsa-miR-1226	CLIP-seq
MIRT915801	hsa-miR-1285	CLIP-seq
MIRT915804	hsa-miR-1321	CLIP-seq
MIRT915805	hsa-miR-1324	CLIP-seq
MIRT915806	hsa-miR-140-3p	CLIP-seq
MIRT915807	hsa-miR-147	CLIP-seq
MIRT915808	hsa-miR-1538	CLIP-seq
MIRT915809	hsa-miR-185	CLIP-seq
MIRT915810	hsa-miR-1915	CLIP-seq
MIRT915812	hsa-miR-1972	CLIP-seq
MIRT915815	hsa-miR-24	CLIP-seq
MIRT915816	hsa-miR-2467-3p	CLIP-seq
MIRT915817	hsa-miR-296-5p	CLIP-seq
MIRT915820	hsa-miR-3136-3p	CLIP-seq
MIRT2207326	hsa-miR-3155	CLIP-seq
MIRT2207327	hsa-miR-3155b	CLIP-seq
MIRT915822	hsa-miR-3184	CLIP-seq
MIRT915823	hsa-miR-3187-5p	CLIP-seq
MIRT915826	hsa-miR-3199	CLIP-seq
MIRT915827	hsa-miR-320e	CLIP-seq
MIRT915828	hsa-miR-323b-3p	CLIP-seq
MIRT2207328	hsa-miR-3620	CLIP-seq
MIRT915832	hsa-miR-3650	CLIP-seq
MIRT915837	hsa-miR-3911	CLIP-seq
MIRT915839	hsa-miR-3943	CLIP-seq
MIRT915841	hsa-miR-423-5p	CLIP-seq
MIRT915843	hsa-miR-4269	CLIP-seq
MIRT915844	hsa-miR-4270	CLIP-seq
MIRT915848	hsa-miR-4306	CLIP-seq
MIRT1971610	hsa-miR-4436a	CLIP-seq
MIRT915851	hsa-miR-4436b-3p	CLIP-seq
MIRT915853	hsa-miR-4441	CLIP-seq
MIRT2207329	hsa-miR-4455	CLIP-seq
MIRT915860	hsa-miR-4514	CLIP-seq
MIRT1971613	hsa-miR-4534	CLIP-seq
MIRT915866	hsa-miR-4644	CLIP-seq
MIRT915867	hsa-miR-4645-5p	CLIP-seq
MIRT915869	hsa-miR-4648	CLIP-seq
MIRT2207330	hsa-miR-4649-5p	CLIP-seq
MIRT915871	hsa-miR-4654	CLIP-seq
MIRT915872	hsa-miR-4668-5p	CLIP-seq
MIRT915873	hsa-miR-4673	CLIP-seq
MIRT915874	hsa-miR-4685-5p	CLIP-seq
MIRT915877	hsa-miR-4692	CLIP-seq
MIRT915880	hsa-miR-4724-5p	CLIP-seq
MIRT915882	hsa-miR-4728-5p	CLIP-seq
MIRT915884	hsa-miR-4733-5p	CLIP-seq
MIRT1971618	hsa-miR-4736	CLIP-seq
MIRT915885	hsa-miR-4739	CLIP-seq
MIRT915887	hsa-miR-4742-5p	CLIP-seq
MIRT915888	hsa-miR-4745-3p	CLIP-seq
MIRT915890	hsa-miR-4756-5p	CLIP-seq
MIRT2207331	hsa-miR-4761-5p	CLIP-seq
MIRT915892	hsa-miR-4763-3p	CLIP-seq
MIRT915893	hsa-miR-4767	CLIP-seq
MIRT915894	hsa-miR-4769-5p	CLIP-seq
MIRT915896	hsa-miR-548aa	CLIP-seq
MIRT2207332	hsa-miR-574-5p	CLIP-seq
MIRT2207333	hsa-miR-609	CLIP-seq
MIRT915898	hsa-miR-612	CLIP-seq
MIRT2207334	hsa-miR-624	CLIP-seq
MIRT915901	hsa-miR-644	CLIP-seq
MIRT1971623	hsa-miR-657	CLIP-seq
MIRT915902	hsa-miR-940	CLIP-seq
MIRT915903	hsa-miR-95	CLIP-seq
MIRT915796	hsa-miR-1207-3p	CLIP-seq
MIRT915797	hsa-miR-1207-5p	CLIP-seq
MIRT915804	hsa-miR-1321	CLIP-seq
MIRT915816	hsa-miR-2467-3p	CLIP-seq
MIRT915843	hsa-miR-4269	CLIP-seq
MIRT915851	hsa-miR-4436b-3p	CLIP-seq
MIRT915860	hsa-miR-4514	CLIP-seq
MIRT915877	hsa-miR-4692	CLIP-seq
MIRT915882	hsa-miR-4728-5p	CLIP-seq
MIRT915885	hsa-miR-4739	CLIP-seq
MIRT915887	hsa-miR-4742-5p	CLIP-seq
MIRT915890	hsa-miR-4756-5p	CLIP-seq
MIRT915892	hsa-miR-4763-3p	CLIP-seq
MIRT915902	hsa-miR-940	CLIP-seq
MIRT915794	hsa-miR-103a	CLIP-seq
MIRT915795	hsa-miR-107	CLIP-seq
MIRT2207325	hsa-miR-1205	CLIP-seq
MIRT915798	hsa-miR-1224-3p	CLIP-seq
MIRT915799	hsa-miR-1226	CLIP-seq
MIRT2436497	hsa-miR-1251	CLIP-seq
MIRT915804	hsa-miR-1321	CLIP-seq
MIRT915806	hsa-miR-140-3p	CLIP-seq
MIRT2436498	hsa-miR-1910	CLIP-seq
MIRT915810	hsa-miR-1915	CLIP-seq
MIRT915812	hsa-miR-1972	CLIP-seq
MIRT2436499	hsa-miR-2355-3p	CLIP-seq
MIRT915815	hsa-miR-24	CLIP-seq
MIRT2436500	hsa-miR-29a	CLIP-seq
MIRT2436501	hsa-miR-29b	CLIP-seq
MIRT2436502	hsa-miR-29c	CLIP-seq
MIRT2436503	hsa-miR-3065-3p	CLIP-seq
MIRT915818	hsa-miR-3120-3p	CLIP-seq
MIRT2207326	hsa-miR-3155	CLIP-seq
MIRT2207327	hsa-miR-3155b	CLIP-seq
MIRT915828	hsa-miR-323b-3p	CLIP-seq
MIRT2207328	hsa-miR-3620	CLIP-seq
MIRT2436504	hsa-miR-3667-3p	CLIP-seq
MIRT915839	hsa-miR-3943	CLIP-seq
MIRT915840	hsa-miR-3944-3p	CLIP-seq
MIRT2436505	hsa-miR-4264	CLIP-seq
MIRT2436506	hsa-miR-4267	CLIP-seq
MIRT915844	hsa-miR-4270	CLIP-seq
MIRT2436507	hsa-miR-4284	CLIP-seq
MIRT915849	hsa-miR-4310	CLIP-seq
MIRT915853	hsa-miR-4441	CLIP-seq
MIRT915860	hsa-miR-4514	CLIP-seq
MIRT915862	hsa-miR-4539	CLIP-seq
MIRT2436508	hsa-miR-455-3p	CLIP-seq
MIRT915867	hsa-miR-4645-5p	CLIP-seq
MIRT2436509	hsa-miR-4646-3p	CLIP-seq
MIRT2436510	hsa-miR-4650-5p	CLIP-seq
MIRT915872	hsa-miR-4668-5p	CLIP-seq
MIRT915873	hsa-miR-4673	CLIP-seq
MIRT915877	hsa-miR-4692	CLIP-seq
MIRT915882	hsa-miR-4728-5p	CLIP-seq
MIRT915884	hsa-miR-4733-5p	CLIP-seq
MIRT915885	hsa-miR-4739	CLIP-seq
MIRT915890	hsa-miR-4756-5p	CLIP-seq
MIRT2436511	hsa-miR-4757-5p	CLIP-seq
MIRT2207331	hsa-miR-4761-5p	CLIP-seq
MIRT915891	hsa-miR-4762-3p	CLIP-seq
MIRT915895	hsa-miR-4793-5p	CLIP-seq
MIRT2436512	hsa-miR-483-3p	CLIP-seq
MIRT915896	hsa-miR-548aa	CLIP-seq
MIRT2207334	hsa-miR-624	CLIP-seq
MIRT2436513	hsa-miR-629	CLIP-seq
MIRT915900	hsa-miR-635	CLIP-seq
MIRT915902	hsa-miR-940	CLIP-seq
MIRT915798	hsa-miR-1224-3p	CLIP-seq
MIRT915799	hsa-miR-1226	CLIP-seq
MIRT915812	hsa-miR-1972	CLIP-seq
MIRT915828	hsa-miR-323b-3p	CLIP-seq
MIRT915839	hsa-miR-3943	CLIP-seq
MIRT915860	hsa-miR-4514	CLIP-seq
MIRT915867	hsa-miR-4645-5p	CLIP-seq
MIRT915873	hsa-miR-4673	CLIP-seq
MIRT915877	hsa-miR-4692	CLIP-seq
MIRT915884	hsa-miR-4733-5p	CLIP-seq
MIRT915902	hsa-miR-940	CLIP-seq
MIRT915794	hsa-miR-103a	CLIP-seq
MIRT915795	hsa-miR-107	CLIP-seq
MIRT2207325	hsa-miR-1205	CLIP-seq
MIRT915796	hsa-miR-1207-3p	CLIP-seq
MIRT915797	hsa-miR-1207-5p	CLIP-seq
MIRT915798	hsa-miR-1224-3p	CLIP-seq
MIRT915799	hsa-miR-1226	CLIP-seq
MIRT2510450	hsa-miR-1234	CLIP-seq
MIRT2436497	hsa-miR-1251	CLIP-seq
MIRT915801	hsa-miR-1285	CLIP-seq
MIRT915804	hsa-miR-1321	CLIP-seq
MIRT915806	hsa-miR-140-3p	CLIP-seq
MIRT915807	hsa-miR-147	CLIP-seq
MIRT2510451	hsa-miR-149	CLIP-seq
MIRT915808	hsa-miR-1538	CLIP-seq
MIRT2436498	hsa-miR-1910	CLIP-seq
MIRT915810	hsa-miR-1915	CLIP-seq
MIRT915812	hsa-miR-1972	CLIP-seq
MIRT915814	hsa-miR-2115	CLIP-seq
MIRT2436499	hsa-miR-2355-3p	CLIP-seq
MIRT915815	hsa-miR-24	CLIP-seq
MIRT915816	hsa-miR-2467-3p	CLIP-seq
MIRT915817	hsa-miR-296-5p	CLIP-seq
MIRT2436500	hsa-miR-29a	CLIP-seq
MIRT2436501	hsa-miR-29b	CLIP-seq
MIRT2436502	hsa-miR-29c	CLIP-seq
MIRT2436503	hsa-miR-3065-3p	CLIP-seq
MIRT915818	hsa-miR-3120-3p	CLIP-seq
MIRT915820	hsa-miR-3136-3p	CLIP-seq
MIRT1971606	hsa-miR-3151	CLIP-seq
MIRT2207326	hsa-miR-3155	CLIP-seq
MIRT2207327	hsa-miR-3155b	CLIP-seq
MIRT915822	hsa-miR-3184	CLIP-seq
MIRT915823	hsa-miR-3187-5p	CLIP-seq
MIRT915826	hsa-miR-3199	CLIP-seq
MIRT915827	hsa-miR-320e	CLIP-seq
MIRT915828	hsa-miR-323b-3p	CLIP-seq
MIRT915831	hsa-miR-331-3p	CLIP-seq
MIRT2207328	hsa-miR-3620	CLIP-seq
MIRT915832	hsa-miR-3650	CLIP-seq
MIRT2436504	hsa-miR-3667-3p	CLIP-seq
MIRT915834	hsa-miR-3689a-3p	CLIP-seq
MIRT915835	hsa-miR-3689c	CLIP-seq
MIRT915837	hsa-miR-3911	CLIP-seq
MIRT915839	hsa-miR-3943	CLIP-seq
MIRT915840	hsa-miR-3944-3p	CLIP-seq
MIRT915841	hsa-miR-423-5p	CLIP-seq
MIRT2436505	hsa-miR-4264	CLIP-seq
MIRT2436506	hsa-miR-4267	CLIP-seq
MIRT915843	hsa-miR-4269	CLIP-seq
MIRT915844	hsa-miR-4270	CLIP-seq
MIRT915846	hsa-miR-4283	CLIP-seq
MIRT2436507	hsa-miR-4284	CLIP-seq
MIRT915847	hsa-miR-4292	CLIP-seq
MIRT915849	hsa-miR-4310	CLIP-seq
MIRT1971610	hsa-miR-4436a	CLIP-seq
MIRT915851	hsa-miR-4436b-3p	CLIP-seq
MIRT915852	hsa-miR-4437	CLIP-seq
MIRT915853	hsa-miR-4441	CLIP-seq
MIRT1971611	hsa-miR-4447	CLIP-seq
MIRT2207329	hsa-miR-4455	CLIP-seq
MIRT1971612	hsa-miR-4472	CLIP-seq
MIRT915860	hsa-miR-4514	CLIP-seq
MIRT2510452	hsa-miR-4515	CLIP-seq
MIRT915862	hsa-miR-4539	CLIP-seq
MIRT2436508	hsa-miR-455-3p	CLIP-seq
MIRT915865	hsa-miR-4640-5p	CLIP-seq
MIRT915867	hsa-miR-4645-5p	CLIP-seq
MIRT2436509	hsa-miR-4646-3p	CLIP-seq
MIRT915869	hsa-miR-4648	CLIP-seq
MIRT2207330	hsa-miR-4649-5p	CLIP-seq
MIRT2436510	hsa-miR-4650-5p	CLIP-seq
MIRT915871	hsa-miR-4654	CLIP-seq
MIRT915872	hsa-miR-4668-5p	CLIP-seq
MIRT915873	hsa-miR-4673	CLIP-seq
MIRT915874	hsa-miR-4685-5p	CLIP-seq
MIRT915875	hsa-miR-4688	CLIP-seq
MIRT915877	hsa-miR-4692	CLIP-seq
MIRT915880	hsa-miR-4724-5p	CLIP-seq
MIRT915881	hsa-miR-4726-5p	CLIP-seq
MIRT915882	hsa-miR-4728-5p	CLIP-seq
MIRT915884	hsa-miR-4733-5p	CLIP-seq
MIRT1971618	hsa-miR-4736	CLIP-seq
MIRT915885	hsa-miR-4739	CLIP-seq
MIRT915887	hsa-miR-4742-5p	CLIP-seq
MIRT915888	hsa-miR-4745-3p	CLIP-seq
MIRT915889	hsa-miR-4749-3p	CLIP-seq
MIRT915890	hsa-miR-4756-5p	CLIP-seq
MIRT2436511	hsa-miR-4757-5p	CLIP-seq
MIRT2207331	hsa-miR-4761-5p	CLIP-seq
MIRT915891	hsa-miR-4762-3p	CLIP-seq
MIRT915892	hsa-miR-4763-3p	CLIP-seq
MIRT915893	hsa-miR-4767	CLIP-seq
MIRT915894	hsa-miR-4769-5p	CLIP-seq
MIRT915895	hsa-miR-4793-5p	CLIP-seq
MIRT2436512	hsa-miR-483-3p	CLIP-seq
MIRT1971621	hsa-miR-491-5p	CLIP-seq
MIRT915896	hsa-miR-548aa	CLIP-seq
MIRT2207332	hsa-miR-574-5p	CLIP-seq
MIRT2207333	hsa-miR-609	CLIP-seq
MIRT915898	hsa-miR-612	CLIP-seq
MIRT2207334	hsa-miR-624	CLIP-seq
MIRT2436513	hsa-miR-629	CLIP-seq
MIRT915900	hsa-miR-635	CLIP-seq
MIRT915901	hsa-miR-644	CLIP-seq
MIRT1971623	hsa-miR-657	CLIP-seq
MIRT2510453	hsa-miR-892b	CLIP-seq
MIRT915902	hsa-miR-940	CLIP-seq
MIRT915794	hsa-miR-103a	CLIP-seq
MIRT915795	hsa-miR-107	CLIP-seq
MIRT2207325	hsa-miR-1205	CLIP-seq
MIRT915796	hsa-miR-1207-3p	CLIP-seq
MIRT915798	hsa-miR-1224-3p	CLIP-seq
MIRT915799	hsa-miR-1226	CLIP-seq
MIRT2436497	hsa-miR-1251	CLIP-seq
MIRT915801	hsa-miR-1285	CLIP-seq
MIRT915804	hsa-miR-1321	CLIP-seq
MIRT915806	hsa-miR-140-3p	CLIP-seq
MIRT915807	hsa-miR-147	CLIP-seq
MIRT2510451	hsa-miR-149	CLIP-seq
MIRT915808	hsa-miR-1538	CLIP-seq
MIRT2436498	hsa-miR-1910	CLIP-seq
MIRT915810	hsa-miR-1915	CLIP-seq
MIRT915812	hsa-miR-1972	CLIP-seq
MIRT915814	hsa-miR-2115	CLIP-seq
MIRT2436499	hsa-miR-2355-3p	CLIP-seq
MIRT915815	hsa-miR-24	CLIP-seq
MIRT915816	hsa-miR-2467-3p	CLIP-seq
MIRT915817	hsa-miR-296-5p	CLIP-seq
MIRT2436500	hsa-miR-29a	CLIP-seq
MIRT2436501	hsa-miR-29b	CLIP-seq
MIRT2436502	hsa-miR-29c	CLIP-seq
MIRT2436503	hsa-miR-3065-3p	CLIP-seq
MIRT915818	hsa-miR-3120-3p	CLIP-seq
MIRT915820	hsa-miR-3136-3p	CLIP-seq
MIRT2207326	hsa-miR-3155	CLIP-seq
MIRT2207327	hsa-miR-3155b	CLIP-seq
MIRT915822	hsa-miR-3184	CLIP-seq
MIRT915823	hsa-miR-3187-5p	CLIP-seq
MIRT915826	hsa-miR-3199	CLIP-seq
MIRT915827	hsa-miR-320e	CLIP-seq
MIRT915828	hsa-miR-323b-3p	CLIP-seq
MIRT915831	hsa-miR-331-3p	CLIP-seq
MIRT2207328	hsa-miR-3620	CLIP-seq
MIRT915832	hsa-miR-3650	CLIP-seq
MIRT2436504	hsa-miR-3667-3p	CLIP-seq
MIRT915834	hsa-miR-3689a-3p	CLIP-seq
MIRT915835	hsa-miR-3689c	CLIP-seq
MIRT915837	hsa-miR-3911	CLIP-seq
MIRT915839	hsa-miR-3943	CLIP-seq
MIRT915840	hsa-miR-3944-3p	CLIP-seq
MIRT915841	hsa-miR-423-5p	CLIP-seq
MIRT2436505	hsa-miR-4264	CLIP-seq
MIRT2436506	hsa-miR-4267	CLIP-seq
MIRT915844	hsa-miR-4270	CLIP-seq
MIRT2436507	hsa-miR-4284	CLIP-seq
MIRT915847	hsa-miR-4292	CLIP-seq
MIRT915849	hsa-miR-4310	CLIP-seq
MIRT1971610	hsa-miR-4436a	CLIP-seq
MIRT915853	hsa-miR-4441	CLIP-seq
MIRT2207329	hsa-miR-4455	CLIP-seq
MIRT915860	hsa-miR-4514	CLIP-seq
MIRT2510452	hsa-miR-4515	CLIP-seq
MIRT915862	hsa-miR-4539	CLIP-seq
MIRT2436508	hsa-miR-455-3p	CLIP-seq
MIRT915865	hsa-miR-4640-5p	CLIP-seq
MIRT915867	hsa-miR-4645-5p	CLIP-seq
MIRT2436509	hsa-miR-4646-3p	CLIP-seq
MIRT915869	hsa-miR-4648	CLIP-seq
MIRT2207330	hsa-miR-4649-5p	CLIP-seq
MIRT2436510	hsa-miR-4650-5p	CLIP-seq
MIRT915871	hsa-miR-4654	CLIP-seq
MIRT915872	hsa-miR-4668-5p	CLIP-seq
MIRT915873	hsa-miR-4673	CLIP-seq
MIRT915874	hsa-miR-4685-5p	CLIP-seq
MIRT915877	hsa-miR-4692	CLIP-seq
MIRT915880	hsa-miR-4724-5p	CLIP-seq
MIRT915881	hsa-miR-4726-5p	CLIP-seq
MIRT915882	hsa-miR-4728-5p	CLIP-seq
MIRT915884	hsa-miR-4733-5p	CLIP-seq
MIRT915885	hsa-miR-4739	CLIP-seq
MIRT915888	hsa-miR-4745-3p	CLIP-seq
MIRT915889	hsa-miR-4749-3p	CLIP-seq
MIRT915890	hsa-miR-4756-5p	CLIP-seq
MIRT2436511	hsa-miR-4757-5p	CLIP-seq
MIRT2207331	hsa-miR-4761-5p	CLIP-seq
MIRT915891	hsa-miR-4762-3p	CLIP-seq
MIRT915893	hsa-miR-4767	CLIP-seq
MIRT915894	hsa-miR-4769-5p	CLIP-seq
MIRT915895	hsa-miR-4793-5p	CLIP-seq
MIRT2436512	hsa-miR-483-3p	CLIP-seq
MIRT915896	hsa-miR-548aa	CLIP-seq
MIRT2207332	hsa-miR-574-5p	CLIP-seq
MIRT2207333	hsa-miR-609	CLIP-seq
MIRT915898	hsa-miR-612	CLIP-seq
MIRT2207334	hsa-miR-624	CLIP-seq
MIRT2436513	hsa-miR-629	CLIP-seq
MIRT915900	hsa-miR-635	CLIP-seq
MIRT915901	hsa-miR-644	CLIP-seq
MIRT2510453	hsa-miR-892b	CLIP-seq
MIRT915902	hsa-miR-940	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ARNT	Unknown	9611253
BRCA1	Repression	11244506
ESR1	Unknown	10037443;19569049
ESR2	Unknown	10037443
MYCN	Activation	18566016
NFATC3	Activation	16219765
TP53	Activation	10029407
USF1	Activation	9731700
USF2	Activation	9731700

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000045	Process	Autophagosome assembly	IEA
GO:0004175	Function	Endopeptidase activity	IEA
GO:0004190	Function	Aspartic-type endopeptidase activity	IBA
GO:0004190	Function	Aspartic-type endopeptidase activity	IEA
GO:0004190	Function	Aspartic-type endopeptidase activity	TAS	3927292
GO:0004197	Function	Cysteine-type endopeptidase activity	TAS
GO:0005515	Function	Protein binding	IPI	17112520, 28493053, 32814053
GO:0005576	Component	Extracellular region	HDA	27068509
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	NAS	14718574
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	HDA	16502470, 20551380
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IEA
GO:0005615	Component	Extracellular space	ISS	22261194
GO:0005737	Component	Cytoplasm	IEA
GO:0005764	Component	Lysosome	IBA
GO:0005764	Component	Lysosome	IDA	1692625, 1837142, 2350688, 12107093, 18337546, 19723497
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IDA	17188016
GO:0005829	Component	Cytosol	IDA	12107093
GO:0006508	Process	Proteolysis	IBA
GO:0006508	Process	Proteolysis	IDA	16997486
GO:0006508	Process	Proteolysis	IEA
GO:0006508	Process	Proteolysis	IMP	17188016
GO:0008233	Function	Peptidase activity	IDA	16997486
GO:0008233	Function	Peptidase activity	IEA
GO:0008233	Function	Peptidase activity	IMP	17188016
GO:0010008	Component	Endosome membrane	IDA	17188016
GO:0016787	Function	Hydrolase activity	IEA
GO:0019886	Process	Antigen processing and presentation of exogenous peptide antigen via MHC class II	TAS
GO:0031012	Component	Extracellular matrix	HDA	20551380
GO:0031012	Component	Extracellular matrix	HDA	25037231, 28344315, 28675934
GO:0031904	Component	Endosome lumen	IEA
GO:0035580	Component	Specific granule lumen	TAS
GO:0038020	Process	Insulin receptor recycling	IEA
GO:0042159	Process	Lipoprotein catabolic process	IDA	16997486
GO:0042470	Component	Melanosome	IEA
GO:0043065	Process	Positive regulation of apoptotic process	IDA	12107093
GO:0043202	Component	Lysosomal lumen	TAS
GO:0045121	Component	Membrane raft	IDA	25204797
GO:0070001	Function	Aspartic-type peptidase activity	IEA
GO:0070001	Function	Aspartic-type peptidase activity	ISS
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0070201	Process	Regulation of establishment of protein localization	IDA	12107093
GO:0097194	Process	Execution phase of apoptosis	IDA	12107093
GO:1901143	Process	Insulin catabolic process	IEA
GO:1904724	Component	Tertiary granule lumen	TAS
GO:1904813	Component	Ficolin-1-rich granule lumen	TAS

Other IDs

• MIM: 116840
• HGNC: 2529
• e!Ensembl: ENSG00000117984

Protein

• UniProt ID: P07339
• Protein name: Cathepsin D (EC 3.4.23.5) [Cleaved into: Cathepsin D light chain; Cathepsin D heavy chain]
• Protein function: Acid protease active in intracellular protein breakdown. Plays a role in APP processing following cleavage and activation by ADAM30 which leads to APP degradation (PubMed:27333034). Involved in the pathogenesis of several diseases such as breast
• PDB: 1LYA, 1LYB, 1LYW, 4OBZ, 4OC6, 4OD9
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07966	A1_Propeptide	21 → 50	A1 Propeptide	Motif
  PF00026	Asp	78 → 409	Eukaryotic aspartyl protease	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the aorta extracellular space (at protein level) (PubMed:20551380). Expressed in liver (at protein level) (PubMed:1426530). {ECO:0000269|PubMed:1426530, ECO:0000269|PubMed:20551380}.
• Sequence:

  MQPSSLLPLALCLLAAPASALVRIPLHKFTSIRRTMSEVGGSVEDLIAKGPVSKYSQAVP
  AVTEGPIPEVLKNYMDAQYYGEIGIGTPPQCFTVVFDTGSSNLWVPSIHCKLLDIACWIH
  HKYNSDKSSTYVKNGTSFDIHYGSGSLSGYLSQDTVSVPCQSASSASALGGVKVERQVFG
  EATKQPGITFIAAKFDGILGMAYPRISVNNVLPVFDNLMQQKLVDQNIFSFYLSRDPDAQ
  PGGELMLGGTDSKYYKGSLSYLNVTRKAYWQVHLDQVEVASGLTLCKEGCEAIVDTGTSL
  MVGPVDEVRELQKAIGAVPLIQGEYMIPCEKVSTLPAITLKLGGKGYKLSPEDYTLKVSQ
  AGKTLCLSGFMGMDIPPPSGPLWILGDVFIGRYYTVFDRDNNRVGFAEAARL

• Sequence length: 412

Pathways

KEGG:

Sphingolipid signaling pathway
Autophagy - animal
Lysosome
Apoptosis
Estrogen signaling pathway
Tuberculosis
Diabetic cardiomyopathy

Reactome:

Collagen degradation
Metabolism of Angiotensinogen to Angiotensins
MHC class II antigen presentation
Neutrophil degranulation
Estrogen-dependent gene expression

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
Exaggerated startle response	Likely pathogenic	rs730882208	RCV000162114	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neuronal ceroid lipofuscinosis	Pathogenic; Likely pathogenic	rs752612332, rs2133659840, rs2133657906, rs2133657826, rs766300396, rs1845850847, rs774781089, rs2493825774, rs35855065, rs1845759700, rs1466648123, rs2493816889, rs2493823481, rs2493823533, rs2493834457, rs1402574017, rs2493823652, rs1845792332, rs2493816593, rs539823013, rs760929484, rs2493817237, rs2493825798, rs2493817148, rs2493820452, rs2493823379, rs2493834507, rs2493820472, rs2493816828, rs2493830143, rs1845841728, rs1845791308	RCV001999994 RCV002032208 RCV001979146 RCV002000048 RCV002020530 RCV001918223 RCV001980415 RCV003065238 RCV003086274 RCV003118441 RCV002805693 RCV002824407 RCV002819548 RCV002829096 RCV002866228 RCV002895724 RCV003013958 RCV003022249 RCV003039282 RCV003066081 RCV003533987 RCV003533943 RCV003531821 RCV003531842 RCV003532380 RCV003532501 RCV003648245 RCV003648528 RCV003648452 RCV003648606 RCV003648820 RCV003841168 RCV002527103 RCV001057268	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neuronal ceroid lipofuscinosis 10	Pathogenic; Likely pathogenic	rs2133668728, rs797045137, rs121912789, rs121912790, rs786205105, rs752612332	RCV001780593 RCV000190882 RCV000019134 RCV000019135 RCV000019136 RCV004796203	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Severe microlissencephaly	Likely pathogenic	rs730882208	RCV000162114	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMERS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 1	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS, RHEUMATOID	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, RENAL CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEROID LIPOFUSCINOSIS, NEURONAL, 10	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLN10 DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CTSD-related disorder	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHIES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE NEURONAL CEROID LIPOFUSCINOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-INFANTILE NEURONAL CEROID LIPOFUSCINOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOTOR NEURON DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURONAL CEROID-LIPOFUSCINOSES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	30306071		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	10619912, 16979516, 22824147, 26264650		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	18396902		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	18396902		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	22761399, 22824147		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of prostate	Prostate adenocarcinoma	BEFREE	8875196		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	LHGDN	11780226		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	BEFREE	30430081		★☆☆☆☆ Found in Text Mining only
Adult Fanconi syndrome	Fanconi syndrome	BEFREE	18174267		★☆☆☆☆ Found in Text Mining only
Aggressive Periodontitis	Aggressive Periodontitis	BEFREE	15081423		★☆☆☆☆ Found in Text Mining only
AICARDI-GOUTIERES SYNDROME	Aicardi Goutieres Syndrome	BEFREE	23261460		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	15907478, 16417614, 16543533, 18426579, 24731980, 25756588, 29359159, 30037983, 30192871, 31936569, 32323319, 36448495, 40329537, 7523115, 8034590, 8955370, 9236226	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	7695914	Stimulate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	11304834, 12826741, 15211070, 24281128		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	12151789, 16652347, 28223223, 28429406, 31243684		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	28917980		★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 1	Lateral Sclerosis	CTD_human_DG	11796754		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis, Familial	Amyotrophic lateral sclerosis	CTD_human_DG	11796754		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic	Lateral Sclerosis	CTD_human_DG	11796754		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic	Lateral Sclerosis	BEFREE	31504678		★☆☆☆☆ Found in Text Mining only
Anaplastic astrocytoma	Anaplastic Astrocytoma	BEFREE	15958563		★☆☆☆☆ Found in Text Mining only
Aneuploidy	Aneuploidy	Pubtator	2296271	Associate	★☆☆☆☆ Found in Text Mining only
Angle Closure Glaucoma	Angle Closure Glaucoma	BEFREE	30994369		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	22804761, 24833013	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	20387115, 28215160, 30616890		★☆☆☆☆ Found in Text Mining only
Arthritis Gouty	Gouty arthritis	Pubtator	37069596	Stimulate	★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	12389647	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	23483898		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	15958563		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	20387115, 28215160, 30616890		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	33964876, 35937806	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	20399529		★☆☆☆☆ Found in Text Mining only
Barrett Epithelium	Barrett Epithelium	BEFREE	18396902		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	18396902		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	LHGDN	18396902		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	19105184, 7776437		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	26203049	Associate	★☆☆☆☆ Found in Text Mining only
Bone Neoplasms	Bone neoplasm	Pubtator	26203049	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10481941, 10604737, 11165043, 12140763, 12165733, 12462383, 12611455, 12648521, 12651610, 12790787, 17440060, 17611405, 18494001, 18497053, 20826454, 21148553, 21311773, 2141510, 2207345, 22439866, 22898924, 22934887, 24929677, 2612733, 26563150, 26582416, 26867770, 28017540, 29087712, 29235371, 30076522, 30227221, 30344712, 30658511, 30717773, 3145027, 31809870, 3543022, 7684951, 7860998, 8262679, 8314314, 9179263, 9731700, 9927210		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	10389993, 10604737, 10883885, 11323501, 11865007, 12651610, 1332483, 15274401, 16033070, 16393696, 1680369, 17028091, 17127214, 17440060, 17649818, 18494001, 19923884, 21673435, 22384035, 22934887, 2296271, 24469035, 24929677, 26183398, 27538498, 30086159, 30884823, 3282224, 32846884, 3543022, 7819033, 7860998, 7980446, 8075029, 8195246, 8471433, 8666688, 9306940, 9611253, 9683294, 9888472	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	26867770	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	12801267, 26183398	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	35121737	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	30950340, 7776437		★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	17649818	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal Breast	Ductal carcinoma of breast	Pubtator	1332483	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	24614035, 26753874	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma in Situ	Carcinoma in situ	Pubtator	16033070	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	19105184		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	17284061, 20722505		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	19789534	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	10631462, 29024694, 29303207		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	LHGDN	17289576		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	23812247	Stimulate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	29375176		★☆☆☆☆ Found in Text Mining only
Carotid Artery Diseases	Carotid artery disease	Pubtator	36959587	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	29183303		★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar Diseases	BEFREE	23415546		★☆☆☆☆ Found in Text Mining only
Cerebral Amyloid Angiopathy Familial	Cerebral amyloid angiopathy	Pubtator	8955370	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Amyloid Angiopathy, Hereditary	Cerebral Amyloid Angiopathy	BEFREE	7839831, 8955370		★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ceroid lipofuscinosis neuronal 5	Neuronal ceroid lipofuscinosis	Pubtator	22431521	Associate	★☆☆☆☆ Found in Text Mining only
CEROID LIPOFUSCINOSIS, NEURONAL, 2	Neuronal ceroid lipofuscinosis	BEFREE	16518810		★☆☆☆☆ Found in Text Mining only
Cholesteatoma	Cholesteatoma	LHGDN	12011767		★☆☆☆☆ Found in Text Mining only
Cholesteatoma	Cholesteatoma	BEFREE	12792315		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	Pubtator	35406699	Inhibit	★☆☆☆☆ Found in Text Mining only
Chromophobe Renal Cell Carcinoma	Chromophobe Carcinoma	CTD_human_DG	15108329		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	31462509		★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	BEFREE	15081423		★☆☆☆☆ Found in Text Mining only
CLN10 disease	Neuronal Ceroid Lipofuscinosis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cognition Disorders	Cognition disorder	Pubtator	32323319	Associate	★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	25756588, 32323319	Associate	★☆☆☆☆ Found in Text Mining only
Collecting Duct Carcinoma of the Kidney	Renal Carcinoma	CTD_human_DG	15108329		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	31497251, 8945619, 9300184		★☆☆☆☆ Found in Text Mining only
Colonic Diseases	Colonic disease	Pubtator	37384399	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	12408466	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	20524204, 26086961, 28317223, 31497251, 7715907		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	17657837, 24516696, 26086961, 28317223, 35649359, 37108361	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	7715907		★☆☆☆☆ Found in Text Mining only
Complete hydatidiform mole	Complete Hydatidiform Mole	BEFREE	7694575		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	28694354, 31797504		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	15108329		★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	33964876	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	29480151		★☆☆☆☆ Found in Text Mining only
Creutzfeldt-Jakob Disease, Sporadic	Creutzfeldt-Jakob disease	BEFREE	19571726, 19828951		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	17951164, 19542465	Associate	★☆☆☆☆ Found in Text Mining only
Cystinosis	Cystinosis	BEFREE	18174267		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	CTD_human_DG	18784066		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	7612047		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	30051532		★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	Pubtator	36661295	Stimulate	★☆☆☆☆ Found in Text Mining only
Desmoid disease hereditary	Desmoid tumor	Pubtator	16254103	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	30670722, 31429631		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	26168996, 29312504, 30670722, 31429631, 31797504		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	30670722, 31446444	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	31797504, 36765354	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	19367387	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	28336215, 29375176		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	34737094	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	28468961		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	26718887, 28336215		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	28615690		★☆☆☆☆ Found in Text Mining only
Dysplastic Nevus	Dysplastic Nevus	BEFREE	11251949, 7860998		★☆☆☆☆ Found in Text Mining only
Endometrial adenocarcinoma	Endometrial Adenocarcinoma	BEFREE	10027332		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	10027332, 12648521, 8344199		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	10027332, 12801267, 8664123	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	18396408, 31340140		★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	LHGDN	19109932		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	29024694, 29303207		★☆☆☆☆ Found in Text Mining only
Esophageal Achalasia	Esophageal achalasia	Pubtator	24468662	Inhibit	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	11865007, 20430722	Associate	★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	BEFREE	12147324, 24418614, 7523115, 8955370		★☆☆☆☆ Found in Text Mining only
Familial Cerebral Amyloid Angiopathy	Cerebral amyloid angiopathy	BEFREE	7839831		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	31060228		★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	31060228		★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	24619111, 25428250, 29036611, 31242080		★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	29036611	Associate	★☆☆☆☆ Found in Text Mining only
Frontotemporal Lobar Degeneration	Frontotemporal dementia	BEFREE	29790198		★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	33261560	Associate	★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher disease	Pubtator	16293621, 31358474, 31669751	Associate	★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher Disease	BEFREE	31358474		★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	29183303, 30994369		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	15958563, 25482944, 30909789		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	25482944, 36552871, 38306361, 39505178	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	15958563, 30909789		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	15958563, 23029308		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	21979894, 23029308, 34798125	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease IIIB	Glycogen storage disease	Pubtator	20534902	Associate	★☆☆☆☆ Found in Text Mining only
Harlequin Fetus	Harlequin Ichthyosis	BEFREE	19179616		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	28694354, 31797504		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	31797504, 38573265	Associate	★☆☆☆☆ Found in Text Mining only
Hemolysis	Hemolysis	Pubtator	36448495	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	19221643	Associate	★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung disease	Pubtator	37384399	Associate	★☆☆☆☆ Found in Text Mining only
Ichthyosis Lamellar	Lamellar ichthyosis	Pubtator	19179616	Inhibit	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	29480151		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	26420861	Associate	★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	38041088	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Volvulus	Intestinal Volvulus	BEFREE	15363940		★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	12779085		★☆☆☆☆ Found in Text Mining only
Juvenile Neuronal Ceroid Lipofuscinosis	Neuronal Ceroid Lipofuscinosis	BEFREE	17495518		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney Disease	CTD_human_DG	15213268		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure, Acute	Kidney Failure	BEFREE	30959855		★☆☆☆☆ Found in Text Mining only
Lafora Disease	Lafora Disease	BEFREE	22803570, 29748975		★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	21789704	Associate	★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy body disease	Pubtator	29775672	Associate	★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	29948939, 29993134, 30051532		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy body disease	Pubtator	29948939	Inhibit	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	21472284		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	24259486, 26753874		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	38439203	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	38439203	Associate	★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	23483898		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	23483898	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	36114579	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	17657837, 21789704	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	26753874, 26995190	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	20534902	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	BEFREE	20489146		★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	32815311	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10481941, 10604737, 11165043, 12140763, 12165733, 12462383, 12611455, 12648521, 12651610, 12790787, 17440060, 17611405, 18494001, 18497053, 20826454, 21148553, 21311773, 2141510, 2207345, 22439866, 22898924, 22934887, 24929677, 2612733, 26563150, 26582416, 26867770, 29087712, 29235371, 30076522, 30227221, 30344712, 30658511, 30717773, 3145027, 31809870, 3543022, 7684951, 7833123, 7860998, 8204364, 8262679, 8314314, 8419924, 9179263, 9731700, 9927210		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	10027332, 12648521, 8344199		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	17284061, 20722505		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	10631462		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	16215274		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	16956360, 28767721, 30216634, 7541934		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	17013881		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	28791438		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	19105184		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10481941, 11857353, 15668295, 18396408, 18559512, 20684763, 21148553, 22292775, 22996917, 23871913, 25849766, 26203049, 28215160, 28317223, 29024694, 30216634, 31306655		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	31497251		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	12140763, 12651610, 18202773, 18494001		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	26582416, 7545416		★☆☆☆☆ Found in Text Mining only
Maple Syrup Urine Disease	Maple Syrup Urine Disease	BEFREE	27660262		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	BEFREE	7860998		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	11251949, 29047110, 7860998		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	16709808		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	18343923, 24511668, 7860998	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	26086961	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	LHGDN	15739123		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	28694354, 31429631		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	28694354		★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	Pubtator	36661295	Associate	★☆☆☆☆ Found in Text Mining only
Myositis Inclusion Body	Myositis	Pubtator	20616343	Associate	★☆☆☆☆ Found in Text Mining only
MYOTONIC DYSTROPHY 1	Myotonic dystrophy	BEFREE	26168996		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	18433155		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	20124091, 26995190	Associate	★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	31797504	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10408848, 10631462, 12140763, 12779085, 12790787, 1451100, 14695176, 15958563, 17611405, 18222970, 18559512, 20304996, 2141510, 21947242, 23871913, 26183398, 26263057, 26657266, 28482048, 29367161, 30430081, 30717773, 31306655, 31497251, 7541934, 7684951, 7715907, 7776437, 8302708, 8861840, 8883411, 9619826, 9643688, 9726005		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	11857353, 17395004, 18566016, 29679389		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	LHGDN	18566016		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	35563171	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	16685649, 17495518, 26448324, 29224051, 29284168, 30485484, 30690031, 31134487		★☆☆☆☆ Found in Text Mining only
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY	Neuronal ceroid lipofuscinosis	BEFREE	16670177, 20489146, 29284168		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY	Neuronal ceroid lipofuscinosis	UNIPROT_DG	16670177, 16685649, 21990111		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY	Neuronal ceroid lipofuscinosis	GENOMICS_ENGLAND_DG	16670177, 16685649, 27604308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY	Neuronal ceroid lipofuscinosis	CLINVAR_DG	16685649		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY	Neuronal ceroid lipofuscinosis	ORPHANET_DG	21990111		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY	Neuronal ceroid lipofuscinosis	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuronal Ceroid Lipofuscinosis, Congenital	Congenital Neuronal Ceroid Lipofuscinosis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Neuronal Ceroid-Lipofuscinoses	Neuronal Ceroid Lipofuscinosis	BEFREE	11001810, 15265688, 15965709, 17495518, 18396408, 18762956, 19807669, 19807737, 20489146, 20680390, 24619111, 26232697, 26448324, 28502476, 29036611, 31282275		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neutropenia Nonimmune Chronic Idiopathic Adult	Neutropenia, nonimmune chronic idiopathic, adult	Pubtator	31841566	Associate	★☆☆☆☆ Found in Text Mining only
New Variant Creutzfeldt-Jakob Disease	Creutzfeldt-Jakob Disease	BEFREE	18426579		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	31060228		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	26264650, 30145925		★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	31060228		★☆☆☆☆ Found in Text Mining only
Oculocerebrorenal Syndrome	Oculocerebrorenal Syndrome	BEFREE	18174267		★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	2141510, 9731700		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	35406699	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis	Osteoarthritis	Pubtator	37853066	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthrosis Deformans	Osteoarthrosis Deformans	CTD_human_DG	18784066		★☆☆☆☆ Found in Text Mining only
Osteoglophonic dwarfism	Osteoglophonic dwarfism	Pubtator	32519067	Stimulate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	35937806	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	26203049		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	26203049	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	20385381	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	10631462		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	12083803		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	10631462, 18657225	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	16215274		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	17875703		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	16215274	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	17496331	Stimulate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	29229780		★☆☆☆☆ Found in Text Mining only
Pancreatitis Chronic	Pancreatitis	Pubtator	17496331	Stimulate	★☆☆☆☆ Found in Text Mining only
Papillary Renal Cell Carcinoma	Papillary Renal Carcinoma	CTD_human_DG	15108329		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	12811635, 19505575, 24152121, 26448324, 27509067, 28917980, 29196214, 29948939, 29993134, 30485484, 30950340, 31634558		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	24152121, 25617759, 26448324, 29140481, 36233303	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	29948939	Inhibit	★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal Diseases	BEFREE	7637320		★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	31797504		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	30051532		★☆☆☆☆ Found in Text Mining only
Primary angle-closure glaucoma	Angle closure glaucoma	BEFREE	30994369		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	16956360, 28767721, 30216634, 7541934		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	17013881		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	20132547, 21470957, 30216634, 32421745	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	22852767, 27084846, 39456887	Associate	★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	15108329		★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	28336215		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	34070492	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	CTD_human_DG	12833524		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	7612047		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	36478349	Associate	★☆☆☆☆ Found in Text Mining only
Sarcomatoid Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	15108329		★☆☆☆☆ Found in Text Mining only
Senile Plaques	Senile Plaques	BEFREE	18426579		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sick Sinus Syndrome	Sick sinus syndrome	Pubtator	2296271, 8666688, 9701723	Associate	★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	11092531	Associate	★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	20617533	Stimulate	★☆☆☆☆ Found in Text Mining only
Smith-Lemli-Opitz Syndrome	Smith-Lemli-Opitz Syndrome	BEFREE	29979914		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 7	Spinocerebellar Ataxia	BEFREE	24859968		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	11820719, 17399918, 39343784	Associate	★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	28615690, 31060228		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	28791438		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	28423550	Associate	★☆☆☆☆ Found in Text Mining only
Tauopathies	Tauopathies	BEFREE	26936765		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	26563150, 30717773, 30884823		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	27502396, 30884823	Associate	★☆☆☆☆ Found in Text Mining only
Type II Mucolipidosis	Mucolipidosis	BEFREE	8408210		★☆☆☆☆ Found in Text Mining only
Urticaria	Urticaria	BEFREE	23341224		★☆☆☆☆ Found in Text Mining only
Ventricular Remodeling	Ventricular remodeling	Pubtator	35210034	Associate	★☆☆☆☆ Found in Text Mining only