HSPD1 (heat shock protein family D (Hsp60) member 1)

Gene

• Entrez ID: 3329
• Gene name: Heat shock protein family D (Hsp60) member 1
• Gene symbol: HSPD1
• Synonyms (NCBI Gene): CPN60, GROEL, HLD4, HSP-60, HSP60, HSP65, HuCHA60, SPG13
• Disease Acronyms (UniProt): HLD4, SPG13
• Chromosome: 2
• Chromosome location: 2q33.1
• Summary: This gene encodes a member of the chaperonin family. The encoded mitochondrial protein may function as a signaling molecule in the innate immune system. This protein is essential for the folding and assembly of newly imported proteins in the mitochondria.

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs61755731	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs66468541	C>T	Pathogenic	Coding sequence variant, missense variant
rs863224042	T>C	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT003976	hsa-miR-1-3p	Luciferase reporter assay	17715156
MIRT003976	hsa-miR-1-3p	Luciferase reporter assay	17715156
MIRT003976	hsa-miR-1-3p	Luciferase reporter assay	17715156
MIRT003976	hsa-miR-1-3p	Luciferase reporter assay	17715156
MIRT003976	hsa-miR-1-3p	Review	19815577
MIRT003976	hsa-miR-1-3p	Luciferase reporter assay	23226300
MIRT003976	hsa-miR-1-3p	Proteomics	18668040
MIRT024960	hsa-miR-214-3p	Microarray;Other	19859982
MIRT031799	hsa-miR-16-5p	Proteomics	18668040
MIRT048142	hsa-miR-197-3p	CLASH	23622248
MIRT045988	hsa-miR-125b-5p	CLASH	23622248
MIRT043359	hsa-miR-331-3p	CLASH	23622248
MIRT043032	hsa-miR-324-5p	CLASH	23622248
MIRT037397	hsa-miR-744-5p	CLASH	23622248
MIRT037397	hsa-miR-744-5p	CLASH	23622248
MIRT618514	hsa-miR-5003-3p	HITS-CLIP	23824327
MIRT618513	hsa-miR-6513-3p	HITS-CLIP	23824327
MIRT618512	hsa-miR-3607-5p	HITS-CLIP	23824327
MIRT618511	hsa-miR-4513	HITS-CLIP	23824327
MIRT618510	hsa-miR-6855-3p	HITS-CLIP	23824327
MIRT618509	hsa-miR-6857-3p	HITS-CLIP	23824327
MIRT618508	hsa-miR-3167	HITS-CLIP	23824327
MIRT618507	hsa-miR-876-5p	HITS-CLIP	23824327
MIRT618506	hsa-miR-134-5p	HITS-CLIP	23824327
MIRT618505	hsa-miR-3118	HITS-CLIP	23824327
MIRT618504	hsa-miR-1297	HITS-CLIP	23824327
MIRT618503	hsa-miR-26a-5p	HITS-CLIP	23824327
MIRT618502	hsa-miR-26b-5p	HITS-CLIP	23824327
MIRT618501	hsa-miR-4465	HITS-CLIP	23824327
MIRT618500	hsa-miR-6516-3p	HITS-CLIP	23824327
MIRT618499	hsa-miR-3136-5p	HITS-CLIP	23824327
MIRT618498	hsa-miR-4439	HITS-CLIP	23824327
MIRT618497	hsa-miR-498	HITS-CLIP	23824327
MIRT618496	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT618514	hsa-miR-5003-3p	HITS-CLIP	23824327
MIRT618513	hsa-miR-6513-3p	HITS-CLIP	23824327
MIRT618512	hsa-miR-3607-5p	HITS-CLIP	23824327
MIRT618511	hsa-miR-4513	HITS-CLIP	23824327
MIRT618510	hsa-miR-6855-3p	HITS-CLIP	23824327
MIRT618509	hsa-miR-6857-3p	HITS-CLIP	23824327
MIRT618508	hsa-miR-3167	HITS-CLIP	23824327
MIRT618507	hsa-miR-876-5p	HITS-CLIP	23824327
MIRT618506	hsa-miR-134-5p	HITS-CLIP	23824327
MIRT618505	hsa-miR-3118	HITS-CLIP	23824327
MIRT618504	hsa-miR-1297	HITS-CLIP	23824327
MIRT618503	hsa-miR-26a-5p	HITS-CLIP	23824327
MIRT618502	hsa-miR-26b-5p	HITS-CLIP	23824327
MIRT618501	hsa-miR-4465	HITS-CLIP	23824327
MIRT618500	hsa-miR-6516-3p	HITS-CLIP	23824327
MIRT618499	hsa-miR-3136-5p	HITS-CLIP	23824327
MIRT618498	hsa-miR-4439	HITS-CLIP	23824327
MIRT618497	hsa-miR-498	HITS-CLIP	23824327
MIRT618496	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT1056700	hsa-miR-1229	CLIP-seq
MIRT1056701	hsa-miR-1245	CLIP-seq
MIRT1056702	hsa-miR-1261	CLIP-seq
MIRT1056703	hsa-miR-128	CLIP-seq
MIRT1056704	hsa-miR-141	CLIP-seq
MIRT1056705	hsa-miR-1587	CLIP-seq
MIRT1056706	hsa-miR-200a	CLIP-seq
MIRT1056707	hsa-miR-2277-3p	CLIP-seq
MIRT1056708	hsa-miR-27a	CLIP-seq
MIRT1056709	hsa-miR-27b	CLIP-seq
MIRT1056710	hsa-miR-3137	CLIP-seq
MIRT1056711	hsa-miR-3157-5p	CLIP-seq
MIRT1056712	hsa-miR-3189-3p	CLIP-seq
MIRT1056713	hsa-miR-3194-5p	CLIP-seq
MIRT1056714	hsa-miR-323b-5p	CLIP-seq
MIRT1056715	hsa-miR-3622b-5p	CLIP-seq
MIRT1056716	hsa-miR-3682-5p	CLIP-seq
MIRT1056717	hsa-miR-3915	CLIP-seq
MIRT1056718	hsa-miR-3928	CLIP-seq
MIRT1056719	hsa-miR-4312	CLIP-seq
MIRT1056720	hsa-miR-4421	CLIP-seq
MIRT1056721	hsa-miR-4528	CLIP-seq
MIRT1056722	hsa-miR-4639-3p	CLIP-seq
MIRT1056723	hsa-miR-4674	CLIP-seq
MIRT1056724	hsa-miR-4684-5p	CLIP-seq
MIRT1056725	hsa-miR-4691-3p	CLIP-seq
MIRT1056726	hsa-miR-4710	CLIP-seq
MIRT1056727	hsa-miR-4731-3p	CLIP-seq
MIRT1056728	hsa-miR-4792	CLIP-seq
MIRT1056729	hsa-miR-4801	CLIP-seq
MIRT1056730	hsa-miR-505	CLIP-seq
MIRT1056731	hsa-miR-516a-3p	CLIP-seq
MIRT1056732	hsa-miR-548m	CLIP-seq
MIRT1056733	hsa-miR-635	CLIP-seq
MIRT1056734	hsa-miR-942	CLIP-seq
MIRT1056735	hsa-miR-944	CLIP-seq
MIRT1056736	hsa-miR-1	CLIP-seq
MIRT1056700	hsa-miR-1229	CLIP-seq
MIRT1056737	hsa-miR-1244	CLIP-seq
MIRT1056701	hsa-miR-1245	CLIP-seq
MIRT1056702	hsa-miR-1261	CLIP-seq
MIRT1056703	hsa-miR-128	CLIP-seq
MIRT1056704	hsa-miR-141	CLIP-seq
MIRT1056705	hsa-miR-1587	CLIP-seq
MIRT1056738	hsa-miR-1912	CLIP-seq
MIRT1056706	hsa-miR-200a	CLIP-seq
MIRT1056739	hsa-miR-206	CLIP-seq
MIRT1056707	hsa-miR-2277-3p	CLIP-seq
MIRT1056708	hsa-miR-27a	CLIP-seq
MIRT1056709	hsa-miR-27b	CLIP-seq
MIRT1056740	hsa-miR-31	CLIP-seq
MIRT1056741	hsa-miR-3130-5p	CLIP-seq
MIRT1056710	hsa-miR-3137	CLIP-seq
MIRT1056711	hsa-miR-3157-5p	CLIP-seq
MIRT1056712	hsa-miR-3189-3p	CLIP-seq
MIRT1056713	hsa-miR-3194-5p	CLIP-seq
MIRT1056742	hsa-miR-323-5p	CLIP-seq
MIRT1056714	hsa-miR-323b-5p	CLIP-seq
MIRT1056715	hsa-miR-3622b-5p	CLIP-seq
MIRT1056716	hsa-miR-3682-5p	CLIP-seq
MIRT1056743	hsa-miR-3688-5p	CLIP-seq
MIRT1056717	hsa-miR-3915	CLIP-seq
MIRT1056744	hsa-miR-3921	CLIP-seq
MIRT1056718	hsa-miR-3928	CLIP-seq
MIRT1056745	hsa-miR-3941	CLIP-seq
MIRT1056746	hsa-miR-4299	CLIP-seq
MIRT1056747	hsa-miR-4307	CLIP-seq
MIRT1056719	hsa-miR-4312	CLIP-seq
MIRT1056720	hsa-miR-4421	CLIP-seq
MIRT1056748	hsa-miR-4456	CLIP-seq
MIRT1056749	hsa-miR-4482	CLIP-seq
MIRT1056721	hsa-miR-4528	CLIP-seq
MIRT1056722	hsa-miR-4639-3p	CLIP-seq
MIRT1056750	hsa-miR-4653-5p	CLIP-seq
MIRT1056751	hsa-miR-4659a-3p	CLIP-seq
MIRT1056752	hsa-miR-4659b-3p	CLIP-seq
MIRT1056753	hsa-miR-466	CLIP-seq
MIRT1056754	hsa-miR-4668-3p	CLIP-seq
MIRT1056755	hsa-miR-4670-3p	CLIP-seq
MIRT1056756	hsa-miR-4672	CLIP-seq
MIRT1056723	hsa-miR-4674	CLIP-seq
MIRT1056724	hsa-miR-4684-5p	CLIP-seq
MIRT1056725	hsa-miR-4691-3p	CLIP-seq
MIRT1056726	hsa-miR-4710	CLIP-seq
MIRT1056757	hsa-miR-4720-3p	CLIP-seq
MIRT1056727	hsa-miR-4731-3p	CLIP-seq
MIRT1056728	hsa-miR-4792	CLIP-seq
MIRT1056729	hsa-miR-4801	CLIP-seq
MIRT1056758	hsa-miR-4802-3p	CLIP-seq
MIRT1056759	hsa-miR-4804-3p	CLIP-seq
MIRT1056760	hsa-miR-488	CLIP-seq
MIRT1056730	hsa-miR-505	CLIP-seq
MIRT1056761	hsa-miR-515-5p	CLIP-seq
MIRT1056731	hsa-miR-516a-3p	CLIP-seq
MIRT1056762	hsa-miR-548c-3p	CLIP-seq
MIRT1056763	hsa-miR-548q	CLIP-seq
MIRT1056764	hsa-miR-556-3p	CLIP-seq
MIRT1056765	hsa-miR-579	CLIP-seq
MIRT1056766	hsa-miR-613	CLIP-seq
MIRT1056767	hsa-miR-617	CLIP-seq
MIRT1056733	hsa-miR-635	CLIP-seq
MIRT1056768	hsa-miR-643	CLIP-seq
MIRT1056769	hsa-miR-760	CLIP-seq
MIRT1056770	hsa-miR-873	CLIP-seq
MIRT1056771	hsa-miR-876-3p	CLIP-seq
MIRT1056734	hsa-miR-942	CLIP-seq
MIRT1056735	hsa-miR-944	CLIP-seq
MIRT1056736	hsa-miR-1	CLIP-seq
MIRT1056700	hsa-miR-1229	CLIP-seq
MIRT1056701	hsa-miR-1245	CLIP-seq
MIRT1056702	hsa-miR-1261	CLIP-seq
MIRT1056703	hsa-miR-128	CLIP-seq
MIRT1056704	hsa-miR-141	CLIP-seq
MIRT1056705	hsa-miR-1587	CLIP-seq
MIRT1056738	hsa-miR-1912	CLIP-seq
MIRT1056706	hsa-miR-200a	CLIP-seq
MIRT1056739	hsa-miR-206	CLIP-seq
MIRT1056707	hsa-miR-2277-3p	CLIP-seq
MIRT1056708	hsa-miR-27a	CLIP-seq
MIRT1056709	hsa-miR-27b	CLIP-seq
MIRT1056740	hsa-miR-31	CLIP-seq
MIRT1056741	hsa-miR-3130-5p	CLIP-seq
MIRT1056711	hsa-miR-3157-5p	CLIP-seq
MIRT1056712	hsa-miR-3189-3p	CLIP-seq
MIRT1056713	hsa-miR-3194-5p	CLIP-seq
MIRT1056742	hsa-miR-323-5p	CLIP-seq
MIRT1056714	hsa-miR-323b-5p	CLIP-seq
MIRT1056716	hsa-miR-3682-5p	CLIP-seq
MIRT1056743	hsa-miR-3688-5p	CLIP-seq
MIRT1056717	hsa-miR-3915	CLIP-seq
MIRT1056744	hsa-miR-3921	CLIP-seq
MIRT1056718	hsa-miR-3928	CLIP-seq
MIRT2012999	hsa-miR-4272	CLIP-seq
MIRT1056746	hsa-miR-4299	CLIP-seq
MIRT1056747	hsa-miR-4307	CLIP-seq
MIRT1056719	hsa-miR-4312	CLIP-seq
MIRT1056720	hsa-miR-4421	CLIP-seq
MIRT2013000	hsa-miR-4422	CLIP-seq
MIRT1056748	hsa-miR-4456	CLIP-seq
MIRT1056749	hsa-miR-4482	CLIP-seq
MIRT1056721	hsa-miR-4528	CLIP-seq
MIRT1056722	hsa-miR-4639-3p	CLIP-seq
MIRT1056750	hsa-miR-4653-5p	CLIP-seq
MIRT1056751	hsa-miR-4659a-3p	CLIP-seq
MIRT1056752	hsa-miR-4659b-3p	CLIP-seq
MIRT1056755	hsa-miR-4670-3p	CLIP-seq
MIRT1056723	hsa-miR-4674	CLIP-seq
MIRT1056725	hsa-miR-4691-3p	CLIP-seq
MIRT1056726	hsa-miR-4710	CLIP-seq
MIRT1056757	hsa-miR-4720-3p	CLIP-seq
MIRT1056728	hsa-miR-4792	CLIP-seq
MIRT1056759	hsa-miR-4804-3p	CLIP-seq
MIRT1056730	hsa-miR-505	CLIP-seq
MIRT1056761	hsa-miR-515-5p	CLIP-seq
MIRT1056731	hsa-miR-516a-3p	CLIP-seq
MIRT2013001	hsa-miR-548ag	CLIP-seq
MIRT2013002	hsa-miR-548ai	CLIP-seq
MIRT1056732	hsa-miR-548m	CLIP-seq
MIRT1056763	hsa-miR-548q	CLIP-seq
MIRT1056765	hsa-miR-579	CLIP-seq
MIRT1056766	hsa-miR-613	CLIP-seq
MIRT1056767	hsa-miR-617	CLIP-seq
MIRT1056733	hsa-miR-635	CLIP-seq
MIRT1056768	hsa-miR-643	CLIP-seq
MIRT1056770	hsa-miR-873	CLIP-seq
MIRT1056771	hsa-miR-876-3p	CLIP-seq
MIRT1056734	hsa-miR-942	CLIP-seq
MIRT1056735	hsa-miR-944	CLIP-seq
MIRT1056736	hsa-miR-1	CLIP-seq
MIRT1056700	hsa-miR-1229	CLIP-seq
MIRT1056701	hsa-miR-1245	CLIP-seq
MIRT1056702	hsa-miR-1261	CLIP-seq
MIRT1056703	hsa-miR-128	CLIP-seq
MIRT1056704	hsa-miR-141	CLIP-seq
MIRT1056705	hsa-miR-1587	CLIP-seq
MIRT1056738	hsa-miR-1912	CLIP-seq
MIRT1056706	hsa-miR-200a	CLIP-seq
MIRT1056739	hsa-miR-206	CLIP-seq
MIRT1056707	hsa-miR-2277-3p	CLIP-seq
MIRT1056708	hsa-miR-27a	CLIP-seq
MIRT1056709	hsa-miR-27b	CLIP-seq
MIRT1056740	hsa-miR-31	CLIP-seq
MIRT1056741	hsa-miR-3130-5p	CLIP-seq
MIRT1056710	hsa-miR-3137	CLIP-seq
MIRT1056711	hsa-miR-3157-5p	CLIP-seq
MIRT1056712	hsa-miR-3189-3p	CLIP-seq
MIRT1056713	hsa-miR-3194-5p	CLIP-seq
MIRT1056742	hsa-miR-323-5p	CLIP-seq
MIRT1056714	hsa-miR-323b-5p	CLIP-seq
MIRT1056715	hsa-miR-3622b-5p	CLIP-seq
MIRT1056716	hsa-miR-3682-5p	CLIP-seq
MIRT1056743	hsa-miR-3688-5p	CLIP-seq
MIRT2245294	hsa-miR-382	CLIP-seq
MIRT1056717	hsa-miR-3915	CLIP-seq
MIRT1056744	hsa-miR-3921	CLIP-seq
MIRT1056718	hsa-miR-3928	CLIP-seq
MIRT1056745	hsa-miR-3941	CLIP-seq
MIRT1056746	hsa-miR-4299	CLIP-seq
MIRT1056747	hsa-miR-4307	CLIP-seq
MIRT1056719	hsa-miR-4312	CLIP-seq
MIRT1056720	hsa-miR-4421	CLIP-seq
MIRT2013000	hsa-miR-4422	CLIP-seq
MIRT1056748	hsa-miR-4456	CLIP-seq
MIRT1056749	hsa-miR-4482	CLIP-seq
MIRT1056721	hsa-miR-4528	CLIP-seq
MIRT1056722	hsa-miR-4639-3p	CLIP-seq
MIRT1056750	hsa-miR-4653-5p	CLIP-seq
MIRT1056751	hsa-miR-4659a-3p	CLIP-seq
MIRT1056752	hsa-miR-4659b-3p	CLIP-seq
MIRT1056753	hsa-miR-466	CLIP-seq
MIRT1056754	hsa-miR-4668-3p	CLIP-seq
MIRT1056755	hsa-miR-4670-3p	CLIP-seq
MIRT1056756	hsa-miR-4672	CLIP-seq
MIRT1056723	hsa-miR-4674	CLIP-seq
MIRT1056724	hsa-miR-4684-5p	CLIP-seq
MIRT1056725	hsa-miR-4691-3p	CLIP-seq
MIRT1056726	hsa-miR-4710	CLIP-seq
MIRT1056757	hsa-miR-4720-3p	CLIP-seq
MIRT1056727	hsa-miR-4731-3p	CLIP-seq
MIRT1056728	hsa-miR-4792	CLIP-seq
MIRT1056729	hsa-miR-4801	CLIP-seq
MIRT1056758	hsa-miR-4802-3p	CLIP-seq
MIRT1056759	hsa-miR-4804-3p	CLIP-seq
MIRT1056760	hsa-miR-488	CLIP-seq
MIRT1056730	hsa-miR-505	CLIP-seq
MIRT1056761	hsa-miR-515-5p	CLIP-seq
MIRT1056731	hsa-miR-516a-3p	CLIP-seq
MIRT2013001	hsa-miR-548ag	CLIP-seq
MIRT2013002	hsa-miR-548ai	CLIP-seq
MIRT1056732	hsa-miR-548m	CLIP-seq
MIRT1056763	hsa-miR-548q	CLIP-seq
MIRT1056764	hsa-miR-556-3p	CLIP-seq
MIRT1056765	hsa-miR-579	CLIP-seq
MIRT1056766	hsa-miR-613	CLIP-seq
MIRT1056767	hsa-miR-617	CLIP-seq
MIRT1056733	hsa-miR-635	CLIP-seq
MIRT1056768	hsa-miR-643	CLIP-seq
MIRT1056769	hsa-miR-760	CLIP-seq
MIRT1056770	hsa-miR-873	CLIP-seq
MIRT1056771	hsa-miR-876-3p	CLIP-seq
MIRT1056734	hsa-miR-942	CLIP-seq
MIRT1056735	hsa-miR-944	CLIP-seq
MIRT1056742	hsa-miR-323-5p	CLIP-seq
MIRT1056743	hsa-miR-3688-5p	CLIP-seq
MIRT1056746	hsa-miR-4299	CLIP-seq
MIRT1056748	hsa-miR-4456	CLIP-seq
MIRT1056758	hsa-miR-4802-3p	CLIP-seq
MIRT1056759	hsa-miR-4804-3p	CLIP-seq
MIRT1056760	hsa-miR-488	CLIP-seq
MIRT1056730	hsa-miR-505	CLIP-seq
MIRT1056763	hsa-miR-548q	CLIP-seq
MIRT1056768	hsa-miR-643	CLIP-seq
MIRT1056769	hsa-miR-760	CLIP-seq
MIRT1056771	hsa-miR-876-3p	CLIP-seq
MIRT1056703	hsa-miR-128	CLIP-seq
MIRT1056708	hsa-miR-27a	CLIP-seq
MIRT1056709	hsa-miR-27b	CLIP-seq
MIRT2013000	hsa-miR-4422	CLIP-seq
MIRT2013001	hsa-miR-548ag	CLIP-seq
MIRT2013002	hsa-miR-548ai	CLIP-seq
MIRT1056732	hsa-miR-548m	CLIP-seq
MIRT1056703	hsa-miR-128	CLIP-seq
MIRT1056708	hsa-miR-27a	CLIP-seq
MIRT1056709	hsa-miR-27b	CLIP-seq
MIRT2013000	hsa-miR-4422	CLIP-seq
MIRT2013001	hsa-miR-548ag	CLIP-seq
MIRT2013002	hsa-miR-548ai	CLIP-seq
MIRT1056732	hsa-miR-548m	CLIP-seq
MIRT1056730	hsa-miR-505	CLIP-seq
MIRT1056730	hsa-miR-505	CLIP-seq
MIRT1056701	hsa-miR-1245	CLIP-seq
MIRT1056703	hsa-miR-128	CLIP-seq
MIRT1056704	hsa-miR-141	CLIP-seq
MIRT1056705	hsa-miR-1587	CLIP-seq
MIRT1056706	hsa-miR-200a	CLIP-seq
MIRT1056708	hsa-miR-27a	CLIP-seq
MIRT1056709	hsa-miR-27b	CLIP-seq
MIRT1056711	hsa-miR-3157-5p	CLIP-seq
MIRT1056712	hsa-miR-3189-3p	CLIP-seq
MIRT1056713	hsa-miR-3194-5p	CLIP-seq
MIRT1056717	hsa-miR-3915	CLIP-seq
MIRT1056744	hsa-miR-3921	CLIP-seq
MIRT1056718	hsa-miR-3928	CLIP-seq
MIRT1056719	hsa-miR-4312	CLIP-seq
MIRT1056720	hsa-miR-4421	CLIP-seq
MIRT2013000	hsa-miR-4422	CLIP-seq
MIRT1056750	hsa-miR-4653-5p	CLIP-seq
MIRT1056751	hsa-miR-4659a-3p	CLIP-seq
MIRT1056752	hsa-miR-4659b-3p	CLIP-seq
MIRT1056755	hsa-miR-4670-3p	CLIP-seq
MIRT1056723	hsa-miR-4674	CLIP-seq
MIRT1056725	hsa-miR-4691-3p	CLIP-seq
MIRT1056726	hsa-miR-4710	CLIP-seq
MIRT1056728	hsa-miR-4792	CLIP-seq
MIRT1056761	hsa-miR-515-5p	CLIP-seq
MIRT1056731	hsa-miR-516a-3p	CLIP-seq
MIRT2013001	hsa-miR-548ag	CLIP-seq
MIRT2013002	hsa-miR-548ai	CLIP-seq
MIRT1056732	hsa-miR-548m	CLIP-seq
MIRT1056765	hsa-miR-579	CLIP-seq
MIRT1056767	hsa-miR-617	CLIP-seq
MIRT1056733	hsa-miR-635	CLIP-seq
MIRT1056734	hsa-miR-942	CLIP-seq
MIRT1056701	hsa-miR-1245	CLIP-seq
MIRT1056703	hsa-miR-128	CLIP-seq
MIRT1056704	hsa-miR-141	CLIP-seq
MIRT1056705	hsa-miR-1587	CLIP-seq
MIRT1056706	hsa-miR-200a	CLIP-seq
MIRT1056708	hsa-miR-27a	CLIP-seq
MIRT1056709	hsa-miR-27b	CLIP-seq
MIRT1056711	hsa-miR-3157-5p	CLIP-seq
MIRT1056712	hsa-miR-3189-3p	CLIP-seq
MIRT1056713	hsa-miR-3194-5p	CLIP-seq
MIRT1056717	hsa-miR-3915	CLIP-seq
MIRT1056744	hsa-miR-3921	CLIP-seq
MIRT1056718	hsa-miR-3928	CLIP-seq
MIRT1056719	hsa-miR-4312	CLIP-seq
MIRT1056720	hsa-miR-4421	CLIP-seq
MIRT2013000	hsa-miR-4422	CLIP-seq
MIRT1056750	hsa-miR-4653-5p	CLIP-seq
MIRT1056751	hsa-miR-4659a-3p	CLIP-seq
MIRT1056752	hsa-miR-4659b-3p	CLIP-seq
MIRT1056755	hsa-miR-4670-3p	CLIP-seq
MIRT1056723	hsa-miR-4674	CLIP-seq
MIRT1056725	hsa-miR-4691-3p	CLIP-seq
MIRT1056726	hsa-miR-4710	CLIP-seq
MIRT1056728	hsa-miR-4792	CLIP-seq
MIRT1056761	hsa-miR-515-5p	CLIP-seq
MIRT1056731	hsa-miR-516a-3p	CLIP-seq
MIRT2013001	hsa-miR-548ag	CLIP-seq
MIRT2013002	hsa-miR-548ai	CLIP-seq
MIRT1056732	hsa-miR-548m	CLIP-seq
MIRT1056765	hsa-miR-579	CLIP-seq
MIRT1056767	hsa-miR-617	CLIP-seq
MIRT1056733	hsa-miR-635	CLIP-seq
MIRT1056734	hsa-miR-942	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
RUNX3	Repression	17956589

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001530	Function	Lipopolysaccharide binding	IDA	17164250
GO:0002039	Function	P53 binding	IPI	18086682
GO:0002755	Process	MyD88-dependent toll-like receptor signaling pathway	IDA	16148103
GO:0002842	Process	Positive regulation of T cell mediated immune response to tumor cell	IDA	10663613
GO:0003688	Function	DNA replication origin binding	ISS
GO:0003697	Function	Single-stranded DNA binding	ISS
GO:0003723	Function	RNA binding	HDA	22658674
GO:0003725	Function	Double-stranded RNA binding	IDA	21266579
GO:0005515	Function	Protein binding	IPI	15846844, 17823127, 18086682, 21516116, 21988832, 22664726, 23349634, 23840630, 24286120, 25416956, 25609649, 25910212, 26871637, 28514442, 29568061, 30021884, 31515488, 32296183, 32814053
GO:0005524	Function	ATP binding	IEA
GO:0005615	Component	Extracellular space	IDA	18229457
GO:0005737	Component	Cytoplasm	IDA	21328542
GO:0005739	Component	Mitochondrion	IDA	17823127, 18086682, 21245038
GO:0005743	Component	Mitochondrial inner membrane	IBA	21873635
GO:0005743	Component	Mitochondrial inner membrane	ISS
GO:0005759	Component	Mitochondrial matrix	IBA	21873635
GO:0005759	Component	Mitochondrial matrix	IDA	19393246, 24746669
GO:0005759	Component	Mitochondrial matrix	TAS	17823127
GO:0005769	Component	Early endosome	IDA	11807771
GO:0005829	Component	Cytosol	IDA	17823127, 18086682
GO:0005886	Component	Plasma membrane	IDA	11027668
GO:0005905	Component	Clathrin-coated pit	IDA	11807771
GO:0006357	Process	Regulation of transcription by RNA polymerase II	TAS
GO:0006457	Process	Protein folding	IBA	21873635
GO:0006458	Process	'de novo' protein folding	ISS
GO:0006919	Process	Activation of cysteine-type endopeptidase activity involved in apoptotic process	IDA	17823127
GO:0006986	Process	Response to unfolded protein	IDA	11050098
GO:0008035	Function	High-density lipoprotein particle binding	IDA	11027668
GO:0008637	Process	Apoptotic mitochondrial changes	IBA	21873635
GO:0009409	Process	Response to cold	ISS
GO:0009986	Component	Cell surface	IDA	9243807, 10663613, 11807771
GO:0016020	Component	Membrane	HDA	19946888
GO:0016032	Process	Viral process	IEA
GO:0016853	Function	Isomerase activity	IEA
GO:0016887	Function	ATPase activity	ISS
GO:0019899	Function	Enzyme binding	IPI	20507888
GO:0030135	Component	Coated vesicle	IDA	11807771
GO:0030141	Component	Secretory granule	ISS
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	19725078, 21753002
GO:0032727	Process	Positive regulation of interferon-alpha production	IBA	21873635
GO:0032727	Process	Positive regulation of interferon-alpha production	IDA	17164250
GO:0032729	Process	Positive regulation of interferon-gamma production	IBA	21873635
GO:0032729	Process	Positive regulation of interferon-gamma production	IDA	17164250
GO:0032729	Process	Positive regulation of interferon-gamma production	ISS
GO:0032733	Process	Positive regulation of interleukin-10 production	IDA	16148103
GO:0032735	Process	Positive regulation of interleukin-12 production	IDA	17164250
GO:0032755	Process	Positive regulation of interleukin-6 production	IBA	21873635
GO:0032755	Process	Positive regulation of interleukin-6 production	IDA	16148103
GO:0032991	Component	Protein-containing complex	IDA	21328542, 23349634
GO:0034185	Function	Apolipoprotein binding	IPI	11027668
GO:0034186	Function	Apolipoprotein A-I binding	IPI	11027668
GO:0034514	Process	Mitochondrial unfolded protein response	IBA	21873635
GO:0042026	Process	Protein refolding	IDA	11050098
GO:0042100	Process	B cell proliferation	IDA	16148103
GO:0042110	Process	T cell activation	IBA	21873635
GO:0042110	Process	T cell activation	IDA	15371451, 17164250, 18256040
GO:0042113	Process	B cell activation	IDA	16148103
GO:0043032	Process	Positive regulation of macrophage activation	IDA	17164250
GO:0043065	Process	Positive regulation of apoptotic process	IMP	17823127
GO:0043066	Process	Negative regulation of apoptotic process	IMP	17823127, 18086682
GO:0044406	Process	Adhesion of symbiont to host	IDA	20633027
GO:0045041	Process	Protein import into mitochondrial intermembrane space	IBA	21873635
GO:0046696	Component	Lipopolysaccharide receptor complex	IDA	17164250
GO:0048291	Process	Isotype switching to IgG isotypes	IDA	16148103
GO:0050821	Process	Protein stabilization	IMP	18086682
GO:0050821	Process	Protein stabilization	ISS
GO:0050870	Process	Positive regulation of T cell activation	IBA	21873635
GO:0050870	Process	Positive regulation of T cell activation	IDA	16148103, 17164250
GO:0050870	Process	Positive regulation of T cell activation	ISS
GO:0051082	Function	Unfolded protein binding	IC	11050098
GO:0051082	Function	Unfolded protein binding	ISS
GO:0051087	Function	Chaperone binding	IBA	21873635
GO:0051087	Function	Chaperone binding	IPI	10205158
GO:0051131	Process	Chaperone-mediated protein complex assembly	ISS
GO:0051604	Process	Protein maturation	ISS
GO:0051702	Process	Biological process involved in interaction with symbiont	IMP	20507888
GO:0070062	Component	Extracellular exosome	HDA	19056867, 20458337
GO:0070062	Component	Extracellular exosome	IDA	21276792

Other IDs

• MIM: 118190
• HGNC: 5261
• e!Ensembl: ENSG00000144381

Protein

• UniProt ID: P10809
• Protein name: 60 kDa heat shock protein, mitochondrial (EC 5.6.1.7) (60 kDa chaperonin) (Chaperonin 60) (CPN60) (Heat shock protein 60) (HSP-60) (Hsp60) (Heat shock protein family D member 1) (HuCHA60) (Mitochondrial matrix protein P1) (P60 lymphocyte protein)
• Protein function: Chaperonin implicated in mitochondrial protein import and macromolecular assembly. Together with Hsp10, facilitates the correct folding of imported proteins. May also prevent misfolding and promote the refolding and proper assembly of unfolded p
• PDB: 4PJ1, 6HT7, 6MRC, 6MRD, 7AZP, 7L7S, 8G7J, 8G7K, 8G7L, 8G7M, 8G7N, 8G7O, 8U39
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00118	Cpn60_TCP1	47 → 550	TCP-1/cpn60 chaperonin family	Family

• Sequence:

  MLRLPTVFRQMRPVSRVLAPHLTRAYAKDVKFGADARALMLQGVDLLADAVAVTMGPKGR
  TVIIEQSWGSPKVTKDGVTVAKSIDLKDKYKNIGAKLVQDVANNTNEEAGDGTTTATVLA
  RSIAKEGFEKISKGANPVEIRRGVMLAVDAVIAELKKQSKPVTTPEEIAQVATISANGDK
  EIGNIISDAMKKVGRKGVITVKDGKTLNDELEIIEGMKFDRGYISPYFINTSKGQKCEFQ
  DAYVLLSEKKISSIQSIVPALEIANAHRKPLVIIAEDVDGEALSTLVLNRLKVGLQVVAV
  KAPGFGDNRKNQLKDMAIATGGAVFGEEGLTLNLEDVQPHDLGKVGEVIVTKDDAMLLKG
  KGDKAQIEKRIQEIIEQLDVTTSEYEKEKLNERLAKLSDGVAVLKVGGTSDVEVNEKKDR
  VTDALNATRAAVEEGIVLGGGCALLRCIPALDSLTPANEDQKIGIEIIKRTLKIPAMTIA
  KNAGVEGSLIVEKIMQSSSEVGYDAMAGDFVNMVEKGIIDPTKVVRTALLDAAGVASLLT
  TAEVVVTEIPKEEKDPGMGAMGGMGGGMGGGMF

• Sequence length: 573

Pathways

KEGG:

RNA degradation
Type I diabetes mellitus
Legionellosis
Tuberculosis
Lipid and atherosclerosis

Reactome:

Mitochondrial protein import
TFAP2A acts as a transcriptional repressor during retinoic acid induced cell differentiation

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Adenocarcinoma	Adenocarcinoma, Adenocarcinoma, Basal Cell, Adenocarcinoma, Oxyphilic, Adenocarcinoma, Tubular	rs121913530, rs886039394, rs121913474	15378696
Carcinoma	Carcinoma, Cribriform, Carcinoma, Granular Cell	rs121912654, rs555607708, rs786202962, rs1564055259	15378696
Cardiomyopathy	Cardiomyopathies, Primary, Cardiomyopathies	rs267607003, rs267607002, rs267607004, rs63750743, rs121908333, rs121908334, rs104894655, rs121434420, rs121434421, rs193922674, rs111517471, rs121908987, rs193922384, rs121909374, rs121909377, rs2856655, rs587776700, rs387906397, rs137854607, rs28935197, rs199473684, rs121964858, rs74315379, rs74315380, rs104894724, rs104894727, rs104894728, rs104894729, rs104894730, rs121917760, rs267607125, rs104894503, rs267607155, rs267607156, rs121918597, rs121918600, rs28933979, rs121918070, rs76992529, rs111033559, rs111033560, rs104894368, rs104894369, rs104894370, rs121913624, rs3218713, rs121913625, rs121913626, rs121913627, rs121913628, rs121913629, rs121913630, rs121913631, rs121913632, rs3218714, rs121913637, rs121913638, rs121913641, rs121913642, rs121913651, rs267606911, rs267606908, rs730880850, rs61046466, rs57520892, rs28933091, rs28933092, rs28933093, rs121913008, rs121913003, rs121912996, rs121912997, rs193922680, rs387906875, rs199474703, rs199476315, rs199476316, rs199476317, rs199476321, rs199476311, rs193922683, rs193922668, rs386134243, rs267607578, rs36211723, rs193922390, rs193922672, rs193922697, rs387907267, rs45546039, rs387907218, rs397515870, rs397515893, rs397515894, rs397515903, rs397515905, rs375882485, rs397515907, rs397515912, rs397515916, rs397515925, rs397515926, rs397515934, rs397515937, rs397515943, rs397515944, rs397515947, rs397515954, rs112738974, rs111729952, rs397515960, rs397515963, rs397515973, rs397515974, rs397515977, rs376395543, rs397515979, rs397515982, rs397515990, rs397515991, rs397515992, rs397516005, rs113358486, rs397516006, rs397516007, rs397516008, rs373746463, rs397516019, rs397516023, rs397516029, rs397516031, rs397516037, rs397516040, rs397516042, rs397516044, rs397516049, rs397516057, rs397516059, rs397516068, rs397516070, rs397516072, rs397516073, rs397516074, rs397516076, rs397516077, rs397516080, rs397516082, rs397516083, rs397516088, rs397516089, rs397516103, rs397516123, rs397516127, rs371898076, rs397516132, rs397516142, rs3218716, rs397516154, rs397516161, rs397516165, rs397516170, rs397516178, rs397516179, rs397516187, rs397516201, rs397516202, rs145213771, rs397516207, rs397516209, rs397516212, rs397516248, rs397516252, rs397516254, rs397516258, rs397516260, rs45516091, rs397516264, rs397516269, rs397516347, rs397516349, rs397516352, rs397516353, rs397516355, rs397516356, rs397516357, rs397516364, rs397516370, rs397516371, rs397516373, rs397516386, rs397516406, rs397516454, rs397516456, rs397516461, rs397516463, rs397516464, rs45525839, rs397516471, rs45578238, rs111377893, rs397516607, rs62636495, rs397516784, rs397516881, rs397516913, rs397516915, rs397516927, rs397516940, rs397516943, rs397516945, rs397516955, rs397516956, rs397516973, rs397516986, rs397516989, rs372827156, rs397516992, rs397516993, rs397516994, rs397516997, rs397517003, rs397517008, rs397517010, rs397517012, rs397517021, rs397517065, rs397517547, rs397517576, rs397517580, rs397517584, rs397517586, rs397517587, rs397517589, rs397517601, rs397517620, rs397517624, rs397517626, rs397517628, rs72646831, rs397517633, rs397517643, rs72646846, rs397517664, rs397517679, rs397517689, rs397517695, rs397517696, rs397517698, rs397517721, rs397517735, rs397517741, rs397517749, rs397517750, rs397517758, rs397517776, rs397517787, rs397517830, rs397517887, rs397517888, rs397517889, rs58013325, rs397517895, rs56984562, rs267607646, rs58917027, rs267607594, rs397517904, rs61195471, rs60682848, rs267607573, rs397517908, rs58978449, rs397517909, rs267607593, rs397517911, rs56816490, rs397517915, rs267607554, rs397514742, rs886041395, rs397515482, rs267607490, rs58999456, rs267607555, rs61672878, rs267607618, rs267607577, rs57730570, rs267607582, rs267607581, rs61444459, rs59270054, rs61661343, rs267607570, rs59026483, rs267607571, rs59332535, rs199473161, rs398123262, rs869320740, rs606231324, rs587782927, rs201754030, rs58389804, rs587782958, rs587782961, rs587782962, rs587782986, rs138049878, rs376897125, rs368765949, rs111569862, rs727504247, rs727503537, rs727504535, rs727504550, rs727504679, rs727503546, rs730880365, rs727504646, rs727505014, rs727505288, rs727503557, rs727503559, rs730880343, rs727503615, rs727504825, rs727503565, rs727504655, rs727505352, rs727504466, rs727504531, rs727503567, rs371678190, rs727503586, rs727505319, rs727503547, rs727505076, rs727505224, rs727503552, rs727504856, rs727504782, rs727504660, rs557312035, rs727505284, rs727504851, rs727504589, rs727504499, rs727504843, rs727504452, rs727503697, rs150974575, rs727504498, rs727503598, rs727503602, rs727503607, rs727504801, rs727504738, rs727505115, rs727505283, rs727505109, rs727504271, rs727504321, rs727504289, rs727503172, rs727503180, rs727503182, rs727504265, rs727504334, rs727503192, rs397515932, rs727504287, rs200411226, rs727503204, rs727504269, rs367947846, rs730880335, rs727502897, rs727503166, rs111683277, rs727503195, rs727503203, rs727503212, rs727503738, rs727504381, rs727504356, rs727503261, rs727504238, rs148808089, rs45544633, rs727503246, rs397516171, rs727503253, rs202141173, rs727504310, rs727503258, rs727503260, rs727504320, rs727504240, rs727503263, rs727503269, rs727503278, rs727504432, rs727504243, rs727504285, rs727503499, rs727503504, rs727504242, rs727504379, rs727504389, rs727504275, rs727504557, rs727502994, rs727504184, rs730880336, rs730880362, rs730880199, rs730880246, rs72648265, rs730880243, rs730880242, rs730880241, rs574660186, rs730880245, rs730880082, rs730880092, rs730880093, rs730880055, rs397515939, rs730881119, rs397516020, rs730880675, rs730880719, rs730880672, rs730880671, rs730880718, rs730880666, rs730880717, rs730880655, rs730880715, rs730880654, rs730880714, rs730880651, rs730880648, rs730880713, rs730880546, rs730880695, rs730880533, rs730880531, rs730880639, rs730880689, rs730880686, rs730880629, rs368121566, rs375607980, rs730880704, rs730880698, rs730880750, rs730880748, rs730880875, rs730880845, rs1565623093, rs786204339, rs786204336, rs786204392, rs786204388, rs786204950, rs786204951, rs794727381, rs760576804, rs112188483, rs794728597, rs794728606, rs794728593, rs59564495, rs190140598, rs794728826, rs794728803, rs794728106, rs149701627, rs1554108152, rs770873593, rs794728124, rs141026028, rs794728094, rs794729098, rs794729116, rs764817683, rs751288871, rs201405287, rs794729137, rs794729133, rs766209297, rs767987619, rs769220833, rs794729120, rs112240298, rs748382770, rs794729365, rs794729301, rs757451467, rs794729359, rs794729354, rs794729353, rs794729285, rs794729284, rs794729338, rs794729332, rs368452607, rs794729278, rs794729325, rs794729324, rs754866489, rs794729265, rs751502842, rs794729320, rs794729380, rs748313513, rs797046064, rs863225113, rs863225106, rs761507504, rs864622224, rs1057515421, rs751039219, rs869025555, rs869025546, rs869025554, rs869025559, rs869025545, rs869025558, rs869025557, rs200797552, rs869025550, rs869025549, rs869025544, rs869025552, rs869025548, rs869025556, rs770029258, rs869025523, rs869025398, rs869025399, rs869025395, rs869025365, rs869025469, rs869025483, rs749838192, rs869312028, rs869312037, rs869312038, rs869312039, rs869312040, rs869312041, rs869312042, rs869312044, rs869312046, rs373040154, rs869312047, rs869312048, rs869312049, rs869312050, rs869312051, rs869312052, rs869312054, rs869312055, rs777602537, rs869312056, rs869312057, rs869312058, rs869312059, rs869312060, rs770038577, rs869312061, rs869312062, rs869312063, rs869312064, rs869312065, rs869312066, rs869312067, rs869312068, rs869312069, rs771562210, rs869312070, rs869312071, rs759231562, rs869312072, rs869312073, rs764243269, rs768345594, rs869312074, rs869312075, rs869312076, rs869312077, rs869312078, rs869312079, rs869312080, rs772121356, rs869312081, rs869312082, rs72648250, rs869312083, rs869312084, rs869312085, rs869312086, rs869312087, rs869312100, rs779129892, rs756367933, rs869312102, rs869312103, rs869312104, rs869312105, rs869312106, rs770767998, rs869312107, rs775186117, rs869312108, rs869312109, rs869312110, rs869312111, rs755261062, rs869312112, rs763824247, rs869312113, rs869312114, rs869312115, rs869312116, rs774604740, rs869312117, rs779996703, rs869312118, rs869312119, rs869312120, rs869312121, rs869312122, rs869312045, rs753948675, rs878854371, rs794728589, rs876657650, rs727503512, rs876658027, rs876657672, rs876657671, rs868494032, rs876657670, rs780512337, rs876657669, rs876657668, rs876657666, rs876657665, rs876657664, rs876657663, rs148894066, rs876657634, rs869248137, rs876657705, rs876657704, rs727503213, rs869025496, rs876657662, rs876657884, rs36211715, rs878855234, rs879255521, rs879255639, rs886038928, rs751746401, rs886039030, rs869038795, rs886039343, rs2069544, rs1114167341, rs1114167340, rs886041322, rs886042331, rs886043718, rs747662439, rs886043924, rs773840992, rs886044536, rs1057517903, rs754354190, rs779650200, rs902082118, rs1057518920, rs1057519457, rs1057523045, rs370072439, rs1064792916, rs1060500495, rs1060500575, rs926741242, rs774763657, rs746877365, rs1060500610, rs1060501484, rs1060501479, rs1064792928, rs1060501443, rs1060499604, rs1064793814, rs1064796347, rs977277400, rs1064793429, rs745811346, rs1064794350, rs1555142963, rs1064793983, rs769665204, rs751261054, rs769139957, rs1131691873, rs1131691655, rs1131691673, rs1464253797, rs1408345511, rs1553603152, rs1554398705, rs1322596650, rs1553539995, rs1553611989, rs749961489, rs1444727212, rs1243301263, rs971618751, rs1553662326, rs1389777522, rs764985774, rs1554108287, rs1554105911, rs1249913357, rs1554108012, rs111806457, rs1402879259, rs748416758, rs794727046, rs1425855043, rs869178171, rs1432810664, rs749465164, rs878898365, rs1419374180, rs770878165, rs1553503113, rs1553691320, rs1553577362, rs1553603456, rs1417036453, rs1553741321, rs1553479603, rs1553607425, rs974671846, rs1420159591, rs745688425, rs1554875409, rs1555144459, rs1555338080, rs1555338574, rs1555148035, rs200889953, rs1401116572, rs1285329277, rs974510652, rs1263987728, rs1555122928, rs992189342, rs1555142971, rs1553261855, rs1553265647, rs1553488049, rs1553644307, rs1553663867, rs1553940122, rs28763965, rs758891557, rs762110595, rs1555436118, rs1555435531, rs565910322, rs376766195, rs1562168768, rs763443331, rs1562169661, rs1370579526, rs1561703922, rs1564773559, rs1559003939, rs1559598775, rs1559415567, rs1559877046, rs776970935, rs553526525, rs1561698362, rs1561694696, rs1561702640, rs730880751, rs1060505018, rs766330686, rs1565631430, rs1565050320, rs876657767, rs1565053085, rs1565053147, rs1557778277, rs1557776329, rs886039136, rs771262904, rs727504314, rs1563000044, rs541612157, rs766265889, rs1558988204, rs1559051231, rs1559262463, rs1559448864, rs1559469421, rs1559556267, rs1559746821, rs1559873786, rs1561323791, rs1561445221, rs1561686893, rs1561698714, rs1561702549, rs1565623439, rs1565623713, rs1565626367, rs1565627110, rs1565627145, rs397515889, rs1565628520, rs774316050, rs1592798444, rs1565590309, rs1566967399, rs1569552936, rs1559712733, rs1561690319, rs1561701721, rs869125101, rs1595843553, rs1576018303, rs746115846, rs777315336, rs1431206462, rs1572358674, rs1477669354, rs1575584918, rs1575614351, rs72648222, rs1575799625, rs1576014673, rs1576147786, rs747469275, rs1581805658, rs1227662860, rs1585169831, rs1592729525, rs762753884, rs1596155145, rs1572358821, rs991187915, rs1575649368, rs1060500562, rs1450218521, rs775256998, rs1572332762, rs1571627006, rs1575253896, rs1575616801, rs1575775337, rs1575948935, rs1574083547, rs1574087037, rs1589632398, rs1585171818, rs1603365762, rs768079285, rs1575663327, rs1575796530, rs1574659116, rs267607001, rs1567093598, rs1572359848, rs1060500505, rs1575512482, rs1575872984, rs1161735211, rs1576141328, rs906494713, rs1576685753, rs1266489077, rs1581813564, rs778808038, rs397516363, rs1596386673, rs1575610911, rs727503266, rs1603377936, rs777702465, rs1708504899, rs2054381012, rs1575285509, rs1695435412, rs1699247877, rs879139686, rs2060187635, rs761380979, rs1464886350, rs1956192035, rs752522753, rs1205836993, rs2095894178	12967636
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Gastric cancer	Hereditary Diffuse Gastric Cancer	rs137854571, rs63751108, rs34612342, rs121908383, rs121909144, rs121909775, rs121909219, rs121909223, rs63750871, rs80359530, rs121964873, rs121913530, rs606231203, rs121918505, rs587776802, rs28933369, rs121912469, rs80358011, rs397507262, rs80359439, rs397507333, rs80359543, rs80358831, rs80359596, rs80358920, rs80358972, rs80359659, rs397507404, rs397514661, rs80359516, rs200495564, rs80358419, rs80359274, rs80359283, rs80358427, rs80358428, rs80358435, rs81002805, rs397507660, rs397507663, rs80359391, rs80359443, rs81002797, rs80359466, rs397507752, rs80359484, rs80359603, rs397507954, rs80359058, rs80359071, rs397507981, rs80359121, rs80357086, rs80357064, rs397508936, rs80357695, rs80357661, rs397509035, rs80357544, rs80357577, rs80357881, rs80357296, rs80356923, rs80356866, rs80357504, rs80357390, rs80357239, rs80358099, rs397509284, rs80357258, rs199474738, rs199474747, rs587779204, rs63750439, rs267608076, rs587779246, rs63749999, rs267608078, rs63751327, rs267607719, rs267607734, rs63750706, rs63751711, rs587779047, rs587779075, rs267607949, rs63750633, rs63750803, rs63751618, rs267608154, rs200640585, rs80358018, rs80357857, rs80357882, rs180177103, rs587779815, rs587779865, rs587779872, rs587780059, rs121912666, rs587780088, rs587780104, rs200432447, rs180177100, rs587780226, rs587780784, rs587776416, rs587781276, rs587781629, rs587781694, rs587781727, rs587781730, rs587781807, rs587781894, rs587781948, rs121913344, rs587782292, rs587782350, rs587782558, rs587782719, rs587782885, rs587783057, rs730881833, rs730881411, rs730881336, rs139770721, rs730881869, rs730881633, rs730882007, rs786203115, rs765123255, rs1553333738, rs762083530, rs786202800, rs17174393, rs55996097, rs750621215, rs786203451, rs747604569, rs764389018, rs786204433, rs786204862, rs772821016, rs779582317, rs863225406, rs193922343, rs759965045, rs63749919, rs760228510, rs746481984, rs762307622, rs876659736, rs876660933, rs747727055, rs1450394308, rs876658348, rs876658431, rs876659326, rs876660444, rs730881369, rs878853865, rs753862052, rs587780024, rs138941496, rs886040739, rs886040744, rs886040347, rs878854957, rs886040123, rs398122662, rs886040942, rs1057517104, rs1057516320, rs1057516683, rs879254046, rs1057517253, rs587781927, rs985033810, rs1057519989, rs775464903, rs374230313, rs758304323, rs1060501599, rs758081262, rs1060500126, rs1060502734, rs587776408, rs1060501695, rs1114167816, rs1114167596, rs1114167667, rs1555460315, rs1135402788, rs1554086196, rs730881919, rs773356478, rs769237459, rs1553653158, rs587782087, rs1555107263, rs1555119940, rs1403784434, rs1342519012, rs751710099, rs1553616361, rs1553619721, rs1270783041, rs775036118, rs1555288557, rs1555460548, rs1555461154, rs1298667185, rs1553622218, rs63751101, rs1349928568, rs771936821, rs1021662947, rs1555921011, rs81002831, rs1555124506, rs1555574803, rs1060502716, rs1555605362, rs747057367, rs1565385010, rs1567554500, rs1567516230, rs1558644995, rs1555591308, rs778306619, rs1566231194, rs1603328466, rs1570406302, rs1586108714, rs768362387, rs1597713777, rs1060502926, rs1597867185, rs1591517571, rs1591663236, rs1593903006, rs1555284779, rs1597096243, rs45459799, rs1597360340, rs587781905, rs864622481, rs1601753141, rs1966858562, rs1966967065, rs1967016153, rs1967113484, rs2080473458, rs1591387978, rs1224428422, rs1597747184, rs2082309297, rs2051929740, rs147542208	19424620, 15378696
Hypertrophic cardiomyopathy	Hypertrophic Cardiomyopathy, Hypertrophic obstructive cardiomyopathy	rs63750743, rs104894655, rs121908987, rs587776643, rs28938173, rs121908989, rs121908991, rs267606977, rs267606978, rs193922384, rs121909374, rs886041030, rs886041031, rs121909375, rs121909377, rs2856655, rs587776700, rs387906397, rs104894204, rs121434470, rs104894828, rs121964855, rs121964856, rs121964858, rs74315380, rs104894724, rs104894725, rs104894727, rs104894728, rs104894729, rs104894730, rs267607127, rs2147283135, rs267607128, rs267607125, rs104894502, rs104894503, rs104894504, rs28933405, rs111033560, rs121434594, rs80338797, rs104893748, rs104894368, rs104894369, rs104894370, rs121913624, rs3218713, rs121913625, rs121913626, rs121913627, rs121913628, rs121913629, rs121913630, rs121913631, rs121913632, rs121913633, rs121913634, rs3218714, rs121913636, rs121913637, rs121913638, rs121913639, rs121913641, rs121913642, rs121913643, rs121913647, rs121913650, rs121913651, rs36211715, rs121913654, rs267606911, rs267606908, rs730880850, rs121912675, rs267606629, rs193922680, rs1600482909, rs387906898, rs199476398, rs387907079, rs199474815, rs199474703, rs199476305, rs199476306, rs199476315, rs199476316, rs199476317, rs199476321, rs199476311, rs193922649, rs36211723, rs187830361, rs193922383, rs193922386, rs193922390, rs193922697, rs387907267, rs397507520, rs727505017, rs397515888, rs397515889, rs397515891, rs397515893, rs397515894, rs397515895, rs397515896, rs397515897, rs397515903, rs397515905, rs375882485, rs397515907, rs397515910, rs397515912, rs397515916, rs397515920, rs397515925, rs397515926, rs397515931, rs397515933, rs397515934, rs397515935, rs397515937, rs397515942, rs397515943, rs397515944, rs397515947, rs397515948, rs397515952, rs397515954, rs112738974, rs111729952, rs397515960, rs397515963, rs397515965, rs397515966, rs397515970, rs397515972, rs397515973, rs397515974, rs397515975, rs397515977, rs376395543, rs397515979, rs397515982, rs397515987, rs397515990, rs397515991, rs397515992, rs397515995, rs397515997, rs397516001, rs397516005, rs113358486, rs397516006, rs397516007, rs397516008, rs397516010, rs397516013, rs397516014, rs373746463, rs397516019, rs397516020, rs397516022, rs397516023, rs397516029, rs397516031, rs397516032, rs397516035, rs397516037, rs397516038, rs397516040, rs397516042, rs397516044, rs397516047, rs397516049, rs397516052, rs397516056, rs397516057, rs397516058, rs397516059, rs397516061, rs397516067, rs397516068, rs397516070, rs397516072, rs397516073, rs397516074, rs397516076, rs397516077, rs397516080, rs201078659, rs397516082, rs397516083, rs1555122751, rs397516088, rs397516089, rs397516095, rs397516098, rs397516101, rs397516103, rs397516110, rs397516127, rs371898076, rs397516132, rs397516134, rs397516142, rs3218716, rs397516153, rs397516154, rs397516155, rs397516156, rs397516157, rs397516160, rs397516161, rs397516165, rs397516166, rs397516170, rs397516171, rs397516172, rs397516178, rs397516179, rs397516187, rs397516201, rs397516202, rs145213771, rs397516207, rs397516209, rs397516212, rs397516238, rs397516248, rs397516254, rs397516258, rs397516260, rs45516091, rs397516264, rs397516266, rs397516269, rs397516340, rs397516347, rs121917760, rs397516349, rs397516353, rs397516354, rs397516355, rs397516357, rs397516373, rs397516406, rs397516455, rs397516456, rs397516457, rs397516463, rs397516464, rs45525839, rs397516470, rs397516471, rs45578238, rs111377893, rs397516736, rs397516738, rs397516739, rs397516751, rs397516752, rs397516784, rs397517283, rs397514752, rs143697995, rs267607490, rs199472948, rs138193236, rs398123279, rs869320740, rs606231340, rs606231324, rs587779392, rs587779393, rs587782951, rs587782957, rs587782958, rs587782962, rs587782965, rs138049878, rs376897125, rs368765949, rs727504247, rs376923877, rs727504277, rs727504255, rs727504246, rs727504331, rs727503513, rs727504392, rs397516039, rs727504271, rs727504321, rs727504289, rs727504305, rs727503172, rs573821685, rs727503176, rs727503178, rs727504423, rs727503180, rs727504333, rs727503182, rs727504265, rs727503184, rs727503186, rs727503187, rs727504252, rs727504864, rs727504334, rs727503192, rs397515932, rs727504366, rs727504248, rs727504287, rs200411226, rs727503204, rs727504329, rs727504269, rs573916965, rs367947846, rs727503210, rs730880335, rs727503166, rs727504390, rs730880361, rs727504276, rs111683277, rs727503174, rs727503175, rs727504349, rs727504314, rs727504371, rs730880341, rs727504293, rs727503195, rs111437311, rs727503202, rs727503203, rs727504279, rs727505152, rs727503209, rs727503211, rs727503212, rs727503217, rs727503219, rs730880366, rs727503220, rs727504356, rs727504311, rs727503261, rs727503264, rs727504238, rs148808089, rs727503271, rs727504409, rs727503276, rs727504283, rs727503296, rs45544633, rs727503246, rs727503252, rs727503253, rs202141173, rs2754158, rs727504310, rs727503260, rs727504272, rs727504240, rs727503263, rs727504239, rs727504925, rs727504237, rs727504236, rs727505202, rs727504267, rs727503278, rs727504243, rs727504285, rs727503499, rs727503504, rs727504242, rs727504264, rs727504275, rs727503500, rs727503503, rs727503120, rs730880336, rs730880337, rs730880362, rs730880210, rs730880143, rs730880159, rs730881116, rs730881122, rs730880162, rs730880605, rs730880604, rs730880600, rs730880702, rs730880598, rs730880597, rs730880699, rs730880592, rs730880675, rs730880720, rs730880719, rs730880672, rs730880668, rs730880718, rs730880666, rs730880586, rs730880584, rs11570112, rs730880578, rs730880576, rs730880660, rs730880657, rs730880655, rs730880654, rs730880653, rs730880652, rs730880714, rs730880651, rs730880558, rs730880649, rs730880647, rs730880713, rs730880646, rs730880546, rs727503197, rs730880695, rs730880644, rs730880640, rs730880712, rs730880544, rs730880542, rs730880541, rs730880538, rs730880533, rs730880531, rs730880641, rs730880639, rs397515890, rs730880724, rs730880635, rs730880723, rs730880686, rs730880631, rs730880678, rs730880629, rs730880684, rs368121566, rs730880621, rs730880681, rs375607980, rs730880618, rs730880680, rs730880679, rs730880677, rs730880704, rs730880703, rs730880721, rs730880698, rs730880664, rs730880663, rs730880662, rs730880659, rs730880916, rs727504558, rs730880759, rs730880756, rs730880750, rs730880749, rs730880748, rs730880736, rs727504241, rs727504299, rs730880732, rs730880883, rs730880930, rs730880929, rs730880875, rs370310929, rs730880926, rs730880864, rs730880856, rs397516268, rs730880922, rs730880845, rs730880388, rs730881091, rs786204352, rs786204339, rs786204338, rs786204336, rs786204329, rs2069544, rs281865416, rs773317399, rs121913648, rs730880809, rs863224483, rs863224899, rs863224900, rs863225120, rs863225121, rs863225107, rs863225114, rs863225113, rs863225104, rs863225105, rs863225112, rs863225106, rs863225109, rs863225111, rs863225100, rs863225103, rs863225102, rs863225097, rs863225101, rs730880876, rs863225272, rs863225271, rs190228518, rs863225269, rs761507504, rs864622224, rs1057515421, rs869025470, rs869025469, rs869025461, rs869025468, rs869025460, rs869025467, rs869025466, rs869025465, rs869025464, rs869025463, rs869025459, rs869025462, rs727503512, rs876657706, rs876657705, rs876657703, rs876657702, rs727503213, rs876657884, rs878854428, rs878853831, rs878853842, rs1562999443, rs1563003848, rs1562991002, rs879255639, rs886037900, rs886037902, rs886037901, rs886038822, rs886039030, rs886039185, rs754664923, rs141019458, rs1057517766, rs1057517767, rs779650200, rs1057518030, rs1057517711, rs1057519503, rs1057520814, rs1060499673, rs1060501480, rs1060501484, rs1060501481, rs1060501478, rs1064792936, rs1060501475, rs1060501479, rs1064792935, rs1060501436, rs1060501448, rs1060501443, rs1060501452, rs1060505018, rs1060499604, rs781135153, rs1064796231, rs1064793202, rs977277400, rs1064793429, rs771929829, rs745811346, rs1114167419, rs1114167361, rs1555409659, rs1555123389, rs1131691514, rs1131692185, rs1131692058, rs1553279294, rs1555120920, rs1555121924, rs1555338319, rs1555120300, rs1555121488, rs373792537, rs1444727212, rs1555338462, rs1555120937, rs1555123629, rs794727046, rs1555123633, rs1555121172, rs1555123438, rs1555336467, rs1555338658, rs1213930919, rs1432810664, rs1555122188, rs764743402, rs974671846, rs1420159591, rs745688425, rs1555338080, rs200889953, rs1555120258, rs1298025872, rs767039057, rs1555120529, rs1555121247, rs774521272, rs1555122156, rs1555123473, rs1555123496, rs1555123597, rs1555337701, rs2856897, rs869312381, rs1555122928, rs1555123743, rs1554401581, rs1555120651, rs868819340, rs1555122053, rs730880742, rs758891557, rs1555337794, rs1555338378, rs1555338758, rs1245885836, rs1566530698, rs1566513862, rs1565629792, rs730880751, rs727504294, rs1563001548, rs1565622952, rs1565625473, rs1565626409, rs1565627536, rs1565628062, rs1565628486, rs1565631430, rs1391622163, rs1131691685, rs749007293, rs1566535491, rs1565624090, rs1565625777, rs1565631428, rs1568858210, rs1566537070, rs1565627566, rs1567864804, rs1563161306, rs1565622703, rs190765116, rs1595843598, rs1565625795, rs1565628078, rs774316050, rs1565631381, rs1565631424, rs1566531421, rs730880872, rs730880870, rs1566536418, rs1566536436, rs1565623216, rs1265248322, rs113276889, rs1562998062, rs1419032418, rs1565627615, rs1565624196, rs1595843640, rs1595846398, rs764950910, rs1600448065, rs1600462474, rs1417887060, rs1600477808, rs1600480573, rs1050997719, rs1420394583, rs1595840648, rs1595841063, rs1595843549, rs1595843758, rs1595845565, rs1595845888, rs1595846344, rs1595846475, rs1595849931, rs1595070747, rs1246272841, rs730880741, rs1173617248, rs1595085409, rs730880879, rs1299079662, rs1595848628, rs1595849603, rs1450218521, rs1571627587, rs1603037717, rs1603038411, rs1595850762, rs777702465, rs1595841736, rs1595842238, rs1595845204, rs1025692267, rs1595070689, rs1198682781, rs2095879705, rs201911056, rs727504425, rs141414377, rs1596303148, rs1595841206, rs1595844714, rs1595842632, rs1595843828, rs113709679, rs1595841552, rs1595849742, rs754529157, rs1709195189, rs1342121466, rs2095880935, rs2095883508, rs2095884984, rs2095889902, rs2095891411, rs2095898532, rs780625785, rs1892592854, rs1892948780, rs2095879167, rs1956121988, rs2095893477, rs2095894178, rs1801002279, rs1892956157	9527842
Leukodystrophy	Leukodystrophy, Leukodystrophy, Hypomyelinating, 4	rs74315475, rs72466451, rs267608671, rs181087667, rs267608682, rs267608674, rs587778271, rs148932047, rs886037931, rs368905417, rs768180196, rs1558211070, rs1558209947, rs1558210191, rs1280845604, rs1382083552, rs1576101665, rs1576080546, rs1576074651, rs1367958450, rs932183417	27604308, 30083362, 18571143, 11898127
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Papillary renal carcinoma	Papillary Renal Cell Carcinoma	rs5030823, rs2137087134, rs121913668, rs121913669, rs121913670, rs121913671, rs121913673, rs121913243, rs786202724	15108329
Pelizaeus-merzbacher disease	Pelizaeus-Merzbacher-like disease due to HSPD1 mutation	rs132630278, rs132630279, rs11543022, rs132630280, rs132630281, rs132630282, rs132630284, rs132630285, rs132630286, rs132630288, rs132630289, rs132630291, rs132630292, rs132630293, rs1569428537, rs1569427707, rs132630296, rs398123467, rs797045064, rs886044450, rs1060499653, rs1060500909, rs1556267215, rs1556273167, rs1556269487, rs1556267388, rs864622194, rs1556267123, rs1556270312, rs1569427311, rs1569427275, rs1455411788, rs1602373055, rs1602382829, rs1602384238, rs1602385663, rs1602383261, rs1602383268
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
Rod-cone dystrophy	Rod-Cone Dystrophy	rs267606641, rs199476133, rs193302849, rs777668842, rs775518991, rs752300607, rs142759730, rs756225251, rs536742386, rs1588830568, rs778907433
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Spastic paraplegia	Spastic Paraplegia, Autosomal dominant spastic paraplegia type 13	rs118204049, rs121918262, rs104894490, rs119476046, rs281865117, rs281865118, rs137853017, rs72554620, rs121908610, rs121908611, rs121908613, rs116171274, rs121434442, rs121434443, rs137852520, rs137852521, rs137852524, rs137852525, rs879253716, rs387906970, rs587776888, rs759947457, rs587776891, rs753426920, rs387907057, rs397514478, rs387907285, rs387907287, rs387907288, rs281865120, rs397514513, rs141431913, rs312262755, rs398123013, rs398123014, rs398122382, rs745744124, rs483352924, rs483352925, rs587777222, rs587779388, rs587783179, rs587783772, rs587784383, rs587784384, rs730882249, rs762947018, rs786204628, rs141315518, rs786204416, rs786204750, rs770866403, rs775059063, rs797044787, rs794729214, rs794729215, rs797045050, rs370828455, rs146262009, rs797045244, rs780247476, rs185246578, rs766773277, rs863224494, rs752669339, rs869320690, rs200737038, rs869312914, rs752283089, rs751713917, rs756205995, rs875989787, rs875989845, rs375817528, rs200440467, rs876661295, rs794727501, rs770285398, rs878854745, rs878854975, rs878855013, rs878855011, rs878855083, rs878853979, rs879255397, rs879255396, rs886039410, rs886039409, rs886039407, rs886039408, rs886039405, rs886039406, rs752598529, rs752059006, rs202199411, rs886041949, rs886041127, rs886042238, rs1057517123, rs747868017, rs1057517294, rs565203731, rs753205260, rs1057517002, rs779338945, rs755186798, rs1057517250, rs1057517060, rs753012964, rs758572409, rs1057516959, rs1057516438, rs145766983, rs1057516689, rs1057516932, rs1057516635, rs1057517366, rs759166250, rs1057517138, rs761089024, rs1057517297, rs1057517311, rs1057516779, rs1057517039, rs1057517285, rs1057516365, rs1057516625, rs1057516987, rs1057516837, rs1057518016, rs1057518880, rs1057518697, rs1057519289, rs1057519290, rs1057519291, rs1057519292, rs1057519293, rs1057521784, rs1060499756, rs1060499771, rs1060502224, rs1060502523, rs371019314, rs1060503431, rs774906736, rs372350326, rs776976178, rs370837940, rs1064793162, rs1064793920, rs1555177629, rs1555394376, rs377445018, rs767024102, rs768176054, rs1557090943, rs1557090161, rs1555178616, rs1555251539, rs754439135, rs1321353475, rs1555186937, rs767871841, rs867249938, rs1440541889, rs1555456727, rs1268722908, rs1557092247, rs1557092248, rs765632065, rs773246271, rs1554380391, rs1554517327, rs200268523, rs1156566314, rs1160357920, rs773182375, rs768366199, rs774809466, rs1555542889, rs915291720, rs1021034246, rs769676029, rs746979262, rs1033093801, rs955142329, rs760559263, rs1557091773, rs1372213267, rs1557091678, rs1402429085, rs1555179091, rs1555179087, rs374128662, rs142209254, rs1553259463, rs1555254256, rs755820725, rs1335804396, rs568176223, rs1555979596, rs780030221, rs1553314978, rs923921184, rs1556840029, rs374894037, rs1553262438, rs1555249362, rs950356390, rs1557091278, rs1557090220, rs1259615333, rs1555249276, rs1555249425, rs1555249479, rs1555249555, rs1555250949, rs1555252349, rs1167474602, rs1175545518, rs1555249648, rs1555249878, rs1400601705, rs1555252086, rs745907077, rs1555249371, rs1555249904, rs1555393393, rs1028098148, rs766711286, rs767164213, rs1470672632, rs1555252184, rs1224762841, rs769329153, rs1555254734, rs1555397331, rs941230062, rs545219731, rs200832994, rs1555250255, rs1240368715, rs1555393338, rs1049504575, rs1485209013, rs868672014, rs1214483973, rs558285072, rs1555398241, rs1186788102, rs981804211, rs935301743, rs1555251822, rs1555255676, rs369459721, rs772400670, rs1558119445, rs759033144, rs1565705251, rs1566055368, rs1566058677, rs1006060877, rs1448182827, rs1569544908, rs754944359, rs754944429, rs1569544723, rs1569285562, rs367916692, rs1566893090, rs1177577061, rs1566881181, rs1569280986, rs1590847310, rs746220436, rs1569281085, rs529495094, rs1563920268, rs1563920252, rs1563920172, rs1563919973, rs1563920000, rs1563920132, rs751568153, rs1569274606, rs1455411788, rs1571908452, rs768640920, rs1578729121, rs1585896928, rs1585808059, rs1588001500, rs1011987148, rs1594915468, rs1594925773, rs1361370524, rs1593121507, rs1365858851, rs1593125341, rs1181477970, rs1593129673, rs1593133395, rs1593133714, rs1593144167, rs1593144544, rs1593144887, rs767435985, rs1593147785, rs994374354, rs1593157923, rs1594900921, rs1594906944, rs1594910045, rs1594913346, rs1594930532, rs1594938339, rs140354725, rs1418885000, rs1603275195, rs1603276234, rs1574077569, rs1603275315, rs1587878722, rs1587879449, rs1593133607, rs770490672, rs1602099961, rs778722037, rs756830713, rs1593121484, rs763869212, rs1594912625, rs1597556143, rs778113360, rs377278120, rs933233143, rs1572337800, rs1573072864, rs1593125290, rs1593126754, rs1593123432, rs1571563769, rs1584514057, rs772704931, rs1587878961, rs1802811311, rs1052410160, rs1298132281, rs748480664, rs139015012, rs1340636078, rs927804920, rs1883405453, rs1883566609, rs1868403104, rs1868480299, rs1868481514, rs1868567420, rs1868626730, rs1868628768, rs1868872666, rs1869006331, rs769212398, rs757179309, rs2039098098, rs2039228359, rs774867891, rs2039613696, rs2039616151, rs2039786680, rs2039997721, rs748149642, rs2040215878, rs760484081, rs1204169977, rs367665974, rs201311640, rs1034820850, rs1930458591, rs1882179247, rs2039758874, rs1885117995, rs1805435464
Spondylometaphyseal dysplasia	Spastic paraplegia 13, autosomal dominant	rs77975504, rs121912634, rs121912637, rs267607148, rs267607149, rs515726162, rs1599810980, rs769967246, rs786203989, rs1064795155, rs1553658926, rs1553659131, rs1181638652, rs1553667072, rs1553669703, rs140451304, rs1114167892, rs1114167893, rs778222701, rs1131690800, rs763623409, rs922930539, rs555164150, rs1555716575, rs1559604072, rs1559609410, rs1559616744, rs1596247721, rs1602071514	11898127, 1189812, 27604308, 18571143

Unknown
Disease term	Disease name	Evidence	References	Source
Chromophobe carcinoma	Chromophobe Renal Cell Carcinoma		15108329	ClinVar
Coronary syndrome	Acute Coronary Syndrome		21751358	ClinVar
Spastic Paraplegia	hereditary spastic paraplegia 13			GenCC
Schizophrenia	Schizophrenia			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Acquired Immunodeficiency Syndrome	Associate	23028910
Adenocarcinoma	Associate	23839491, 27491302, 28178129
Adenocarcinoma of Lung	Associate	33640883, 37189138, 37694354, 38017020
Adenoma	Associate	27491302
Alzheimer Disease	Associate	39201760
Antiphospholipid Syndrome	Associate	18759277
Aortic Aneurysm Thoracic	Associate	36291095
Aortic Valve Stenosis	Associate	15120829
Arthritis	Associate	1316935, 7883993
Arthritis Juvenile	Associate	12847694, 1316935, 7883993
Arthritis Reactive	Associate	10640771, 23705835, 8608642
Arthritis Rheumatoid	Associate	10692038, 11048656, 17457039, 7632088, 8608642
Asthma	Associate	19913588
Astrocytoma	Associate	10701837
Atherosclerosis	Associate	10021466, 10203577, 21798264, 22901435, 24347824, 25654359, 26078803, 28604836, 29151033, 32196617, 35308005, 7664485, 8099471, 9250400
Atrial Remodeling	Associate	17688193
Autoimmune Diseases	Associate	10203577, 11882035, 1979591, 33196989, 7913951
Autoimmune Diseases	Stimulate	8778028
Behcet Syndrome	Associate	15196263, 15654836, 15654837
Biliary Tract Diseases	Associate	8666687
Brain Neoplasms	Associate	25269047
Breast Neoplasms	Associate	28591216, 30365075
Buruli Ulcer	Associate	21072233
Cachexia	Associate	35563712
Carcinogenesis	Associate	12860287, 15957980, 17048249, 19568603, 27491302, 37694354
Carcinogenesis	Inhibit	17457039
Carcinoma Basal Cell	Associate	17048249, 28178129
Carcinoma Hepatocellular	Associate	15810071, 26137588, 33307168, 36291095
Carcinoma Non Small Cell Lung	Associate	28178129, 32986659
Carcinoma Ovarian Epithelial	Associate	27460076
Carcinoma Renal Cell	Inhibit	31112866
Carcinoma Squamous Cell	Associate	31222140
Cardiomyopathy Dilated	Associate	7901255
Cardiovascular Diseases	Associate	32739154
Carotid Stenosis	Associate	25654359
Cerebral Infarction	Associate	21206505
Cerebral Palsy	Associate	18571143
Charcot Marie Tooth Disease Recessive Intermediate A	Associate	15708314
Chlamydial Pneumonia	Associate	17848980
Cholangiocarcinoma	Stimulate	23118872
Cholangitis Sclerosing	Stimulate	8666687
Chondroma	Associate	11079732
Chronic Disease	Associate	18240224, 28976240
Cicatrix	Associate	8809130
Cognition Disorders	Associate	37211381
Colitis Ulcerative	Associate	1424286, 22297444
Colorectal Neoplasms	Associate	17457039, 20164542, 20433702, 23004678, 28347227, 33971488, 36499558
Colorectal Neoplasms	Stimulate	21973086
Connective Tissue Diseases	Associate	11048656
Coronary Artery Disease	Associate	17052347, 18229457, 39445733
Coronary Disease	Associate	16297172, 18320357
COVID 19	Associate	34975885
Crohn Disease	Stimulate	1424286
Crohn Disease	Associate	16618609
Demyelinating Autoimmune Diseases CNS	Associate	18571143
Dermatitis Atopic	Associate	22869467
Dermatomyositis	Associate	18240224, 28183315
Diabetes Mellitus	Associate	28591216, 29867058, 7913951
Diabetes Mellitus	Stimulate	29134442
Diabetes Mellitus Type 2	Associate	18229457
Diabetes Mellitus Type 2	Stimulate	20067962
Disease	Associate	10680751
Drug Related Side Effects and Adverse Reactions	Inhibit	26700624, 31861692
Drug Related Side Effects and Adverse Reactions	Associate	28698656
Esophageal Neoplasms	Associate	36889194
Fanconi Anemia	Associate	34954697
Gallbladder Neoplasms	Associate	33261560
Gardner Syndrome	Associate	29682763
Gastrointestinal Neoplasms	Associate	16618609
Glaucoma Open Angle	Associate	30899261
Glioblastoma	Associate	17233837, 27325206
Glomerulonephritis IGA	Associate	10354275
Graft vs Host Disease	Associate	35486633
Heart Failure	Associate	22702715
Hematologic Diseases	Associate	28698656
Heredodegenerative Disorders Nervous System	Associate	18571143
HIV Infections	Stimulate	23028910, 31779701
Hypercholesterolemia	Associate	39445733
Hypersensitivity Immediate	Associate	33196989
Immune System Diseases	Associate	23028910
Infections	Associate	10371470, 17052347, 1979591, 20876294, 37827383
Inflammation	Associate	10021466, 15120829, 15654837, 21206505, 21889313, 22258649, 22869467, 23028910, 28976240, 29134442, 38087324, 8099471
Inflammation	Stimulate	32876904
Inflammatory Bowel Diseases	Associate	1424286
Intracranial Arterial Diseases	Associate	17665428
Kidney Diseases	Stimulate	18229449
Kidney Neoplasms	Inhibit	31112866
Leprosy Lepromatous	Associate	7524076
Leukemia	Associate	20694586
Leukemia Monocytic Acute	Stimulate	29134442
Leukemia Myeloid Acute	Associate	24885082
Leukodystrophy Hypomyelinating 2	Associate	18571143
Leukodystrophy Hypomyelinating 4	Associate	18571143, 21717087, 33076433
Leukodystrophy Metachromatic	Associate	18571143
Lipid Metabolism Disorders	Associate	34557266
Liver Cirrhosis Biliary	Associate	7526135
Liver Cirrhosis Biliary	Stimulate	8666687
Lung Neoplasms	Associate	19657000, 26700624, 28178129, 37694354
Lupus Erythematosus Systemic	Associate	11048656, 8608642
Lymphatic Metastasis	Associate	16253146, 25207654
Lymphatic Metastasis	Stimulate	31222140, 37661276
Lymphoma B Cell Marginal Zone	Associate	9708209
Melanoma	Associate	21792879, 22872370
Metaphyseal chondrodysplasia Schmid type	Associate	10383388
Mitochondrial Diseases	Associate	11959456, 18086682, 21717087, 21769504, 26700624
Mucocutaneous Lymph Node Syndrome	Associate	19950419
Multiple Myeloma	Associate	22350072, 32155663
Multiple Sclerosis	Associate	1374907
Muscular Atrophy	Associate	35563712
Myasthenia Gravis	Associate	22258649
Mycobacterium Infections	Associate	21880973
Mycobacterium Infections Nontuberculous	Associate	22042395
Myocardial Ischemia	Associate	7901255
Necrosis	Associate	17201177
Neoplasm Metastasis	Inhibit	26948660
Neoplasm Metastasis	Associate	29080556, 31222140
Neoplasms	Associate	10663613, 14730689, 15791579, 15957980, 16253146, 17457039, 18086682, 22028587, 23082721, 23839491, 24099319, 25207654, 25265318, 26700624, 26810190, 27491302, 27836734, 28178129, 28183315, 30609639, 31112866, 31477750, 31963896, 32986659, 35292180, 37186587, 37661276, 37694354, 38087324
Neoplasms	Inhibit	17048249
Neoplasms	Stimulate	32155663, 37087461
Neoplasms Glandular and Epithelial	Associate	17048249
Neuroblastoma	Associate	18797883, 30609639, 31963896
Neurodegenerative Diseases	Associate	18571143, 21717087, 31444388, 31861692, 32739154
Neurogenic Bowel	Associate	16253146
Neuroinflammatory Diseases	Associate	39201760
Neuromuscular Diseases	Associate	31444388
Obesity	Stimulate	24986468
Obesity	Associate	39593105
Osteosarcoma	Associate	24015183
Ovarian Diseases	Associate	39593105
Ovarian Neoplasms	Associate	23429486, 25265318, 34557266, 37087461, 39593105
Ovarian Neoplasms	Stimulate	31477750
Pelizaeus Merzbacher Disease	Associate	18571143
Pelizaeus Merzbacher like disease autosomal recessive 2	Associate	18571143
Periodontal Diseases	Associate	11882035, 11953387, 16542362
Periodontitis	Associate	11882035, 11953387
Periodontitis	Stimulate	16542362
Plaque Atherosclerotic	Associate	10021466, 15699420
Pneumonia Mycoplasma	Associate	15708314
Polycystic Ovary Syndrome	Associate	34480296, 38256230
Precancerous Conditions	Associate	27836734
Prostatic Neoplasms	Associate	16705742, 23661456, 29682763, 35241511
Prostatitis	Associate	17457039
Pulmonary Disease Chronic Obstructive	Associate	17048249, 22140545, 22829758, 28976240
Pyruvate Dehydrogenase Complex Deficiency Disease	Associate	29445841
Q Fever	Associate	33072625
Renal Insufficiency Chronic	Stimulate	24113772
Renal Insufficiency Chronic	Associate	24347824
Respiratory Distress Syndrome	Stimulate	22321564
Rheumatic Diseases	Associate	11048656
Rheumatic Heart Disease	Associate	24738046
Rupture	Associate	29151033
Sjogren's Syndrome	Associate	11048656
Spastic paraplegia 13 autosomal dominant	Associate	18571143
Spastic Paraplegia Hereditary	Associate	11898127, 18400758, 21717087, 31444388, 36316435
Spondylitis Ankylosing	Associate	23424650, 23705835
Squamous Cell Carcinoma of Head and Neck	Associate	31222140, 33232279, 37661276
Status Asthmaticus	Associate	19913588
Stomach Diseases	Associate	26810190
Stomach Neoplasms	Associate	19203381, 25207654, 26646027, 26810190, 26928021, 27644641, 35635169
Takayasu Arteritis	Associate	15544635, 17665428, 7906697
Thrombosis	Associate	18759277
Tongue Neoplasms	Associate	14730689
Tuberculosis Pulmonary	Associate	22042395
Urinary Bladder Neoplasms	Associate	12942564
Uterine Cervical Neoplasms	Associate	19568603
Vaginosis Bacterial	Associate	10371470
Vascular Diseases	Associate	26078803
Vascular System Injuries	Associate	7906697
Ventricular Remodeling	Associate	31467116
von Willebrand Disease Type 2	Associate	25365350
Vulvovaginitis	Associate	10371470
Whooping Cough	Stimulate	21170113