DLD (dihydrolipoamide dehydrogenase)

Gene

• Entrez ID: 1738
• Gene name: Dihydrolipoamide dehydrogenase
• Gene symbol: DLD
• Synonyms (NCBI Gene): DLDD, DLDH, E3, GCSL, LAD, OGDC-E3, PHE3
• Disease Acronyms (UniProt): DLDD
• Chromosome: 7
• Chromosome location: 7q31.1
• Summary: This gene encodes a member of the class-I pyridine nucleotide-disulfide oxidoreductase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. In homodimeric form, the e

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs111257462	G>A,C	Likely-pathogenic	Splice donor variant
rs121964987	A>G	Pathogenic	Missense variant, intron variant, coding sequence variant
rs121964988	C>T	Pathogenic	Missense variant, coding sequence variant
rs121964989	A>G	Pathogenic	Missense variant, coding sequence variant
rs121964990	G>C,T	Pathogenic	Missense variant, coding sequence variant
rs121964991	T>C	Pathogenic	Missense variant, coding sequence variant
rs121964992	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121964993	A>G	Pathogenic	Missense variant, coding sequence variant
rs148873419	A>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs397514649	A>T	Pathogenic	Missense variant, coding sequence variant
rs397514650	A>G	Pathogenic	Missense variant, coding sequence variant
rs397514651	T>C	Pathogenic	Missense variant, coding sequence variant, intron variant
rs533405046	A>C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs747810875	C>G,T	Likely-pathogenic, likely-benign	5 prime UTR variant, coding sequence variant, stop gained, synonymous variant
rs753234219	->A	Likely-pathogenic	5 prime UTR variant, coding sequence variant, stop gained
rs763303046	A>G,T	Likely-pathogenic, uncertain-significance	Intron variant, coding sequence variant, missense variant
rs764611160	AG>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs764704217	T>-,TT	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs777884525	TCAA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs780025714	G>T	Likely-pathogenic	Splice donor variant
rs796051947	C>T	Likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs796051948	A>G	Likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs1040811473	A>-,AA	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057516698	C>T	Uncertain-significance, likely-pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs1057517214	->A	Likely-pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1328820332	G>A	Likely-pathogenic	Splice donor variant
rs1554396895	C>-	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained
rs1554396908	G>T	Likely-pathogenic	Splice donor variant
rs1554398193	G>A	Likely-pathogenic	Intron variant, splice donor variant
rs1554398264	G>A	Likely-pathogenic	Splice acceptor variant, intron variant
rs1554398461	A>G	Likely-pathogenic	Splice acceptor variant
rs1554398624	AG>T	Likely-pathogenic	Splice acceptor variant
rs1554398625	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554400179	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554400483	G>T	Likely-pathogenic	Splice donor variant
rs1554400699	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554400704	TGTG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554400713	AG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1562908173	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT031565	hsa-miR-16-5p	Proteomics	18668040
MIRT048620	hsa-miR-99a-5p	CLASH	23622248
MIRT756164	hsa-miR-653-5p	Luciferase reporter assay, Western blotting, qRT-PCR	37334893
MIRT937933	hsa-miR-1	CLIP-seq
MIRT937934	hsa-miR-1208	CLIP-seq
MIRT937935	hsa-miR-1256	CLIP-seq
MIRT937936	hsa-miR-1283	CLIP-seq
MIRT937937	hsa-miR-1298	CLIP-seq
MIRT937938	hsa-miR-130a	CLIP-seq
MIRT937939	hsa-miR-130b	CLIP-seq
MIRT937940	hsa-miR-134	CLIP-seq
MIRT937941	hsa-miR-149	CLIP-seq
MIRT937942	hsa-miR-1910	CLIP-seq
MIRT937943	hsa-miR-1915	CLIP-seq
MIRT937944	hsa-miR-1976	CLIP-seq
MIRT937945	hsa-miR-2054	CLIP-seq
MIRT937946	hsa-miR-206	CLIP-seq
MIRT937947	hsa-miR-218	CLIP-seq
MIRT937948	hsa-miR-219-1-3p	CLIP-seq
MIRT937949	hsa-miR-221	CLIP-seq
MIRT937950	hsa-miR-222	CLIP-seq
MIRT937951	hsa-miR-2355-5p	CLIP-seq
MIRT937952	hsa-miR-23a	CLIP-seq
MIRT937953	hsa-miR-23b	CLIP-seq
MIRT937954	hsa-miR-23c	CLIP-seq
MIRT937955	hsa-miR-24	CLIP-seq
MIRT937956	hsa-miR-301a	CLIP-seq
MIRT937957	hsa-miR-301b	CLIP-seq
MIRT937958	hsa-miR-3118	CLIP-seq
MIRT937959	hsa-miR-3121-3p	CLIP-seq
MIRT937960	hsa-miR-3127-5p	CLIP-seq
MIRT937961	hsa-miR-3136-5p	CLIP-seq
MIRT937962	hsa-miR-3154	CLIP-seq
MIRT937963	hsa-miR-3157-5p	CLIP-seq
MIRT937964	hsa-miR-3164	CLIP-seq
MIRT937965	hsa-miR-3167	CLIP-seq
MIRT937966	hsa-miR-3179	CLIP-seq
MIRT937967	hsa-miR-338-5p	CLIP-seq
MIRT937968	hsa-miR-3591-3p	CLIP-seq
MIRT937969	hsa-miR-3609	CLIP-seq
MIRT937970	hsa-miR-3612	CLIP-seq
MIRT937971	hsa-miR-3617	CLIP-seq
MIRT937972	hsa-miR-365	CLIP-seq
MIRT937973	hsa-miR-3666	CLIP-seq
MIRT937974	hsa-miR-3671	CLIP-seq
MIRT937975	hsa-miR-370	CLIP-seq
MIRT937976	hsa-miR-374c	CLIP-seq
MIRT937977	hsa-miR-3911	CLIP-seq
MIRT937978	hsa-miR-3941	CLIP-seq
MIRT937979	hsa-miR-3942-3p	CLIP-seq
MIRT937980	hsa-miR-3977	CLIP-seq
MIRT937981	hsa-miR-4284	CLIP-seq
MIRT937982	hsa-miR-4286	CLIP-seq
MIRT937983	hsa-miR-4295	CLIP-seq
MIRT937984	hsa-miR-432	CLIP-seq
MIRT937985	hsa-miR-4439	CLIP-seq
MIRT937986	hsa-miR-4473	CLIP-seq
MIRT937987	hsa-miR-4480	CLIP-seq
MIRT937988	hsa-miR-4501	CLIP-seq
MIRT937989	hsa-miR-4513	CLIP-seq
MIRT937990	hsa-miR-454	CLIP-seq
MIRT937991	hsa-miR-455-3p	CLIP-seq
MIRT937992	hsa-miR-4633-3p	CLIP-seq
MIRT937993	hsa-miR-4643	CLIP-seq
MIRT937994	hsa-miR-4653-3p	CLIP-seq
MIRT937995	hsa-miR-4655-5p	CLIP-seq
MIRT937996	hsa-miR-466	CLIP-seq
MIRT937997	hsa-miR-4667-3p	CLIP-seq
MIRT937998	hsa-miR-4671-3p	CLIP-seq
MIRT937999	hsa-miR-4672	CLIP-seq
MIRT938000	hsa-miR-4677-3p	CLIP-seq
MIRT938001	hsa-miR-4688	CLIP-seq
MIRT938002	hsa-miR-4691-3p	CLIP-seq
MIRT938003	hsa-miR-4694-5p	CLIP-seq
MIRT938004	hsa-miR-4695-5p	CLIP-seq
MIRT938005	hsa-miR-4717-3p	CLIP-seq
MIRT938006	hsa-miR-4726-3p	CLIP-seq
MIRT938007	hsa-miR-4771	CLIP-seq
MIRT938008	hsa-miR-4789-3p	CLIP-seq
MIRT938009	hsa-miR-4797-5p	CLIP-seq
MIRT938010	hsa-miR-486-3p	CLIP-seq
MIRT938011	hsa-miR-494	CLIP-seq
MIRT938012	hsa-miR-499a-5p	CLIP-seq
MIRT938013	hsa-miR-513a-3p	CLIP-seq
MIRT938014	hsa-miR-548aa	CLIP-seq
MIRT938015	hsa-miR-548ah	CLIP-seq
MIRT938016	hsa-miR-548c-3p	CLIP-seq
MIRT938017	hsa-miR-548v	CLIP-seq
MIRT938018	hsa-miR-570	CLIP-seq
MIRT938019	hsa-miR-571	CLIP-seq
MIRT938020	hsa-miR-574-5p	CLIP-seq
MIRT938021	hsa-miR-580	CLIP-seq
MIRT938022	hsa-miR-607	CLIP-seq
MIRT938023	hsa-miR-613	CLIP-seq
MIRT938024	hsa-miR-617	CLIP-seq
MIRT938025	hsa-miR-636	CLIP-seq
MIRT938026	hsa-miR-641	CLIP-seq
MIRT938027	hsa-miR-650	CLIP-seq
MIRT938028	hsa-miR-655	CLIP-seq
MIRT938029	hsa-miR-662	CLIP-seq
MIRT938030	hsa-miR-665	CLIP-seq
MIRT938031	hsa-miR-759	CLIP-seq
MIRT938032	hsa-miR-873	CLIP-seq
MIRT938033	hsa-miR-876-5p	CLIP-seq
MIRT938034	hsa-miR-892b	CLIP-seq
MIRT937933	hsa-miR-1	CLIP-seq
MIRT937934	hsa-miR-1208	CLIP-seq
MIRT937935	hsa-miR-1256	CLIP-seq
MIRT937936	hsa-miR-1283	CLIP-seq
MIRT937940	hsa-miR-134	CLIP-seq
MIRT937942	hsa-miR-1910	CLIP-seq
MIRT937945	hsa-miR-2054	CLIP-seq
MIRT937946	hsa-miR-206	CLIP-seq
MIRT937947	hsa-miR-218	CLIP-seq
MIRT1977585	hsa-miR-2355-3p	CLIP-seq
MIRT937951	hsa-miR-2355-5p	CLIP-seq
MIRT937952	hsa-miR-23a	CLIP-seq
MIRT937953	hsa-miR-23b	CLIP-seq
MIRT937954	hsa-miR-23c	CLIP-seq
MIRT1977586	hsa-miR-2467-3p	CLIP-seq
MIRT937958	hsa-miR-3118	CLIP-seq
MIRT937959	hsa-miR-3121-3p	CLIP-seq
MIRT937960	hsa-miR-3127-5p	CLIP-seq
MIRT937964	hsa-miR-3164	CLIP-seq
MIRT1977587	hsa-miR-3200-5p	CLIP-seq
MIRT1977588	hsa-miR-323b-3p	CLIP-seq
MIRT937967	hsa-miR-338-5p	CLIP-seq
MIRT1977589	hsa-miR-3647-3p	CLIP-seq
MIRT937972	hsa-miR-365	CLIP-seq
MIRT937974	hsa-miR-3671	CLIP-seq
MIRT1977590	hsa-miR-3678-3p	CLIP-seq
MIRT937976	hsa-miR-374c	CLIP-seq
MIRT1977591	hsa-miR-3973	CLIP-seq
MIRT937980	hsa-miR-3977	CLIP-seq
MIRT1977592	hsa-miR-4277	CLIP-seq
MIRT937984	hsa-miR-432	CLIP-seq
MIRT1977593	hsa-miR-433	CLIP-seq
MIRT1977594	hsa-miR-4427	CLIP-seq
MIRT1977595	hsa-miR-4470	CLIP-seq
MIRT937988	hsa-miR-4501	CLIP-seq
MIRT937991	hsa-miR-455-3p	CLIP-seq
MIRT937992	hsa-miR-4633-3p	CLIP-seq
MIRT1977596	hsa-miR-4646-3p	CLIP-seq
MIRT938000	hsa-miR-4677-3p	CLIP-seq
MIRT1977597	hsa-miR-4680-3p	CLIP-seq
MIRT938001	hsa-miR-4688	CLIP-seq
MIRT1977598	hsa-miR-4775	CLIP-seq
MIRT1977599	hsa-miR-496	CLIP-seq
MIRT1977600	hsa-miR-499-3p	CLIP-seq
MIRT1977601	hsa-miR-499a-3p	CLIP-seq
MIRT938013	hsa-miR-513a-3p	CLIP-seq
MIRT938014	hsa-miR-548aa	CLIP-seq
MIRT1977602	hsa-miR-562	CLIP-seq
MIRT938019	hsa-miR-571	CLIP-seq
MIRT938021	hsa-miR-580	CLIP-seq
MIRT938022	hsa-miR-607	CLIP-seq
MIRT938023	hsa-miR-613	CLIP-seq
MIRT938024	hsa-miR-617	CLIP-seq
MIRT938025	hsa-miR-636	CLIP-seq
MIRT938028	hsa-miR-655	CLIP-seq
MIRT938029	hsa-miR-662	CLIP-seq
MIRT938032	hsa-miR-873	CLIP-seq
MIRT937933	hsa-miR-1	CLIP-seq
MIRT937934	hsa-miR-1208	CLIP-seq
MIRT2212860	hsa-miR-1225-5p	CLIP-seq
MIRT2212861	hsa-miR-125a-5p	CLIP-seq
MIRT2212862	hsa-miR-125b	CLIP-seq
MIRT2212863	hsa-miR-1273d	CLIP-seq
MIRT937937	hsa-miR-1298	CLIP-seq
MIRT2212864	hsa-miR-190	CLIP-seq
MIRT2212865	hsa-miR-190b	CLIP-seq
MIRT937945	hsa-miR-2054	CLIP-seq
MIRT937946	hsa-miR-206	CLIP-seq
MIRT2212866	hsa-miR-208a	CLIP-seq
MIRT2212867	hsa-miR-208b	CLIP-seq
MIRT937947	hsa-miR-218	CLIP-seq
MIRT1977585	hsa-miR-2355-3p	CLIP-seq
MIRT937951	hsa-miR-2355-5p	CLIP-seq
MIRT937952	hsa-miR-23a	CLIP-seq
MIRT937953	hsa-miR-23b	CLIP-seq
MIRT937954	hsa-miR-23c	CLIP-seq
MIRT937959	hsa-miR-3121-3p	CLIP-seq
MIRT2212868	hsa-miR-3166	CLIP-seq
MIRT937965	hsa-miR-3167	CLIP-seq
MIRT1977587	hsa-miR-3200-5p	CLIP-seq
MIRT2212869	hsa-miR-3201	CLIP-seq
MIRT2212870	hsa-miR-3646	CLIP-seq
MIRT937972	hsa-miR-365	CLIP-seq
MIRT937974	hsa-miR-3671	CLIP-seq
MIRT1977590	hsa-miR-3678-3p	CLIP-seq
MIRT937976	hsa-miR-374c	CLIP-seq
MIRT937980	hsa-miR-3977	CLIP-seq
MIRT2212871	hsa-miR-410	CLIP-seq
MIRT1977592	hsa-miR-4277	CLIP-seq
MIRT937982	hsa-miR-4286	CLIP-seq
MIRT2212872	hsa-miR-4319	CLIP-seq
MIRT1977593	hsa-miR-433	CLIP-seq
MIRT2212873	hsa-miR-4446-5p	CLIP-seq
MIRT2212874	hsa-miR-4475	CLIP-seq
MIRT937987	hsa-miR-4480	CLIP-seq
MIRT1977596	hsa-miR-4646-3p	CLIP-seq
MIRT937995	hsa-miR-4655-5p	CLIP-seq
MIRT938005	hsa-miR-4717-3p	CLIP-seq
MIRT2212875	hsa-miR-4724-3p	CLIP-seq
MIRT2212876	hsa-miR-4732-3p	CLIP-seq
MIRT2212877	hsa-miR-4755-5p	CLIP-seq
MIRT938007	hsa-miR-4771	CLIP-seq
MIRT1977598	hsa-miR-4775	CLIP-seq
MIRT2212878	hsa-miR-4781-3p	CLIP-seq
MIRT2212879	hsa-miR-4791	CLIP-seq
MIRT1977599	hsa-miR-496	CLIP-seq
MIRT1977600	hsa-miR-499-3p	CLIP-seq
MIRT2212880	hsa-miR-499-5p	CLIP-seq
MIRT1977601	hsa-miR-499a-3p	CLIP-seq
MIRT2212881	hsa-miR-555	CLIP-seq
MIRT2212882	hsa-miR-561	CLIP-seq
MIRT938021	hsa-miR-580	CLIP-seq
MIRT938022	hsa-miR-607	CLIP-seq
MIRT938023	hsa-miR-613	CLIP-seq
MIRT938025	hsa-miR-636	CLIP-seq
MIRT938028	hsa-miR-655	CLIP-seq
MIRT938029	hsa-miR-662	CLIP-seq
MIRT2212883	hsa-miR-670	CLIP-seq
MIRT938031	hsa-miR-759	CLIP-seq
MIRT938032	hsa-miR-873	CLIP-seq
MIRT938033	hsa-miR-876-5p	CLIP-seq
MIRT2386925	hsa-miR-4495	CLIP-seq
MIRT937934	hsa-miR-1208	CLIP-seq
MIRT937936	hsa-miR-1283	CLIP-seq
MIRT2516786	hsa-miR-132	CLIP-seq
MIRT937942	hsa-miR-1910	CLIP-seq
MIRT2516787	hsa-miR-212	CLIP-seq
MIRT937947	hsa-miR-218	CLIP-seq
MIRT1977585	hsa-miR-2355-3p	CLIP-seq
MIRT937952	hsa-miR-23a	CLIP-seq
MIRT937953	hsa-miR-23b	CLIP-seq
MIRT937954	hsa-miR-23c	CLIP-seq
MIRT937960	hsa-miR-3127-5p	CLIP-seq
MIRT2516788	hsa-miR-361-5p	CLIP-seq
MIRT2516789	hsa-miR-3686	CLIP-seq
MIRT2516790	hsa-miR-380	CLIP-seq
MIRT2516791	hsa-miR-3919	CLIP-seq
MIRT2516792	hsa-miR-3924	CLIP-seq
MIRT937980	hsa-miR-3977	CLIP-seq
MIRT2516793	hsa-miR-4272	CLIP-seq
MIRT2516794	hsa-miR-4282	CLIP-seq
MIRT937984	hsa-miR-432	CLIP-seq
MIRT2386925	hsa-miR-4495	CLIP-seq
MIRT937991	hsa-miR-455-3p	CLIP-seq
MIRT937992	hsa-miR-4633-3p	CLIP-seq
MIRT1977596	hsa-miR-4646-3p	CLIP-seq
MIRT2516795	hsa-miR-4652-3p	CLIP-seq
MIRT938000	hsa-miR-4677-3p	CLIP-seq
MIRT938001	hsa-miR-4688	CLIP-seq
MIRT2212875	hsa-miR-4724-3p	CLIP-seq
MIRT2516796	hsa-miR-4742-3p	CLIP-seq
MIRT2516797	hsa-miR-4756-3p	CLIP-seq
MIRT2516798	hsa-miR-4760-3p	CLIP-seq
MIRT938011	hsa-miR-494	CLIP-seq
MIRT1977599	hsa-miR-496	CLIP-seq
MIRT938013	hsa-miR-513a-3p	CLIP-seq
MIRT938014	hsa-miR-548aa	CLIP-seq
MIRT938016	hsa-miR-548c-3p	CLIP-seq
MIRT2212882	hsa-miR-561	CLIP-seq
MIRT938018	hsa-miR-570	CLIP-seq
MIRT938021	hsa-miR-580	CLIP-seq
MIRT2516799	hsa-miR-587	CLIP-seq
MIRT938025	hsa-miR-636	CLIP-seq
MIRT2516800	hsa-miR-766	CLIP-seq
MIRT938032	hsa-miR-873	CLIP-seq
MIRT937933	hsa-miR-1	CLIP-seq
MIRT937934	hsa-miR-1208	CLIP-seq
MIRT937936	hsa-miR-1283	CLIP-seq
MIRT937942	hsa-miR-1910	CLIP-seq
MIRT937946	hsa-miR-206	CLIP-seq
MIRT937947	hsa-miR-218	CLIP-seq
MIRT1977585	hsa-miR-2355-3p	CLIP-seq
MIRT937952	hsa-miR-23a	CLIP-seq
MIRT937953	hsa-miR-23b	CLIP-seq
MIRT937954	hsa-miR-23c	CLIP-seq
MIRT937960	hsa-miR-3127-5p	CLIP-seq
MIRT937963	hsa-miR-3157-5p	CLIP-seq
MIRT2516788	hsa-miR-361-5p	CLIP-seq
MIRT937971	hsa-miR-3617	CLIP-seq
MIRT2516789	hsa-miR-3686	CLIP-seq
MIRT2516790	hsa-miR-380	CLIP-seq
MIRT937977	hsa-miR-3911	CLIP-seq
MIRT2516791	hsa-miR-3919	CLIP-seq
MIRT2516792	hsa-miR-3924	CLIP-seq
MIRT937980	hsa-miR-3977	CLIP-seq
MIRT2516793	hsa-miR-4272	CLIP-seq
MIRT2516794	hsa-miR-4282	CLIP-seq
MIRT937984	hsa-miR-432	CLIP-seq
MIRT937987	hsa-miR-4480	CLIP-seq
MIRT2386925	hsa-miR-4495	CLIP-seq
MIRT937991	hsa-miR-455-3p	CLIP-seq
MIRT937992	hsa-miR-4633-3p	CLIP-seq
MIRT1977596	hsa-miR-4646-3p	CLIP-seq
MIRT2516795	hsa-miR-4652-3p	CLIP-seq
MIRT937994	hsa-miR-4653-3p	CLIP-seq
MIRT938000	hsa-miR-4677-3p	CLIP-seq
MIRT938001	hsa-miR-4688	CLIP-seq
MIRT938002	hsa-miR-4691-3p	CLIP-seq
MIRT938003	hsa-miR-4694-5p	CLIP-seq
MIRT2679290	hsa-miR-4715-3p	CLIP-seq
MIRT2212875	hsa-miR-4724-3p	CLIP-seq
MIRT2516796	hsa-miR-4742-3p	CLIP-seq
MIRT2516797	hsa-miR-4756-3p	CLIP-seq
MIRT2516798	hsa-miR-4760-3p	CLIP-seq
MIRT938009	hsa-miR-4797-5p	CLIP-seq
MIRT938011	hsa-miR-494	CLIP-seq
MIRT1977599	hsa-miR-496	CLIP-seq
MIRT938013	hsa-miR-513a-3p	CLIP-seq
MIRT938014	hsa-miR-548aa	CLIP-seq
MIRT938016	hsa-miR-548c-3p	CLIP-seq
MIRT2212882	hsa-miR-561	CLIP-seq
MIRT938018	hsa-miR-570	CLIP-seq
MIRT938019	hsa-miR-571	CLIP-seq
MIRT938020	hsa-miR-574-5p	CLIP-seq
MIRT938021	hsa-miR-580	CLIP-seq
MIRT2516799	hsa-miR-587	CLIP-seq
MIRT938023	hsa-miR-613	CLIP-seq
MIRT938025	hsa-miR-636	CLIP-seq
MIRT938026	hsa-miR-641	CLIP-seq
MIRT938031	hsa-miR-759	CLIP-seq
MIRT2516800	hsa-miR-766	CLIP-seq
MIRT938032	hsa-miR-873	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004148	Function	Dihydrolipoyl dehydrogenase activity	IBA	21873635
GO:0004148	Function	Dihydrolipoyl dehydrogenase activity	IDA	16442803
GO:0005515	Function	Protein binding	IPI	16263718, 16442803, 28514442, 29128334, 32296183, 32814053
GO:0005634	Component	Nucleus	IDA	29211711
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0005739	Component	Mitochondrion	IBA	21873635
GO:0005739	Component	Mitochondrion	IDA	29211711
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006090	Process	Pyruvate metabolic process	TAS
GO:0006099	Process	Tricarboxylic acid cycle	TAS
GO:0006103	Process	2-oxoglutarate metabolic process	IEA
GO:0006120	Process	Mitochondrial electron transport, NADH to ubiquinone	IEA
GO:0006508	Process	Proteolysis	IEA
GO:0006554	Process	Lysine catabolic process	TAS
GO:0007369	Process	Gastrulation	IEA
GO:0007568	Process	Aging	IEA
GO:0009083	Process	Branched-chain amino acid catabolic process	TAS
GO:0009106	Process	Lipoate metabolic process	IEA
GO:0031514	Component	Motile cilium	IEA
GO:0034604	Function	Pyruvate dehydrogenase (NAD+) activity	IDA	9242632
GO:0042391	Process	Regulation of membrane potential	IEA
GO:0043159	Component	Acrosomal matrix	IEA
GO:0043544	Function	Lipoamide binding	IEA
GO:0045252	Component	Oxoglutarate dehydrogenase complex	IBA	21873635
GO:0045252	Component	Oxoglutarate dehydrogenase complex	IDA	29211711
GO:0045254	Component	Pyruvate dehydrogenase complex	IDA	9242632
GO:0045454	Process	Cell redox homeostasis	IEA
GO:0048240	Process	Sperm capacitation	IEA
GO:0050660	Function	Flavin adenine dinucleotide binding	IBA	21873635
GO:0051068	Process	Dihydrolipoamide metabolic process	IEA
GO:0051287	Function	NAD binding	IEA
GO:0061732	Process	Mitochondrial acetyl-CoA biosynthetic process from pyruvate	IC	9242632
GO:0106077	Process	Histone succinylation	IDA	29211711

Other IDs

• MIM: 238331
• HGNC: 2898
• e!Ensembl: ENSG00000091140

Protein

• UniProt ID: P09622
• Protein name: Dihydrolipoyl dehydrogenase, mitochondrial (EC 1.8.1.4) (Dihydrolipoamide dehydrogenase) (Glycine cleavage system L protein)
• Protein function: Lipoamide dehydrogenase is a component of the glycine cleavage system as well as an E3 component of three alpha-ketoacid dehydrogenase complexes (pyruvate-, alpha-ketoglutarate-, and branched-chain amino acid-dehydrogenase complex) (PubMed:15712
• PDB: 1ZMC, 1ZMD, 1ZY8, 2F5Z, 3RNM, 5J5Z, 5NHG, 6HG8, 6I4P, 6I4Q, 6I4R, 6I4S, 6I4T, 6I4U, 6I4Z, 7PSC, 7ZYT
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07992	Pyr_redox_2	42 → 370	Pyridine nucleotide-disulphide oxidoreductase	Domain
  PF02852	Pyr_redox_dim	389 → 498	Pyridine nucleotide-disulphide oxidoreductase, dimerisation domain	Domain

• Sequence:

  MQSWSRVYCSLAKRGHFNRISHGLQGLSAVPLRTYADQPIDADVTVIGSGPGGYVAAIKA
  AQLGFKTVCIEKNETLGGTCLNVGCIPSKALLNNSHYYHMAHGKDFASRGIEMSEVRLNL
  DKMMEQKSTAVKALTGGIAHLFKQNKVVHVNGYGKITGKNQVTATKADGGTQVIDTKNIL
  IATGSEVTPFPGITIDEDTIVSSTGALSLKKVPEKMVVIGAGVIGVELGSVWQRLGADVT
  AVEFLGHVGGVGIDMEISKNFQRILQKQGFKFKLNTKVTGATKKSDGKIDVSIEAASGGK
  AEVITCDVLLVCIGRRPFTKNLGLEELGIELDPRGRIPVNTRFQTKIPNIYAIGDVVAGP
  MLAHKAEDEGIICVEGMAGGAVHIDYNCVPSVIYTHPEVAWVGKSEEQLKEEGIEYKVGK
  FPFAANSRAKTNADTDGMVKILGQKSTDRVLGAHILGPGAGEMVNEAALALEYGASCEDI
  ARVCHAHPTLSEAFREANLAASFGKSINF

• Sequence length: 509

Pathways

KEGG:

Glycolysis / Gluconeogenesis
Citrate cycle (TCA cycle)
Glycine, serine and threonine metabolism
Valine, leucine and isoleucine degradation
Lysine degradation
Tryptophan metabolism
Pyruvate metabolism
Glyoxylate and dicarboxylate metabolism
Propanoate metabolism
One carbon pool by folate
Lipoic acid metabolism
Metabolic pathways
Carbon metabolism
2-Oxocarboxylic acid metabolism
Biosynthesis of cofactors

Reactome:

Regulation of pyruvate dehydrogenase (PDH) complex
Glyoxylate metabolism and glycine degradation
Signaling by Retinoic Acid
Glycine degradation
Pyruvate metabolism
Branched-chain amino acid catabolism
Lysine catabolism
Citric acid cycle (TCA cycle)

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Cardiomyopathy	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
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
Epileptic encephalopathy	Encephalopathies	rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625, rs121918626, rs121918629, rs121918632, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192242, rs118192185, rs118192188, rs118192246, rs118192186, rs118192194, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192215, rs118192216, rs118192239, rs397514458, rs387906686, rs202151337, rs121917957, rs121917929, rs121917927, rs121917966, rs121917941, rs121917964, rs121917943, rs121917965, rs121917918, rs121917963, rs121917911, rs121917912, rs121917986, rs121917987, rs121917913, rs121917945, rs121917996, rs121917975, rs121917919, rs121917993, rs121917915, rs121917995, rs121917976, rs121917994, rs121917926, rs121917951, rs121917952, rs121917980, rs121917921, rs121917935, rs121917936, rs121917984, rs121917937, rs121917985, rs121917938, rs121917928, rs121918753, rs121918781, rs121918782, rs121918784, rs121918734, rs121918788, rs121917969, rs121918775, rs121918786, rs121918796, rs121918745, rs121918740, rs121918741, rs121918789, rs121918742, rs121918791, rs121918811, rs121917922, rs121918744, rs121918778, rs121918767, rs121918779, rs121918770, rs121918783, rs121918773, rs121918793, rs267606051, rs398123585, rs398123588, rs398123593, rs587777164, rs587777219, rs587777310, rs587780446, rs587777492, rs587777495, rs587777577, rs267608501, rs587777721, rs587783192, rs587783200, rs104894745, rs587784453, rs587784454, rs587784438, rs587784440, rs727504136, rs727503974, rs727504140, rs727504173, rs201497300, rs786204967, rs794726739, rs794726845, rs779614747, rs794726726, rs794726763, rs794726754, rs794726760, rs794726759, rs199727342, rs794726800, rs794726752, rs794726825, rs794726809, rs794726696, rs794726699, rs794726705, rs794726784, rs794726779, rs794726821, rs146878122, rs794726816, rs794726744, rs794726854, rs794726710, rs794726733, rs542420576, rs794726772, rs794726842, rs794726718, rs794726761, rs794726697, rs794726775, rs397514459, rs767045134, rs794726766, rs794726742, rs794726730, rs794726778, rs794726736, rs794726773, rs794726790, rs794726826, rs794726753, rs794726799, rs794726844, rs794726782, rs794726798, rs794726824, rs794726827, rs794726803, rs794726711, rs794726762, rs786205598, rs863223345, rs794727128, rs794727337, rs794727361, rs794727444, rs794727740, rs794727792, rs794727970, rs863225068, rs796053181, rs796053130, rs796053048, rs796053086, rs796053103, rs796053043, rs796053085, rs796053035, rs796053031, rs796053029, rs796053022, rs139300715, rs796053014, rs1553522472, rs796053010, rs121917908, rs796053008, rs794726789, rs796053004, rs796053072, rs796052995, rs796053067, rs796052990, rs796052987, rs796052985, rs796053065, rs1553543316, rs796053064, rs796052977, rs796052976, rs796052973, rs796052972, rs781746113, rs796052960, rs796052959, rs796053054, rs1553551312, rs796052953, rs758871507, rs796053350, rs1554776228, rs796053352, rs796053390, rs796053353, rs796053359, rs796053361, rs796053366, rs796053367, rs796053370, rs796053368, rs796053373, rs796053376, rs796053377, rs1554768992, rs796053335, rs796053233, rs796053214, rs796053216, rs796053224, rs796053228, rs796053229, rs796052658, rs796052670, rs796052654, rs796052653, rs796052652, rs773171451, rs1555853593, rs759584387, rs796052650, rs118192233, rs796052657, rs796052644, rs796052645, rs796052641, rs796052640, rs775918190, rs796052636, rs796052626, rs796052623, rs796052621, rs796052620, rs796052618, rs796052617, rs796052663, rs797044983, rs797045013, rs797044878, rs797044951, rs797044873, rs797044938, rs797045969, rs118192212, rs863225037, rs863225036, rs863225030, rs863225031, rs864321707, rs864321712, rs869312684, rs869312920, rs869312939, rs878853250, rs878854263, rs878854262, rs751170778, rs878854974, rs878855236, rs1555794286, rs879255652, rs879255695, rs879255697, rs879255704, rs879255705, rs879255709, rs879255710, rs886039323, rs886039435, rs886039494, rs886039903, rs1135401734, rs1135401733, rs1135401732, rs886042004, rs886041716, rs886041961, rs886041668, rs886041246, rs886041339, rs886041766, rs886041262, rs886041715, rs886042528, rs886042605, rs886063501, rs1555850151, rs1057516123, rs1555853971, rs1057516115, rs1057516106, rs1057516105, rs1057516099, rs1057516098, rs1057516094, rs1057516089, rs1057516086, rs1057516085, rs1057516080, rs1057516079, rs1057516076, rs1057518325, rs1057517862, rs1057517849, rs1057518243, rs1057518258, rs1057517958, rs121917974, rs1057517959, rs796053374, rs1057517919, rs1057518489, rs1057518801, rs1057518816, rs759766243, rs1057518795, rs1057518985, rs1057519000, rs1057519269, rs1057519270, rs1057519452, rs375659415, rs1057519501, rs1057519528, rs1057519526, rs1057519527, rs1057519524, rs796053083, rs1057519529, rs1057519531, rs1057519547, rs1057519548, rs1057519545, rs1057519538, rs1057519539, rs1057519537, rs1057519540, rs1057519549, rs1057519550, rs1057519535, rs1057519536, rs1057519542, rs778291283, rs1057520486, rs794726765, rs750209664, rs121917753, rs1057521746, rs1057523858, rs1057520753, rs1057520413, rs1057521080, rs1057524599, rs778481061, rs768633670, rs796052655, rs1060502190, rs1060502183, rs121918780, rs1060502185, rs1057521537, rs1060502187, rs121918765, rs1060502182, rs121917981, rs1060502188, rs1060502189, rs1060503108, rs1060501724, rs1060501722, rs1060501723, rs1060501012, rs1060504137, rs1060500603, rs1060500602, rs1060499592, rs796053138, rs1064795579, rs1553520298, rs121918805, rs1064795733, rs1064796177, rs1064795735, rs1064794634, rs1064796384, rs1064796213, rs1064793923, rs1064794727, rs1064794533, rs1064795384, rs1555850842, rs1064794001, rs1064796151, rs1064795435, rs1064797284, rs1085307930, rs1085307730, rs1085307916, rs1085307876, rs1085307920, rs1131691773, rs1131691774, rs1131691675, rs1131691775, rs1131691693, rs1131691465, rs1131691830, rs1131691936, rs1057523728, rs1199412903, rs1555228303, rs1555507477, rs1554965669, rs1555499800, rs1553923787, rs922847767, rs368609628, rs1553286282, rs1266877537, rs794726749, rs1553551425, rs1553552390, rs1554778657, rs1555889130, rs1555881741, rs1553520320, rs1553522517, rs796053006, rs1553534296, rs1553541028, rs1553544579, rs1553551385, rs1553520380, rs1553525210, rs1553541473, rs761333438, rs1553520982, rs1553522321, rs1553520318, rs1553540503, rs1553540389, rs1553542199, rs1553543215, rs1553541172, rs1553549483, rs750901301, rs794726743, rs1553545660, rs1553561023, rs1553548096, rs1553552319, rs1553560760, rs1554037381, rs1554776948, rs1554778417, rs1057522982, rs1555219147, rs1555218657, rs1555850590, rs1555869758, rs1555873823, rs1553525325, rs794727813, rs1555228771, rs1553520530, rs1555870346, rs1555955296, rs1553551493, rs1555546796, rs1555870554, rs1555871832, rs77216276, rs1554689320, rs1554777496, rs1555881809, rs1553529461, rs12131800, rs1553517274, rs1555889127, rs1555951141, rs1553590192, rs1553531178, rs1555870470, rs927722314, rs1553523142, rs1041924436, rs1553544559, rs1553544821, rs1553520319, rs1553560677, rs1553521567, rs1553522331, rs1553519872, rs1553529426, rs1553519902, rs1553520029, rs1553545522, rs1553520439, rs146515561, rs1553549461, rs1553549834, rs1553546789, rs1553553614, rs1553560676, rs1553520227, rs1553524865, rs1553525036, rs1553560740, rs1553561016, rs1193718145, rs1554769099, rs936639741, rs1352024223, rs758779535, rs1555870506, rs747376305, rs1555869700, rs1555873656, rs1555873981, rs536000212, rs959316981, rs1554777470, rs1555889108, rs1559144583, rs1569219844, rs1564346538, rs1562159088, rs1559101839, rs1559114303, rs1559140110, rs1559140306, rs1043031572, rs121918756, rs1559199628, rs1559200672, rs796053095, rs1559210063, rs1559225495, rs1553549471, rs1559103294, rs1559105368, rs121918764, rs1559114837, rs1559122124, rs1559127505, rs1559128532, rs1559140855, rs1559149128, rs1559217391, rs1559220874, rs794726695, rs1559249734, rs1553553527, rs1559101585, rs1559110846, rs1559193050, rs1559216338, rs1559231284, rs148442069, rs1559105301, rs1559114202, rs121917954, rs1559195296, rs1553546763, rs1559238432, rs1559884460, rs1559887808, rs1564352002, rs1564349850, rs1564351103, rs1565933795, rs1565886685, rs1555228668, rs587777723, rs1564333757, rs375363057, rs1568932480, rs1568925719, rs770187706, rs1568864658, rs1568899375, rs118192209, rs1568932462, rs1568927747, rs1057518555, rs1559119345, rs1085307520, rs1559200901, rs970867558, rs1568940442, rs775162839, rs1568986619, rs1558308998, rs1553546668, rs1569017015, rs1569017045, rs1569017073, rs1555889090, rs1569017143, rs1569017148, rs1569017205, rs1179351306, rs1569017257, rs1569017337, rs1555889162, rs1568658507, rs1485894376, rs1561139569, rs1574716488, rs1553519865, rs1573946994, rs1573948129, rs121918812, rs1573950349, rs1573952908, rs1573964264, rs1573964628, rs372425457, rs1573984004, rs1574004452, rs1574005235, rs1574006637, rs1574006857, rs1574039742, rs121918801, rs1574051496, rs1574051665, rs1574060250, rs1574060717, rs1574169179, rs1574170908, rs121918774, rs1574192005, rs1574192998, rs1574201591, rs1574216450, rs1574223964, rs1574224274, rs1574225593, rs748267258, rs1553547380, rs1574263819, rs1574265144, rs762927460, rs1574266490, rs1574271827, rs1574302195, rs1574371399, rs1575603683, rs763339068, rs1588313568, rs1589416130, rs1592380672, rs1592148206, rs1592149793, rs1592149906, rs1592162415, rs1592162506, rs1596787821, rs1600755607, rs1600755429, rs1600731888, rs1601573302, rs1601566621, rs1601542702, rs1601542417, rs1600886270, rs1600766500, rs1574370981, rs1573962555, rs1574068971, rs1057524737, rs1574263047, rs1575601202, rs1554777464, rs1589393179, rs1597696047, rs1247507359, rs752927520, rs1473654961, rs1592380834, rs796053036, rs1573953706, rs1573973548, rs1573984110, rs1574007140, rs1574166948, rs745378416, rs1574209023, rs796053094, rs1574264920, rs1600714727, rs755159935, rs1574281711, rs779324355, rs1053767552, rs201894374, rs770456604, rs113094436, rs1578264574, rs1260191836, rs1578265048, rs1578265068, rs1578269200, rs1186496501, rs1578269761, rs756467468, rs1381665298, rs1578270476, rs1578274054, rs769243823, rs200059198, rs749975104, rs1578282133, rs1306655122, rs1600785769, rs1580990072, rs1584399108, rs1057519189, rs1595440453, rs1596872804, rs1597653264, rs1597676610, rs1599719527, rs1600755440, rs1600786071, rs770904422, rs1574525321, rs1840653547, rs749965674, rs1841611651, rs1841766225, rs1852152679, rs1853919580, rs1858669268, rs1941650264, rs1941714576, rs1938725748, rs2037920694, rs2037920791, rs2079949302, rs2079962041, rs2079972258, rs2080188103, rs2080189052, rs1057520773, rs2081071680, rs2081187047, rs2081187692, rs2081358991, rs2081378550, rs1698943949, rs1698602170, rs1698192456, rs1698176171, rs1369404945, rs1698003832, rs1698002491, rs1697999557, rs398123581, rs1697674296, rs1697473667, rs1697277384, rs1697160366, rs1697157422, rs1426666349, rs1697134047, rs1696883051, rs1696628056, rs794726823, rs1696403750, rs897883046, rs1696401617, rs1696356978, rs1696338792, rs1693176153, rs1692577292, rs1240187329, rs1553529527, rs1692166604, rs1691093633, rs1691039670, rs1690583220, rs1690345764, rs1690011364, rs1553521530, rs1553521051, rs1386425283, rs1573952473, rs1689300152, rs1689298888, rs1689285717, rs1689278461, rs1238612161, rs1689271621, rs1253117981, rs1689218857, rs1689211960, rs1689211569, rs1689200375, rs1689142827, rs1684673339, rs1684663586, rs1699367901, rs1553553462, rs1699149959, rs1698958802, rs746440689, rs1692586274, rs1697876590, rs727504142, rs1689985819, rs794726764, rs1704944478, rs1178244073, rs1840967817, rs2080693649, rs1938214529, rs2080696874, rs2081190512, rs1691073965, rs1689488709, rs1691048388, rs1692581621, rs1692870117, rs121918785, rs749539763, rs1842042825, rs2081190344, rs1600789325
Hypertrophic cardiomyopathy	Hypertrophic 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
Leigh syndrome	Leigh Disease	rs267606829, rs137852863, rs121908577, rs1445075330, rs121908985, rs104893898, rs28939679, rs104894705, rs1568985256, rs199476144, rs199474672, rs118192098, rs118192100, rs199476133, rs199476135, rs199476138, rs267606614, rs207459999, rs199476104, rs199476105, rs199476107, rs199476109, rs267606893, rs267606897, rs28384199, rs267606890, rs199476117, rs267606891, rs267606889, rs199476118, rs199476123, rs121918657, rs28933402, rs782316919, rs121913659, rs768050261, rs121913660, rs121913661, rs201431517, rs1556423632, rs587776949, rs201889294, rs398123061, rs398124308, rs587776434, rs587776438, rs587776440, rs1556423547, rs587776497, rs587776498, rs797045055, rs375169579, rs782490558, rs782190413, rs863224228, rs863224229, rs757486575, rs750831299, rs863224926, rs864309500, rs761389904, rs147816470, rs150613320, rs782623477, rs782007828, rs782349178, rs1057517942, rs199683937, rs1057521059, rs1057520688, rs781948238, rs782024654, rs782289759, rs1131692037, rs1161932777, rs1242159511, rs773850151, rs1553997617, rs1554768246, rs1410388157, rs1554059248, rs1554062427, rs1267554976, rs1391748504, rs376281345, rs772294726, rs1554768333, rs149718203, rs536758576, rs1555066709, rs1053850536, rs1564349176, rs782061187, rs762620949, rs1219762677, rs761097220, rs747359752, rs782609482, rs1229474296, rs782682492, rs1564349087, rs1588688823, rs1588691786, rs1603222000, rs1603223363, rs1603224017, rs1603220522, rs1603221804, rs1603222011, rs1603222119, rs1574663066, rs778120270, rs1574675683, rs1559047521, rs747249702, rs1244071473, rs1588693841, rs746519257, rs1591111808, rs766830864, rs1363125797, rs1836430953	27604308
Lissencephaly	LISSENCEPHALY 5	rs137853043, rs137853044, rs137853045, rs137853046, rs137853047, rs137853048, rs137853049, rs137853050, rs121434482, rs121434483, rs1567561137, rs121434485, rs121434486, rs121434487, rs121434489, rs121434490, rs104894779, rs104894780, rs104894781, rs122457137, rs104894782, rs56030372, rs104894786, rs113994203, rs113994200, rs113994198, rs113994202, rs281875328, rs281875329, rs387906840, rs756206942, rs749768828, rs397509412, rs398122369, rs587784484, rs587784483, rs587784482, rs587784481, rs587784497, rs587784495, rs587784494, rs587784492, rs587784488, rs587784486, rs587784485, rs587784491, rs576928842, rs587784265, rs587784260, rs587784262, rs587784272, rs587784285, rs369259961, rs587784250, rs587784252, rs587784253, rs587784257, rs587784256, rs587784258, rs587784259, rs587784261, rs587784263, rs587784264, rs587784266, rs587784267, rs587784268, rs587784269, rs200390886, rs587784270, rs587784271, rs587784273, rs587784274, rs587784275, rs587784276, rs587784277, rs587784278, rs587784281, rs587784279, rs587784280, rs587784282, rs587784284, rs587784286, rs587784287, rs587784289, rs587784291, rs587784290, rs587784292, rs587784293, rs587784294, rs587784235, rs587784236, rs587784237, rs587784238, rs587784239, rs587784240, rs587784241, rs587784242, rs587784244, rs587784243, rs587784245, rs587784247, rs587784248, rs587784249, rs587784251, rs587783592, rs587783590, rs587783589, rs587783568, rs587783558, rs104894784, rs587783534, rs587783519, rs794729199, rs797045005, rs797045177, rs797045178, rs797045061, rs797046071, rs797046073, rs797046072, rs797045529, rs797045866, rs797045857, rs797045858, rs797045859, rs797045861, rs797045863, rs797045864, rs797045865, rs797045867, rs797045868, rs797045869, rs797045870, rs797045871, rs797045872, rs1555527743, rs797045855, rs797045512, rs863224938, rs757725348, rs886039513, rs886041341, rs886043627, rs1057517696, rs1057517697, rs1057519417, rs754200057, rs1057517698, rs1057517843, rs1057520515, rs1064796460, rs1064793286, rs1064794568, rs1064796765, rs1064794223, rs1131691295, rs1555162507, rs1554126886, rs1555162294, rs1555162456, rs1456594953, rs1555526718, rs1555526733, rs1555527149, rs1556401744, rs1556401951, rs1555162325, rs1556405129, rs761786389, rs1555162323, rs1555526298, rs1555526309, rs1567559851, rs1565627513, rs1488808726, rs1557668270, rs1557670503, rs1557670515, rs1557670520, rs757604577, rs1565626928, rs1565627526, rs1565627727, rs1592260393, rs1565627777, rs1603423268, rs1592259391, rs2069271269, rs1942168488, rs1942171146, rs1942172759, rs1775537467, rs1774229245, rs1774228957, rs754052089, rs1774226763, rs1942166930, rs1942187200
Liver failure	Liver Failure	rs118203990, rs118203991, rs118203992, rs387907022, rs201861847, rs796065037, rs759315662, rs368196005, rs796052121, rs369437593, rs367683258, rs766314948, rs368085185, rs770446752, rs753039116, rs776797592, rs1490906786, rs1562849964, rs759960319, rs776597537, rs375350359, rs1573008071, rs1601977105, rs1174791046, rs1019313682
Maple syrup urine disease	Maple Syrup Urine Disease	rs137852870, rs137852871, rs137852872, rs137852874, rs137852875, rs79761867, rs121965004, rs121965005, rs1562242135, rs121964999, rs796052134, rs796052135, rs121965000, rs121965001, rs768832921, rs121965002, rs121965003, rs386834234, rs386834233, rs398123486, rs398123489, rs398123490, rs398123492, rs398123494, rs398123496, rs398123497, rs398123499, rs398123503, rs375785084, rs398123504, rs398123508, rs398123509, rs398123510, rs398123513, rs398123515, rs398123660, rs398123666, rs398123668, rs398123669, rs74103423, rs398123674, rs398123675, rs185492864, rs398123676, rs398124560, rs398124561, rs398124562, rs398124572, rs398124573, rs398124581, rs371518124, rs398124582, rs149766077, rs398124586, rs398124587, rs398124589, rs398124592, rs398124593, rs398124594, rs398124596, rs398124598, rs398124601, rs398124603, rs398124604, rs727503895, rs794727262, rs794727847, rs796051940, rs796051939, rs796051938, rs869312125, rs773048903, rs869312124, rs863225262, rs797045411, rs1554180622, rs869312128, rs869312127, rs869312130, rs148905512, rs869312131, rs869312129, rs869312132, rs753698250, rs1085307058, rs201559874, rs1057516781, rs1057516795, rs1057516731, rs1057517414, rs776631396, rs1057516799, rs1057516572, rs760538465, rs1057517124, rs376456598, rs1057519059, rs994415333, rs1060499715, rs753216964, rs1555767285, rs1554184224, rs1400121541, rs749033513, rs188135164, rs751953459, rs760494152, rs762084007, rs1555765593, rs1217050849, rs1553232188, rs867612284, rs1167005638, rs1553229661, rs1553232197, rs1553228653, rs1553233152, rs1553231037, rs754004231, rs749366506, rs1490661508, rs1553230841, rs1554194690, rs1554205499, rs190867671, rs1005542482, rs1554181192, rs774916970, rs1554181203, rs962489830, rs1224101411, rs1304667430, rs1380402024, rs1554190322, rs1582146275, rs940391887, rs1554184237, rs1554189447, rs1554205506, rs776270090, rs751599203, rs199599175, rs764247545, rs1555766993, rs1555767090, rs765543886, rs1555764014, rs1555767028, rs1330793674, rs1555767169, rs201168715, rs374625613, rs942815730, rs755691417, rs1410520713, rs774306610, rs1568499702, rs748851630, rs1202365275, rs1568503938, rs1568506608, rs1557943881, rs762199542, rs1570816218, rs1570836175, rs1582146989, rs1328608014, rs1599962569, rs1570806631, rs1570820579, rs1582275277, rs763645251, rs1401829291, rs1772747408, rs1774478421, rs2039372961, rs762419044, rs1770503105
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
Pyruvate dehydrogenase complex deficiency disease	Pyruvate dehydrogenase E3 deficiency	rs121964987, rs121964988, rs121964990, rs121964989, rs121964991, rs1328820332, rs121964992, rs121964993, rs397514649, rs397514650, rs397514651, rs111257462, rs764704217, rs753234219, rs1057516698, rs1057517214, rs1040811473, rs777884525, rs747810875, rs764611160, rs1554398193, rs1554398264, rs1554400713, rs1554396908, rs1554400699, rs1554400704, rs1554398624, rs1554396895, rs1554398461, rs1554398625, rs1554400179, rs1554400483, rs1562908173, rs780025714, rs748682601, rs1402761530, rs1214130226
Thrombophilia	Thrombophilia	rs118203912, rs118203911, rs121918141, rs121918142, rs121918143, rs121918144, rs121918145, rs121918146, rs121918147, rs121918148, rs121918149, rs121918151, rs121918152, rs121918153, rs121918154, rs1558715857, rs121918155, rs121918157, rs121918158, rs2104934553, rs121918159, rs121918160, rs121918477, rs121918473, rs121918474, rs267606981, rs2107137679, rs121918475, rs387906674, rs387907201, rs369504169, rs142742242, rs373983977, rs368074804, rs574132670, rs757583846, rs863224838, rs121918476, rs1333329860, rs1553424043, rs1553808038, rs5017717, rs374476971, rs1553809314, rs1553423955, rs767112991, rs1558718572, rs571278160, rs766261022, rs1321566264, rs1559926604, rs1241365457, rs759677822, rs1448630830, rs1305782685, rs1571577365, rs1247269491, rs777486993, rs201907715, rs769277939, rs199469503, rs1575904540, rs199469494, rs199469471, rs1189377845, rs1576182848, rs1688218776, rs1456533664, rs1709033502, rs1708668246, rs1708665916

Unknown
Disease term	Disease name	Evidence	References	Source
Leigh Syndrome	Leigh syndrome			GenCC
Ulcerative colitis	Ulcerative colitis			GWAS
Inflammatory Bowel Disease	Inflammatory Bowel Disease			GWAS
Dementia	Dementia			GWAS
Cholelithiasis	Cholelithiasis			GWAS
Colorectal Cancer	Colorectal Cancer	In summary, our data strongly demonstrated that upregulation of GRB7 conferred MEKi resistance in CRC cells with KRAS mutations by mediating RTK signaling through the recruitment of PLK1.		GWAS, CBGDA

Associations from Text Mining
Disease Name	Relationship Type	References
Abdominal Pain	Associate	40390331
Acidosis Lactic	Associate	40390331
Alzheimer Disease	Associate	37736681
Arthritis Rheumatoid	Associate	37547319
Breast Neoplasms	Associate	27110560, 35935587, 36312586
Carcinogenesis	Associate	38077227
Carcinoma Hepatocellular	Associate	27303803
Carcinoma Hepatocellular	Inhibit	27303803
Carcinoma Pancreatic Ductal	Associate	36826087
Carcinoma Renal Cell	Associate	36591111
Colorectal Neoplasms	Associate	38078879
COVID 19	Associate	38581529
Death	Associate	24012808
Diabetes Mellitus	Associate	37773841
Glioma	Associate	36270342, 38077227, 40355831
Heart Injuries	Associate	36988255
Hepatitis B	Associate	27303803
Hepatomegaly	Associate	40390331
Hyperglycinemia Nonketotic	Associate	29232014
Hypoglycemia	Associate	40390331
Inflammatory Bowel Diseases	Associate	37275904
Lactic Acidosis Congenital Infantile Due To LAD Deficiency	Associate	34684524, 39987041, 40390331
Leigh Disease	Associate	35792828
Liver Diseases	Associate	27303803
Liver Failure Acute	Associate	40390331
Lymphoma Large B Cell Diffuse	Associate	38581529
Maple Syrup Urine Disease	Associate	31830945
Melanoma	Associate	36431901
Metabolic Syndrome	Associate	24012808
Multiple Myeloma	Associate	40389878
Multiple System Atrophy	Associate	21930696
Myotonic Dystrophy	Associate	34462518
Nasopharyngeal Carcinoma	Associate	40083932
Nausea	Associate	40390331
Neoplasms	Associate	36591111, 38077227, 40389878
Neoplasms	Inhibit	38581529
Neural Tube Defects	Associate	29232014
Neurologic Manifestations	Associate	24012808
Parkinson Disease	Associate	26961748
Periodontitis	Associate	37215133
Polycystic Ovary Syndrome	Associate	33678329
Pyruvate Dehydrogenase Complex Deficiency Disease	Associate	16904023
Respiratory Insufficiency	Associate	21930696
Schizophrenia	Associate	29232014
Squamous Cell Carcinoma of Head and Neck	Associate	36618352
Stomach Neoplasms	Associate	26745502
Stomach Neoplasms	Stimulate	37505170
Testicular Germ Cell Tumor	Associate	38077227