CTSD (cathepsin D)

Gene

• Entrez ID: 1509
• Gene name: Cathepsin D
• Gene symbol: CTSD
• Synonyms (NCBI Gene): CLN10, CPSD, HEL-S-130P
• Disease Acronyms (UniProt): CLN10
• 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:0004190	Function	Aspartic-type endopeptidase activity	IEA
GO:0005515	Function	Protein binding	IPI	17112520, 27333034, 28493053, 32814053
GO:0005576	Component	Extracellular region	HDA	27068509
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	ISS	22261194
GO:0005764	Component	Lysosome	IBA	21873635
GO:0005764	Component	Lysosome	IDA	1692625, 1837142, 2350688, 19723497
GO:0005765	Component	Lysosomal membrane	IDA	17188016
GO:0006508	Process	Proteolysis	IDA	16997486
GO:0006508	Process	Proteolysis	IMP	17188016
GO:0008233	Function	Peptidase activity	IDA	16997486
GO:0008233	Function	Peptidase activity	IMP	17188016
GO:0010008	Component	Endosome membrane	IDA	17188016
GO:0019886	Process	Antigen processing and presentation of exogenous peptide antigen via MHC class II	TAS
GO:0030574	Process	Collagen catabolic process	TAS
GO:0035580	Component	Specific granule lumen	TAS
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:0043280	Process	Positive regulation of cysteine-type endopeptidase activity involved in apoptotic process	IDA	12107093
GO:0043312	Process	Neutrophil degranulation	TAS
GO:0045121	Component	Membrane raft	IDA	25204797
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	25037231, 28344315, 28675934
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	20551380
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: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

Causal
Disease term	Disease name	dbSNP ID	References
Amyotrophic lateral sclerosis	Amyotrophic Lateral Sclerosis, Familial	rs267607084, rs312262720, rs312262752, rs121908287, rs121908288, rs29001584, rs28941475, rs121434378, rs386134173, rs386134174, rs80356730, rs80356727, rs4884357, rs80356717, rs80356733, rs80356731, rs80356726, rs267606928, rs267606929, rs121434591, rs121912431, rs121912432, rs121912433, rs121912434, rs121912435, rs121912440, rs121912436, rs121912437, rs121912438, rs121912439, rs74315452, rs121912442, rs121912443, rs121912444, rs121912446, rs121912447, rs1197141604, rs121912448, rs121912449, rs121912450, rs121912451, rs121912452, rs121912453, rs121912454, rs369600566, rs121912455, rs121912456, rs121912457, rs121912458, rs1555836889, rs121909667, rs121909668, rs121909669, rs121909671, rs121909535, rs121909537, rs121909538, rs121909539, rs121909540, rs121909542, rs121909544, rs80356734, rs367543041, rs80356740, rs80356719, rs80356721, rs80356723, rs80356725, rs387906627, rs387906628, rs387906709, rs387906710, rs387906711, rs387906829, rs387907264, rs387907265, rs387907266, rs312262739, rs312262709, rs312262749, rs200793464, rs147713329, rs312262788, rs397514262, rs63751180, rs587777132, rs730880025, rs730880026, rs730880027, rs368743618, rs730880029, rs730882255, rs730882256, rs786205611, rs121912441, rs199947197, rs780136067, rs772731615, rs879253926, rs879254294, rs764717219, rs886041390, rs750159428, rs753207473, rs267607087, rs767350733, rs778305085, rs1554707680, rs1554707622, rs1393363759, rs750959420, rs1555509569, rs1554716504, rs11556620, rs1247392012, rs142083484, rs140385286, rs371575563, rs1402429085, rs1555179091, rs1555179087, rs746971952, rs1555836950, rs368276916, rs140376902, rs747220413, rs76731700, rs770684782, rs1200906022, rs1804449, rs1482760341, rs769898852, rs140599944, rs757972700, rs1555451521, rs1592362719, rs1555836803, rs763455928, rs1378590183, rs1583695322, rs1362178149, rs1197928094, rs368751524, rs1555509609, rs1574787779, rs1601157750, rs1301635320, rs1341055534, rs1402092579, rs1568809172, rs1555836170, rs1315541036, rs1339283341, rs1643659556, rs1644506661, rs1435710212, rs1553122918, rs1689580631, rs374047961, rs775935265, rs2076486420, rs1820836522, rs757260058, rs1844420892, rs1833371664, rs1833438306, rs1833451208, rs2083790483, rs1303294230, rs1226110412, rs2053207945, rs2053208751, rs2053501632, rs2053539304, rs1567479067, rs544088874, rs1228194239, rs1568807400, rs1169198442, rs2049594204, rs2049594311, rs1568810641, rs1568811372, rs2049618449, rs1476760624, rs2079347087	11796754
Arthritis	Degenerative polyarthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470	18784066
Mental retardation	Severe intellectual disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Kidney disease	Kidney Diseases	rs74315342, rs749740335, rs757649673, rs112417755, rs35138315	15213268
Lateral sclerosis	AMYOTROPHIC LATERAL SCLEROSIS 1, Amyotrophic Lateral Sclerosis, Sporadic	rs386134181, rs386134176, rs386134174, rs386134184, rs386134178, rs1693780539, rs1574698048	11796754
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Neuronal ceroid lipofuscinosis	NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY, CLN10 disease	rs118203975, rs118203976, rs118203977, rs267607235, rs140948465, rs1740291234, rs386833969, rs104894385, rs104894386, rs121908292, rs267606738, rs1555274312, rs119455953, rs119455954, rs119455955, rs56144125, rs119455956, rs28940573, rs119455957, rs119455958, rs104894064, rs28940569, rs104894060, rs137852883, rs1555468634, rs121434286, rs267606737, rs104894483, rs397515352, rs774543080, rs121908080, rs786205067, rs137852695, rs137852696, rs137852697, rs137852698, rs137852699, rs137852700, rs137852701, rs137852702, rs63749877, rs121912789, rs121912790, rs786205105, rs154774634, rs587776892, rs387907246, rs386833624, rs386833626, rs386833625, rs386833627, rs386833628, rs386833629, rs386833630, rs386833632, rs386833633, rs386833634, rs386833635, rs386833636, rs386833637, rs386833638, rs386833641, rs386833642, rs386833643, rs386833644, rs386833645, rs386833646, rs386833647, rs386833648, rs386833649, rs386833650, rs386833651, rs386833652, rs386833653, rs148412181, rs386833654, rs386833655, rs386833656, rs386833657, rs386833658, rs386833659, rs386833660, rs386833661, rs386833663, rs386833664, rs386833665, rs386833666, rs386833667, rs386833668, rs386833669, rs386833671, rs386833694, rs386833695, rs386833696, rs386833697, rs386833698, rs386833699, rs386833700, rs386833701, rs386833702, rs386833703, rs386833704, rs386833705, rs386833706, rs386833707, rs386833708, rs386833709, rs386833710, rs386833712, rs386833713, rs386833714, rs386833715, rs386833717, rs386833720, rs386833721, rs386833722, rs386833724, rs386833725, rs386833726, rs386833728, rs386833729, rs386833730, rs386833731, rs386833732, rs386833735, rs386833736, rs386833737, rs386833739, rs386833740, rs386833741, rs386833742, rs386833743, rs386833744, rs386833963, rs386833964, rs386833965, rs386833966, rs386833967, rs386833970, rs386833971, rs386833972, rs386833973, rs386833974, rs386833975, rs386833978, rs386833979, rs386833980, rs386833981, rs386833982, rs386833983, rs386834123, rs386834124, rs386834125, rs386834126, rs386834128, rs386834130, rs386834132, rs386834133, rs386834135, rs34238807, rs386834138, rs386834139, rs397514731, rs397514732, rs753084727, rs587778809, rs154774640, rs154774639, rs121908197, rs121908198, rs121908199, rs121908200, rs121908201, rs121908203, rs121908202, rs121908195, rs121908204, rs121908205, rs121908209, rs121908207, rs104895127, rs63750411, rs587779397, rs587780315, rs724159970, rs727502800, rs727502801, rs724159971, rs746645358, rs786204553, rs786204753, rs778232650, rs786204644, rs794727955, rs794729218, rs796052925, rs796052923, rs796052927, rs558274487, rs796052752, rs144495588, rs1554901472, rs750428882, rs796053439, rs763162812, rs756564767, rs202189057, rs759080581, rs746085696, rs546989392, rs143781303, rs796052356, rs796052351, rs796052335, rs797045136, rs797045137, rs765097897, rs864309505, rs869025274, rs869312751, rs1085307087, rs878853322, rs878853325, rs878853929, rs878855053, rs878855331, rs553522118, rs748710466, rs886041568, rs886041487, rs886041546, rs1057516575, rs1057516889, rs1057517401, rs1057516447, rs1057517049, rs1057517192, rs1057517368, rs1057517112, rs747204624, rs1057516867, rs1057516582, rs756267448, rs1057516579, rs1057516511, rs1057516264, rs1057516319, rs113019349, rs1057517313, rs1057516945, rs752164603, rs1057516366, rs1057516667, rs1057516814, rs780198002, rs1057517134, rs1057516390, rs764495616, rs750935331, rs1057516677, rs1057516267, rs771788391, rs1057517350, rs1057516335, rs1057517287, rs1057517215, rs1057516343, rs777625354, rs764051026, rs559155109, rs1064796787, rs139842473, rs1064794233, rs181995380, rs1064795153, rs752612332, rs1131691676, rs1131691539, rs1555438255, rs1555058286, rs1555274005, rs1555468632, rs200348035, rs1265044710, rs1439582451, rs751696703, rs761621368, rs143730802, rs1554901580, rs1554902052, rs1553950197, rs200319160, rs143657539, rs1554901523, rs1555274338, rs1555273604, rs1555273881, rs1216139602, rs762226836, rs1553167863, rs1553166135, rs1553166147, rs1553167430, rs1349528345, rs1553166499, rs1553166337, rs1553167415, rs1553167474, rs1553167479, rs1554451504, rs746397087, rs1554449028, rs759830733, rs1554449124, rs554042394, rs1554451484, rs1554448874, rs1554448924, rs1554449047, rs1554449136, rs1554901463, rs1184563885, rs1554902043, rs763961289, rs1407106889, rs1554901576, rs1554901731, rs1424116749, rs1554901784, rs1554902216, rs779615685, rs1554902085, rs764790770, rs1555274343, rs1555274369, rs1555273567, rs1555274365, rs1555273609, rs1555274344, rs1555274373, rs1555274387, rs1451777867, rs762902907, rs756522171, rs1555438212, rs1555438443, rs1555468374, rs1555469452, rs1555467473, rs1418997146, rs1555273882, rs1478660606, rs1555273992, rs1555274014, rs1555274337, rs142456044, rs1555469159, rs758921701, rs1555469089, rs1555469477, rs1554901898, rs1554902217, rs1564855860, rs1564854729, rs1460276679, rs1560776422, rs556661896, rs868732642, rs1564855725, rs1566219136, rs1381427322, rs1557714302, rs1593914689, rs1302326945, rs1570470281, rs1570476221, rs775699005, rs1578912362, rs750162094, rs759664259, rs1589947644, rs1012449574, rs1570467252, rs778875017, rs1578794927, rs1578912759, rs1314967038, rs1465284719, rs1595816465, rs1595816474, rs1596563048, rs1565311875, rs2046113301, rs1578889355, rs776253867, rs1649597261, rs1649901192, rs749315686, rs1801297484, rs764256845, rs1242337070, rs2034349431, rs1380684360, rs1648444864, rs1739594685, rs1736369601, rs1739482158, rs1471253353, rs2046243804, rs1845791308, rs1397197980, rs2046158549	16685649, 21990111, 16670177, 27604308
Papillary renal carcinoma	Papillary Renal Cell Carcinoma	rs5030823, rs2137087134, rs121913668, rs121913669, rs121913670, rs121913671, rs121913673, rs121913243, rs786202724	15108329
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	17013881
Renal carcinoma	Renal Cell Carcinoma, Conventional (Clear Cell) Renal Cell Carcinoma, Sarcomatoid Renal Cell Carcinoma, Collecting Duct Carcinoma of the Kidney	rs121913668, rs121913670, rs121913243, rs786202724	15108329
Rheumatoid arthritis	Rheumatoid Arthritis	rs587776843	12833524
Rod-cone dystrophy	Rod-Cone Dystrophy	rs267606641, rs199476133, rs193302849, rs777668842, rs775518991, rs752300607, rs142759730, rs756225251, rs536742386, rs1588830568, rs778907433

Unknown
Disease term	Disease name	Evidence	References	Source
Chromophobe carcinoma	Chromophobe Renal Cell Carcinoma		15108329	ClinVar

Associations from Text Mining
Disease Name	Relationship Type	References
AA amyloidosis	Associate	7523115
Adenocarcinoma	Associate	17522418
Adenocarcinoma of Lung	Associate	22761399
Adenoma	Associate	12408466
Alzheimer Disease	Associate	15907478, 16417614, 16543533, 18426579, 24731980, 25756588, 29359159, 30037983, 30192871, 31936569, 32323319, 36448495, 40329537, 7523115, 8034590, 8955370, 9236226
Alzheimer Disease	Stimulate	7695914
Aneuploidy	Associate	2296271
Anti Glomerular Basement Membrane Disease	Associate	18216317
Aortic Aneurysm Abdominal	Associate	22804761, 24833013
Arthritis Gouty	Stimulate	37069596
Arthritis Juvenile	Associate	12389647
Atherosclerosis	Associate	33964876, 35937806
Bone Diseases	Associate	26203049
Bone Neoplasms	Associate	26203049
Brain Concussion	Stimulate	30644102
Breast Neoplasms	Associate	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
Breast Neoplasms	Stimulate	26867770
Carcinogenesis	Inhibit	12801267, 26183398
Carcinogenesis	Associate	35121737
Carcinoma Ductal	Stimulate	17649818
Carcinoma Ductal Breast	Associate	1332483
Carcinoma Hepatocellular	Associate	24614035, 26753874
Carcinoma in Situ	Associate	16033070
Carcinoma Non Small Cell Lung	Associate	22302483, 32244796
Carcinoma Renal Cell	Associate	19789534
Cardiomyopathies	Stimulate	23812247
Carotid Artery Diseases	Associate	36959587
Cerebral Amyloid Angiopathy Familial	Associate	8955370
Ceroid lipofuscinosis neuronal 5	Associate	22431521
Child Development Disorders Pervasive	Associate	34331747
Chondrosarcoma	Inhibit	35406699
Chronic Kidney Disease Mineral and Bone Disorder	Associate	28784837
Churg Strauss Syndrome	Stimulate	18263571
Cognition Disorders	Associate	32323319
Cognitive Dysfunction	Associate	25756588, 32323319
Colonic Diseases	Associate	37384399
Colonic Neoplasms	Associate	12408466
Colorectal Neoplasms	Associate	17657837, 24516696, 26086961, 28317223, 35649359, 37108361
Coronary Disease	Associate	33964876
Creutzfeldt Jakob Syndrome	Associate	18426579
Cystic Fibrosis	Associate	17951164, 19542465
Death	Associate	20534902, 2296271
Death Sudden Cardiac	Inhibit	32176724
Death Sudden Cardiac	Associate	33964876
Dermatomyositis	Stimulate	36661295
Desmoid disease hereditary	Associate	16254103
Diabetes Mellitus	Associate	30670722, 31446444
Diabetes Mellitus	Stimulate	31797504, 36765354
Diabetes Mellitus Type 2	Inhibit	19367387
Diabetic Nephropathies	Associate	34737094
Diffuse Neurofibrillary Tangles with Calcification	Associate	32323319
Drug Related Side Effects and Adverse Reactions	Stimulate	10518780
Drug Related Side Effects and Adverse Reactions	Associate	18657225
Drug Related Side Effects and Adverse Reactions	Inhibit	24138030
Dysplastic Nevus Syndrome	Associate	7860998
Endometrial Neoplasms	Associate	10027332, 12801267, 8664123
Esophageal Achalasia	Inhibit	24468662
Esophageal Squamous Cell Carcinoma	Associate	11865007, 20430722
Fibrosis	Associate	38439203
Frontotemporal Dementia	Associate	29036611
Frontotemporal Lobar Degeneration	Associate	36142612
Gallbladder Neoplasms	Associate	33261560
Gaucher Disease	Associate	16293621, 31358474, 31669751
Glioblastoma	Associate	25482944, 36552871, 38306361, 39505178
Glioma	Associate	21979894, 23029308, 34798125
Glucose Intolerance	Associate	28846711
Glycogen Storage Disease IIIB	Associate	20534902
HAIR AN syndrome	Associate	12389647
Heart Failure	Associate	31797504, 38573265
Hemolysis	Associate	36448495
Hereditary Breast and Ovarian Cancer Syndrome	Associate	19221643
Hidradenitis Suppurativa	Stimulate	33766512
Hirschsprung Disease	Associate	37384399
Hypertension Pregnancy Induced	Inhibit	20802542
Ichthyosis Lamellar	Inhibit	19179616
Insulin Resistance	Associate	26420861
Intervertebral Disc Degeneration	Associate	38041088
Langer Giedion Syndrome	Associate	26183398
Laryngeal Neoplasms	Associate	21789704
Lewy Body Disease	Associate	29775672
Lewy Body Disease	Inhibit	29948939
Liver Diseases	Associate	38439203
Liver Failure	Associate	38439203
Lung Diseases	Associate	23483898
Lupus Erythematosus Systemic	Associate	36114579
Lymphatic Metastasis	Stimulate	17657837, 21789704
Lymphatic Metastasis	Associate	26753874, 26995190
Lymphoma	Stimulate	20534902
Lymphoma Large B Cell Diffuse	Associate	20534902, 34873574
Lymphoma Non Hodgkin	Associate	20534902
Lymphoma Primary Effusion	Associate	24198402
Lysosomal Storage Diseases	Inhibit	26448324
Lysosomal Storage Diseases	Associate	30086361
Macular Degeneration	Associate	32815311
Melanoma	Associate	18343923, 24511668, 7860998
Microaneurysm	Associate	36448495
Mitochondrial Diseases	Associate	26086961
Myositis	Associate	36661295
Myositis Inclusion Body	Associate	20616343
Nasopharyngeal Carcinoma	Associate	20124091, 26995190
Necrosis	Associate	31797504
Neointima	Associate	8955370
Neoplasm Metastasis	Associate	10389993, 16033070, 17649818, 21789704, 26183398, 26203049, 27502396, 27683953, 35121737, 37439806, 8075029
Neoplasms	Associate	10389993, 10491196, 11865007, 12408466, 1332483, 1680369, 18419622, 19923884, 20430722, 22302483, 23902561, 24511668, 24991835, 26183398, 28317223, 30216634, 32421745, 34873574, 35121737, 36478349, 36672225, 7819033, 7980446, 8075029, 8471433, 8666688, 9306940, 9701723, 9888472
Neoplasms	Inhibit	12801267, 16033070, 8202473
Neoplasms	Stimulate	17649818, 21470957, 22996917, 23802180, 26867770
Neuroblastoma	Associate	35563171
Neuronal Ceroid Lipofuscinoses	Associate	14655761, 16518810, 26448324, 29036611
Neutropenia Nonimmune Chronic Idiopathic Adult	Associate	31841566
Niemann Pick Disease Type C	Associate	36608914
Osteoarthritis	Stimulate	35406699
Osteoarthritis	Associate	37853066
Osteoglophonic dwarfism	Stimulate	32519067
Osteoporosis	Associate	35937806
Osteosarcoma	Associate	26203049
Ovarian Diseases	Associate	20385381
Ovarian Neoplasms	Associate	10631462, 18657225
Pancreatic Neoplasms	Associate	16215274
Pancreatic Neoplasms	Stimulate	17496331
Pancreatitis Chronic	Stimulate	17496331
Parkinson Disease	Associate	24152121, 25617759, 26448324, 29140481, 36233303
Parkinson Disease	Inhibit	29948939
Plaque Amyloid	Associate	36448495
Prostatic Neoplasms	Associate	20132547, 21470957, 30216634, 32421745
Prostatitis	Associate	22996917
Pulmonary Disease Chronic Obstructive	Associate	22852767, 27084846, 39456887
Radial Neuropathy	Associate	33766512
Renal Insufficiency	Stimulate	31797504
Retinal Drusen	Associate	32815311
Retinal Perforations	Associate	37530283
Retinitis Pigmentosa	Associate	34070492
Sarcoma Ewing	Associate	36478349
Sick Sinus Syndrome	Associate	2296271, 8666688, 9701723
Sjogren's Syndrome	Associate	11092531
Sjogren's Syndrome	Stimulate	20617533
Squamous Cell Carcinoma of Head and Neck	Associate	11820719, 17399918, 39343784
Stomach Neoplasms	Associate	28423550
Tachycardia Atrioventricular Nodal Reentry	Stimulate	17649818
Tauopathies	Associate	26936765
Tertiary Lymphoid Structures	Associate	21789704
Triple Negative Breast Neoplasms	Associate	27502396, 30884823
Ventricular Remodeling	Associate	35210034