LIAS (lipoic acid synthetase)

Gene

• Entrez ID: 11019
• Gene name: Lipoic acid synthetase
• Gene symbol: LIAS
• Synonyms: HGCLAS, HUSSY-01, LAS, LIP1, LS, PDHLD
• Chromosome: 4
• Chromosome location: 4p14
• Summary: The protein encoded by this gene belongs to the biotin and lipoic acid synthetases family. Localized in the mitochondrion, this iron-sulfur enzyme catalyzes the final step in the de novo pathway for the biosynthesis of lipoic acid, a potent antioxidant. T

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs146030265	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, coding sequence variant
rs546751789	G>A	Likely-pathogenic	Intron variant, genic downstream transcript variant, splice donor variant
rs796052703	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs869312808	T>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, missense variant
rs869320760	GAG>AAA	Pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, missense variant
rs961150638	G>C	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs965952835	G>A	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1057524792	T>G	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant, intron variant
rs1064793165	T>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant, intron variant
rs1553934199	A>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT028840	hsa-miR-26b-5p	Microarray	19088304
MIRT664803	hsa-miR-3609	HITS-CLIP	22927820
MIRT664802	hsa-miR-548ah-5p	HITS-CLIP	22927820
MIRT664801	hsa-miR-106a-5p	HITS-CLIP	22927820
MIRT664800	hsa-miR-106b-5p	HITS-CLIP	22927820
MIRT664799	hsa-miR-17-5p	HITS-CLIP	22927820
MIRT664798	hsa-miR-20a-5p	HITS-CLIP	22927820
MIRT664797	hsa-miR-20b-5p	HITS-CLIP	22927820
MIRT664796	hsa-miR-519d-3p	HITS-CLIP	22927820
MIRT664795	hsa-miR-526b-3p	HITS-CLIP	22927820
MIRT664794	hsa-miR-93-5p	HITS-CLIP	22927820
MIRT664793	hsa-miR-4796-3p	HITS-CLIP	22927820
MIRT706449	hsa-miR-302a-3p	HITS-CLIP	22927820
MIRT706448	hsa-miR-302b-3p	HITS-CLIP	22927820
MIRT706447	hsa-miR-302c-3p	HITS-CLIP	22927820
MIRT706446	hsa-miR-302d-3p	HITS-CLIP	22927820
MIRT706445	hsa-miR-302e	HITS-CLIP	22927820
MIRT706444	hsa-miR-372-3p	HITS-CLIP	22927820
MIRT706443	hsa-miR-373-3p	HITS-CLIP	22927820
MIRT706442	hsa-miR-520a-3p	HITS-CLIP	22927820
MIRT706441	hsa-miR-520b	HITS-CLIP	22927820
MIRT706440	hsa-miR-520c-3p	HITS-CLIP	22927820
MIRT706439	hsa-miR-520d-3p	HITS-CLIP	22927820
MIRT706438	hsa-miR-520e	HITS-CLIP	22927820
MIRT706437	hsa-miR-512-3p	HITS-CLIP	22927820
MIRT664792	hsa-miR-125a-3p	HITS-CLIP	22927820
MIRT664791	hsa-miR-764	HITS-CLIP	22927820
MIRT664790	hsa-miR-3934-5p	HITS-CLIP	22927820
MIRT664788	hsa-miR-5009-3p	HITS-CLIP	22927820
MIRT664789	hsa-miR-212-5p	HITS-CLIP	22927820
MIRT706436	hsa-miR-3653-5p	HITS-CLIP	22927820
MIRT706435	hsa-miR-619-5p	HITS-CLIP	22927820
MIRT706434	hsa-miR-6506-5p	HITS-CLIP	22927820
MIRT706433	hsa-miR-6790-3p	HITS-CLIP	22927820
MIRT706432	hsa-miR-6821-3p	HITS-CLIP	22927820
MIRT664787	hsa-miR-6791-3p	HITS-CLIP	22927820
MIRT664786	hsa-miR-6829-3p	HITS-CLIP	22927820
MIRT706431	hsa-miR-4731-5p	HITS-CLIP	22927820
MIRT706430	hsa-miR-5589-5p	HITS-CLIP	22927820
MIRT664784	hsa-miR-4757-5p	HITS-CLIP	22927820
MIRT664785	hsa-miR-6744-3p	HITS-CLIP	22927820
MIRT706429	hsa-miR-378a-5p	HITS-CLIP	22927820
MIRT664783	hsa-miR-640	HITS-CLIP	22927820
MIRT664782	hsa-miR-6878-3p	HITS-CLIP	22927820
MIRT664803	hsa-miR-3609	HITS-CLIP	23824327
MIRT664802	hsa-miR-548ah-5p	HITS-CLIP	23824327
MIRT664801	hsa-miR-106a-5p	HITS-CLIP	23824327
MIRT664800	hsa-miR-106b-5p	HITS-CLIP	23824327
MIRT664799	hsa-miR-17-5p	HITS-CLIP	23824327
MIRT664798	hsa-miR-20a-5p	HITS-CLIP	23824327
MIRT664797	hsa-miR-20b-5p	HITS-CLIP	23824327
MIRT664796	hsa-miR-519d-3p	HITS-CLIP	23824327
MIRT664795	hsa-miR-526b-3p	HITS-CLIP	23824327
MIRT664794	hsa-miR-93-5p	HITS-CLIP	23824327
MIRT664793	hsa-miR-4796-3p	HITS-CLIP	23824327
MIRT664792	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT664791	hsa-miR-764	HITS-CLIP	23824327
MIRT664790	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT664788	hsa-miR-5009-3p	HITS-CLIP	23824327
MIRT664789	hsa-miR-212-5p	HITS-CLIP	23824327
MIRT664787	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT664786	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT664784	hsa-miR-4757-5p	HITS-CLIP	23824327
MIRT664785	hsa-miR-6744-3p	HITS-CLIP	23824327
MIRT664783	hsa-miR-640	HITS-CLIP	23824327
MIRT664782	hsa-miR-6878-3p	HITS-CLIP	23824327
MIRT664781	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT664780	hsa-miR-6840-3p	HITS-CLIP	23824327
MIRT664779	hsa-miR-1915-3p	HITS-CLIP	23824327
MIRT664778	hsa-miR-6764-5p	HITS-CLIP	23824327
MIRT664777	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT664776	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT664775	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT664774	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT664773	hsa-miR-4284	HITS-CLIP	23824327
MIRT664772	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT664771	hsa-miR-8057	HITS-CLIP	23824327
MIRT664803	hsa-miR-3609	HITS-CLIP	22927820
MIRT664802	hsa-miR-548ah-5p	HITS-CLIP	22927820
MIRT664801	hsa-miR-106a-5p	HITS-CLIP	22927820
MIRT664800	hsa-miR-106b-5p	HITS-CLIP	22927820
MIRT664799	hsa-miR-17-5p	HITS-CLIP	22927820
MIRT664798	hsa-miR-20a-5p	HITS-CLIP	22927820
MIRT664797	hsa-miR-20b-5p	HITS-CLIP	22927820
MIRT664796	hsa-miR-519d-3p	HITS-CLIP	22927820
MIRT664795	hsa-miR-526b-3p	HITS-CLIP	22927820
MIRT664794	hsa-miR-93-5p	HITS-CLIP	22927820
MIRT664793	hsa-miR-4796-3p	HITS-CLIP	22927820
MIRT706449	hsa-miR-302a-3p	HITS-CLIP	22927820
MIRT706448	hsa-miR-302b-3p	HITS-CLIP	22927820
MIRT706447	hsa-miR-302c-3p	HITS-CLIP	22927820
MIRT706446	hsa-miR-302d-3p	HITS-CLIP	22927820
MIRT706445	hsa-miR-302e	HITS-CLIP	22927820
MIRT706444	hsa-miR-372-3p	HITS-CLIP	22927820
MIRT706443	hsa-miR-373-3p	HITS-CLIP	22927820
MIRT706442	hsa-miR-520a-3p	HITS-CLIP	22927820
MIRT706441	hsa-miR-520b	HITS-CLIP	22927820
MIRT706440	hsa-miR-520c-3p	HITS-CLIP	22927820
MIRT706439	hsa-miR-520d-3p	HITS-CLIP	22927820
MIRT706438	hsa-miR-520e	HITS-CLIP	22927820
MIRT706437	hsa-miR-512-3p	HITS-CLIP	22927820
MIRT664792	hsa-miR-125a-3p	HITS-CLIP	22927820
MIRT664791	hsa-miR-764	HITS-CLIP	22927820
MIRT664790	hsa-miR-3934-5p	HITS-CLIP	22927820
MIRT664788	hsa-miR-5009-3p	HITS-CLIP	22927820
MIRT664789	hsa-miR-212-5p	HITS-CLIP	22927820
MIRT706436	hsa-miR-3653-5p	HITS-CLIP	22927820
MIRT706435	hsa-miR-619-5p	HITS-CLIP	22927820
MIRT706434	hsa-miR-6506-5p	HITS-CLIP	22927820
MIRT706433	hsa-miR-6790-3p	HITS-CLIP	22927820
MIRT706432	hsa-miR-6821-3p	HITS-CLIP	22927820
MIRT664787	hsa-miR-6791-3p	HITS-CLIP	22927820
MIRT664786	hsa-miR-6829-3p	HITS-CLIP	22927820
MIRT706431	hsa-miR-4731-5p	HITS-CLIP	22927820
MIRT706430	hsa-miR-5589-5p	HITS-CLIP	22927820
MIRT664784	hsa-miR-4757-5p	HITS-CLIP	22927820
MIRT664785	hsa-miR-6744-3p	HITS-CLIP	22927820
MIRT706429	hsa-miR-378a-5p	HITS-CLIP	22927820
MIRT664783	hsa-miR-640	HITS-CLIP	22927820
MIRT664782	hsa-miR-6878-3p	HITS-CLIP	22927820
MIRT664803	hsa-miR-3609	HITS-CLIP	23824327
MIRT664802	hsa-miR-548ah-5p	HITS-CLIP	23824327
MIRT664801	hsa-miR-106a-5p	HITS-CLIP	23824327
MIRT664800	hsa-miR-106b-5p	HITS-CLIP	23824327
MIRT664799	hsa-miR-17-5p	HITS-CLIP	23824327
MIRT664798	hsa-miR-20a-5p	HITS-CLIP	23824327
MIRT664797	hsa-miR-20b-5p	HITS-CLIP	23824327
MIRT664796	hsa-miR-519d-3p	HITS-CLIP	23824327
MIRT664795	hsa-miR-526b-3p	HITS-CLIP	23824327
MIRT664794	hsa-miR-93-5p	HITS-CLIP	23824327
MIRT664793	hsa-miR-4796-3p	HITS-CLIP	23824327
MIRT664792	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT664791	hsa-miR-764	HITS-CLIP	23824327
MIRT664790	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT664788	hsa-miR-5009-3p	HITS-CLIP	23824327
MIRT664789	hsa-miR-212-5p	HITS-CLIP	23824327
MIRT664787	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT664786	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT664784	hsa-miR-4757-5p	HITS-CLIP	23824327
MIRT664785	hsa-miR-6744-3p	HITS-CLIP	23824327
MIRT664783	hsa-miR-640	HITS-CLIP	23824327
MIRT664782	hsa-miR-6878-3p	HITS-CLIP	23824327
MIRT664781	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT664780	hsa-miR-6840-3p	HITS-CLIP	23824327
MIRT664779	hsa-miR-1915-3p	HITS-CLIP	23824327
MIRT664778	hsa-miR-6764-5p	HITS-CLIP	23824327
MIRT664777	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT664776	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT664775	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT664774	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT664773	hsa-miR-4284	HITS-CLIP	23824327
MIRT664772	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT664771	hsa-miR-8057	HITS-CLIP	23824327
MIRT1109071	hsa-miR-1297	CLIP-seq
MIRT1109072	hsa-miR-1915	CLIP-seq
MIRT1109073	hsa-miR-197	CLIP-seq
MIRT1109074	hsa-miR-26a	CLIP-seq
MIRT1109075	hsa-miR-26b	CLIP-seq
MIRT1109076	hsa-miR-3167	CLIP-seq
MIRT1109077	hsa-miR-3187-3p	CLIP-seq
MIRT1109078	hsa-miR-3663-5p	CLIP-seq
MIRT1109079	hsa-miR-3934	CLIP-seq
MIRT1109080	hsa-miR-4435	CLIP-seq
MIRT1109081	hsa-miR-4465	CLIP-seq
MIRT1109082	hsa-miR-4701-5p	CLIP-seq
MIRT1109083	hsa-miR-4716-5p	CLIP-seq
MIRT1109084	hsa-miR-4755-3p	CLIP-seq
MIRT1109085	hsa-miR-4781-3p	CLIP-seq
MIRT1109086	hsa-miR-5096	CLIP-seq
MIRT1109087	hsa-miR-548s	CLIP-seq
MIRT1109088	hsa-miR-588	CLIP-seq
MIRT1109089	hsa-miR-876-5p	CLIP-seq
MIRT2030153	hsa-miR-106a	CLIP-seq
MIRT2030154	hsa-miR-106b	CLIP-seq
MIRT1109071	hsa-miR-1297	CLIP-seq
MIRT2030155	hsa-miR-17	CLIP-seq
MIRT1109072	hsa-miR-1915	CLIP-seq
MIRT1109073	hsa-miR-197	CLIP-seq
MIRT2030156	hsa-miR-20a	CLIP-seq
MIRT2030157	hsa-miR-20b	CLIP-seq
MIRT1109074	hsa-miR-26a	CLIP-seq
MIRT1109075	hsa-miR-26b	CLIP-seq
MIRT2030158	hsa-miR-302a	CLIP-seq
MIRT2030159	hsa-miR-302b	CLIP-seq
MIRT2030160	hsa-miR-302c	CLIP-seq
MIRT2030161	hsa-miR-302d	CLIP-seq
MIRT1109076	hsa-miR-3167	CLIP-seq
MIRT1109077	hsa-miR-3187-3p	CLIP-seq
MIRT1109078	hsa-miR-3663-5p	CLIP-seq
MIRT2030162	hsa-miR-372	CLIP-seq
MIRT2030163	hsa-miR-373	CLIP-seq
MIRT1109079	hsa-miR-3934	CLIP-seq
MIRT2030164	hsa-miR-4269	CLIP-seq
MIRT2030165	hsa-miR-4301	CLIP-seq
MIRT1109080	hsa-miR-4435	CLIP-seq
MIRT2030166	hsa-miR-4438	CLIP-seq
MIRT1109081	hsa-miR-4465	CLIP-seq
MIRT1109082	hsa-miR-4701-5p	CLIP-seq
MIRT1109083	hsa-miR-4716-5p	CLIP-seq
MIRT2030167	hsa-miR-4740-3p	CLIP-seq
MIRT1109084	hsa-miR-4755-3p	CLIP-seq
MIRT1109085	hsa-miR-4781-3p	CLIP-seq
MIRT2030168	hsa-miR-5095	CLIP-seq
MIRT1109086	hsa-miR-5096	CLIP-seq
MIRT2030169	hsa-miR-519d	CLIP-seq
MIRT2030170	hsa-miR-548ah	CLIP-seq
MIRT1109087	hsa-miR-548s	CLIP-seq
MIRT1109088	hsa-miR-588	CLIP-seq
MIRT1109089	hsa-miR-876-5p	CLIP-seq
MIRT2030171	hsa-miR-93	CLIP-seq
MIRT1109071	hsa-miR-1297	CLIP-seq
MIRT1109072	hsa-miR-1915	CLIP-seq
MIRT2261034	hsa-miR-1976	CLIP-seq
MIRT1109074	hsa-miR-26a	CLIP-seq
MIRT1109075	hsa-miR-26b	CLIP-seq
MIRT2261035	hsa-miR-3128	CLIP-seq
MIRT2261036	hsa-miR-3135b	CLIP-seq
MIRT1109077	hsa-miR-3187-3p	CLIP-seq
MIRT2261037	hsa-miR-3616-3p	CLIP-seq
MIRT2261038	hsa-miR-3652	CLIP-seq
MIRT1109078	hsa-miR-3663-5p	CLIP-seq
MIRT2030164	hsa-miR-4269	CLIP-seq
MIRT2261039	hsa-miR-4279	CLIP-seq
MIRT2030165	hsa-miR-4301	CLIP-seq
MIRT2261040	hsa-miR-4430	CLIP-seq
MIRT1109080	hsa-miR-4435	CLIP-seq
MIRT2030166	hsa-miR-4438	CLIP-seq
MIRT1109081	hsa-miR-4465	CLIP-seq
MIRT1109082	hsa-miR-4701-5p	CLIP-seq
MIRT2261041	hsa-miR-4720-5p	CLIP-seq
MIRT2261042	hsa-miR-4722-3p	CLIP-seq
MIRT2030167	hsa-miR-4740-3p	CLIP-seq
MIRT1109084	hsa-miR-4755-3p	CLIP-seq
MIRT2261043	hsa-miR-4799-3p	CLIP-seq
MIRT2030168	hsa-miR-5095	CLIP-seq
MIRT1109087	hsa-miR-548s	CLIP-seq
MIRT1109088	hsa-miR-588	CLIP-seq
MIRT2261036	hsa-miR-3135b	CLIP-seq
MIRT2261037	hsa-miR-3616-3p	CLIP-seq
MIRT2261038	hsa-miR-3652	CLIP-seq
MIRT2261040	hsa-miR-4430	CLIP-seq
MIRT1109071	hsa-miR-1297	CLIP-seq
MIRT1109072	hsa-miR-1915	CLIP-seq
MIRT1109073	hsa-miR-197	CLIP-seq
MIRT2561018	hsa-miR-2113	CLIP-seq
MIRT1109074	hsa-miR-26a	CLIP-seq
MIRT1109075	hsa-miR-26b	CLIP-seq
MIRT1109076	hsa-miR-3167	CLIP-seq
MIRT1109077	hsa-miR-3187-3p	CLIP-seq
MIRT2561019	hsa-miR-3591-5p	CLIP-seq
MIRT1109078	hsa-miR-3663-5p	CLIP-seq
MIRT2561020	hsa-miR-3681	CLIP-seq
MIRT1109079	hsa-miR-3934	CLIP-seq
MIRT1109080	hsa-miR-4435	CLIP-seq
MIRT2561021	hsa-miR-4460	CLIP-seq
MIRT1109081	hsa-miR-4465	CLIP-seq
MIRT1109082	hsa-miR-4701-5p	CLIP-seq
MIRT1109083	hsa-miR-4716-5p	CLIP-seq
MIRT2561022	hsa-miR-4727-3p	CLIP-seq
MIRT2561023	hsa-miR-4735-5p	CLIP-seq
MIRT1109084	hsa-miR-4755-3p	CLIP-seq
MIRT2561024	hsa-miR-4775	CLIP-seq
MIRT1109085	hsa-miR-4781-3p	CLIP-seq
MIRT1109086	hsa-miR-5096	CLIP-seq
MIRT1109087	hsa-miR-548s	CLIP-seq
MIRT1109088	hsa-miR-588	CLIP-seq
MIRT2561025	hsa-miR-590-3p	CLIP-seq
MIRT2561026	hsa-miR-599	CLIP-seq
MIRT1109089	hsa-miR-876-5p	CLIP-seq
MIRT1109071	hsa-miR-1297	CLIP-seq
MIRT1109072	hsa-miR-1915	CLIP-seq
MIRT1109073	hsa-miR-197	CLIP-seq
MIRT2261034	hsa-miR-1976	CLIP-seq
MIRT2561018	hsa-miR-2113	CLIP-seq
MIRT1109074	hsa-miR-26a	CLIP-seq
MIRT1109075	hsa-miR-26b	CLIP-seq
MIRT1109076	hsa-miR-3167	CLIP-seq
MIRT1109077	hsa-miR-3187-3p	CLIP-seq
MIRT2561019	hsa-miR-3591-5p	CLIP-seq
MIRT1109078	hsa-miR-3663-5p	CLIP-seq
MIRT2561020	hsa-miR-3681	CLIP-seq
MIRT1109079	hsa-miR-3934	CLIP-seq
MIRT2261039	hsa-miR-4279	CLIP-seq
MIRT1109080	hsa-miR-4435	CLIP-seq
MIRT2030166	hsa-miR-4438	CLIP-seq
MIRT2561021	hsa-miR-4460	CLIP-seq
MIRT1109081	hsa-miR-4465	CLIP-seq
MIRT2683885	hsa-miR-4477a	CLIP-seq
MIRT1109082	hsa-miR-4701-5p	CLIP-seq
MIRT1109083	hsa-miR-4716-5p	CLIP-seq
MIRT2261042	hsa-miR-4722-3p	CLIP-seq
MIRT2561022	hsa-miR-4727-3p	CLIP-seq
MIRT2561023	hsa-miR-4735-5p	CLIP-seq
MIRT1109084	hsa-miR-4755-3p	CLIP-seq
MIRT2561024	hsa-miR-4775	CLIP-seq
MIRT1109085	hsa-miR-4781-3p	CLIP-seq
MIRT2030168	hsa-miR-5095	CLIP-seq
MIRT1109086	hsa-miR-5096	CLIP-seq
MIRT1109087	hsa-miR-548s	CLIP-seq
MIRT2683886	hsa-miR-582-3p	CLIP-seq
MIRT1109088	hsa-miR-588	CLIP-seq
MIRT2561025	hsa-miR-590-3p	CLIP-seq
MIRT2561026	hsa-miR-599	CLIP-seq
MIRT1109089	hsa-miR-876-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001843	Process	Neural tube closure	IEA
GO:0005739	Component	Mitochondrion	IBA	21873635
GO:0005739	Component	Mitochondrion	ISS
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006954	Process	Inflammatory response	ISS
GO:0006979	Process	Response to oxidative stress	ISS
GO:0009107	Process	Lipoate biosynthetic process	IBA	21873635
GO:0009107	Process	Lipoate biosynthetic process	ISS
GO:0009249	Process	Protein lipoylation	IEA
GO:0016992	Function	Lipoate synthase activity	IBA	21873635
GO:0016992	Function	Lipoate synthase activity	ISS
GO:0032496	Process	Response to lipopolysaccharide	ISS
GO:0034641	Process	Cellular nitrogen compound metabolic process	TAS
GO:0046872	Function	Metal ion binding	IEA
GO:0051539	Function	4 iron, 4 sulfur cluster binding	IEA
GO:0102552	Function	Lipoyl synthase activity (acting on glycine-cleavage complex H protein	IEA
GO:0102553	Function	Lipoyl synthase activity (acting on pyruvate dehydrogenase E2 protein)	IEA

Other IDs

• MIM: 607031
• HGNC: 16429
• e!Ensembl: ENSG00000121897

Protein

• UniProt ID: O43766
• Protein name: Lipoyl synthase, mitochondrial (EC 2.8.1.8) (Lipoate synthase) (LS) (Lip-syn) (Lipoic acid synthase)
• Protein function: Catalyzes the radical-mediated insertion of two sulfur atoms into the C-6 and C-8 positions of the octanoyl moiety bound to the lipoyl domains of lipoate-dependent enzymes, thereby converting the octanoylated domains into lipoylated derivatives.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF16881	LIAS_N	4 → 111	N-terminal domain of lipoyl synthase of Radical_SAM family	Family
  PF04055	Radical_SAM	131 → 296	Radical SAM superfamily	Domain

• Sequence:

  MSLRCGDAARTLGPRVFGRYFCSPVRPLSSLPDKKKELLQNGPDLQDFVSGDLADRSTWD
  EYKGNLKRQKGERLRLPPWLKTEIPMGKNYNKLKNTLRNLNLHTVCEEARCPNIGECWGG
  GEYATATATIMLMGDTCTRGCRFCSVKTARNPPPLDASEPYNTAKAIAEWGLDYVVLTSV
  DRDDMPDGGAEHIAKTVSYLKERNPKILVECLTPDFRGDLKAIEKVALSGLDVYAHNVET
  VPELQSKVRDPRANFDQSLRVLKHAKKVQPDVISKTSIMLGLGENDEQVYATMKALREAD
  VDCLTLGQYMQPTRRHLKVEEYITPEKFKYWEKVGNELGFHYTASGPLVRSSYKAGEFFL
  KNLVAKRKTKDL

• Sequence length: 372

Pathways

KEGG:

Lipoic acid metabolism
Metabolic pathways
Biosynthesis of cofactors

Reactome:

Glyoxylate metabolism and glycine degradation

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Developmental delay	Profound 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
Lipoic acid synthetase deficiency	Lipoic acid synthetase deficiency	rs869320760, rs965952835, rs1553934069, rs1553934199, rs960319940, rs546751789
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

Unknown
Disease name	Disease term	dbSNP ID	References
Dyssomnia	Dyssomnias
Hyperglycinemia, lactic acidosis, and seizures	HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES		30914295, 27604308, 27923773, 24334290, 24777537, 22152680
Motor delay	Clumsiness - motor delay
Sleep disorders	Sleep Disorders
Spastic quadriplegia	Spastic Quadriplegia