SERAC1 (serine active site containing 1)

Gene

• Entrez ID: 84947
• Gene name: Serine active site containing 1
• Gene symbol: SERAC1
• Synonyms (NCBI Gene): -
• Chromosome: 6
• Chromosome location: 6q25.3
• Summary: The protein encoded by this gene is a phosphatidylglycerol remodeling protein found at the interface of mitochondria and endoplasmic reticula, where it mediates phospholipid exchange. The encoded protein plays a major role in mitochondrial function and in

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs139301835	G>A,C,T	Likely-pathogenic, uncertain-significance	Non coding transcript variant, synonymous variant, 5 prime UTR variant, genic upstream transcript variant, stop gained, missense variant, coding sequence variant
rs199632531	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs201941476	C>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs387907236	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs529232938	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, stop gained
rs758745099	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs761964407	->ATAG	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs767780913	AG>-,AGAG	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs768913919	C>G,T	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs772296795	GACT>-	Pathogenic	Intron variant, splice acceptor variant, coding sequence variant, non coding transcript variant
rs780275814	->GATA	Pathogenic	Non coding transcript variant, intron variant, frameshift variant, coding sequence variant
rs780783562	TTAC>-,TTACTTAC	Likely-pathogenic	Splice donor variant, intron variant
rs797045105	->CATG	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs886041750	->AT	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1057523999	G>A,T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, missense variant
rs1057524000	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1131690799	C>G	Pathogenic	Intron variant, splice donor variant
rs1199625391	AAG>-	Pathogenic	Coding sequence variant, non coding transcript variant, inframe deletion
rs1220930025	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1554260851	GAGTGAATACCTGCTGA>CCTGTTGGT	Likely-pathogenic	Splice donor variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant, intron variant
rs1554261245	A>G	Likely-pathogenic	Splice donor variant
rs1554265452	A>G	Likely-pathogenic	Genic upstream transcript variant, intron variant
rs1562458862	G>A	Pathogenic	Genic upstream transcript variant, intron variant
rs1562458915	C>G	Pathogenic	Genic upstream transcript variant, intron variant
rs1583555500	->T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1583589537	A>T	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1583595091	G>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019450	hsa-miR-148b-3p	Microarray	17612493
MIRT021468	hsa-miR-9-5p	Microarray	17612493
MIRT023363	hsa-miR-122-5p	Microarray	17612493
MIRT024800	hsa-miR-215-5p	Microarray	19074876
MIRT026696	hsa-miR-192-5p	Microarray	19074876
MIRT030978	hsa-miR-21-5p	Microarray	18591254
MIRT456495	hsa-miR-556-5p	PAR-CLIP	23592263
MIRT456494	hsa-miR-4433a-3p	PAR-CLIP	23592263
MIRT456493	hsa-miR-665	PAR-CLIP	23592263
MIRT456491	hsa-miR-6840-3p	PAR-CLIP	23592263
MIRT456492	hsa-miR-1225-3p	PAR-CLIP	23592263
MIRT456490	hsa-miR-1233-3p	PAR-CLIP	23592263
MIRT456489	hsa-miR-610	PAR-CLIP	23592263
MIRT456488	hsa-miR-655-5p	PAR-CLIP	23592263
MIRT456487	hsa-miR-377-5p	PAR-CLIP	23592263
MIRT456485	hsa-miR-6086	PAR-CLIP	23592263
MIRT456486	hsa-miR-1304-5p	PAR-CLIP	23592263
MIRT456484	hsa-miR-34b-3p	PAR-CLIP	23592263
MIRT456483	hsa-miR-4310	PAR-CLIP	23592263
MIRT456482	hsa-miR-7157-5p	PAR-CLIP	23592263
MIRT456481	hsa-miR-3190-5p	PAR-CLIP	23592263
MIRT456479	hsa-miR-3176	PAR-CLIP	23592263
MIRT456480	hsa-miR-3922-3p	PAR-CLIP	23592263
MIRT456478	hsa-miR-6804-5p	PAR-CLIP	23592263
MIRT456477	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT456476	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT456475	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT456474	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT456473	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT456472	hsa-miR-6799-5p	PAR-CLIP	23592263
MIRT456471	hsa-miR-30c-1-3p	PAR-CLIP	23592263
MIRT456470	hsa-miR-30c-2-3p	PAR-CLIP	23592263
MIRT456469	hsa-miR-6788-5p	PAR-CLIP	23592263
MIRT456468	hsa-miR-1273h-5p	PAR-CLIP	23592263
MIRT456467	hsa-miR-30b-3p	PAR-CLIP	23592263
MIRT456466	hsa-miR-3689a-3p	PAR-CLIP	23592263
MIRT456465	hsa-miR-3689b-3p	PAR-CLIP	23592263
MIRT456464	hsa-miR-3689c	PAR-CLIP	23592263
MIRT456463	hsa-miR-6779-5p	PAR-CLIP	23592263
MIRT456462	hsa-miR-6780a-5p	PAR-CLIP	23592263
MIRT456461	hsa-miR-450a-1-3p	PAR-CLIP	23592263
MIRT456460	hsa-miR-3122	PAR-CLIP	23592263
MIRT456459	hsa-miR-3913-5p	PAR-CLIP	23592263
MIRT456458	hsa-miR-887-5p	PAR-CLIP	23592263
MIRT456457	hsa-miR-6513-5p	PAR-CLIP	23592263
MIRT446078	hsa-miR-5007-5p	PAR-CLIP	22100165
MIRT449748	hsa-miR-4635	PAR-CLIP	22100165
MIRT446077	hsa-miR-548ao-5p	PAR-CLIP	22100165
MIRT446076	hsa-miR-548ax	PAR-CLIP	22100165
MIRT446075	hsa-miR-924	PAR-CLIP	22100165
MIRT446078	hsa-miR-5007-5p	PAR-CLIP	22100165
MIRT446077	hsa-miR-548ao-5p	PAR-CLIP	22100165
MIRT446076	hsa-miR-548ax	PAR-CLIP	22100165
MIRT446075	hsa-miR-924	PAR-CLIP	22100165
MIRT456495	hsa-miR-556-5p	PAR-CLIP	23592263
MIRT456494	hsa-miR-4433a-3p	PAR-CLIP	23592263
MIRT456493	hsa-miR-665	PAR-CLIP	23592263
MIRT456491	hsa-miR-6840-3p	PAR-CLIP	23592263
MIRT456492	hsa-miR-1225-3p	PAR-CLIP	23592263
MIRT456490	hsa-miR-1233-3p	PAR-CLIP	23592263
MIRT456489	hsa-miR-610	PAR-CLIP	23592263
MIRT456488	hsa-miR-655-5p	PAR-CLIP	23592263
MIRT456487	hsa-miR-377-5p	PAR-CLIP	23592263
MIRT456485	hsa-miR-6086	PAR-CLIP	23592263
MIRT456486	hsa-miR-1304-5p	PAR-CLIP	23592263
MIRT456484	hsa-miR-34b-3p	PAR-CLIP	23592263
MIRT456483	hsa-miR-4310	PAR-CLIP	23592263
MIRT456482	hsa-miR-7157-5p	PAR-CLIP	23592263
MIRT456481	hsa-miR-3190-5p	PAR-CLIP	23592263
MIRT456479	hsa-miR-3176	PAR-CLIP	23592263
MIRT456480	hsa-miR-3922-3p	PAR-CLIP	23592263
MIRT456478	hsa-miR-6804-5p	PAR-CLIP	23592263
MIRT456477	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT456476	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT456475	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT456474	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT456473	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT456472	hsa-miR-6799-5p	PAR-CLIP	23592263
MIRT456471	hsa-miR-30c-1-3p	PAR-CLIP	23592263
MIRT456470	hsa-miR-30c-2-3p	PAR-CLIP	23592263
MIRT456469	hsa-miR-6788-5p	PAR-CLIP	23592263
MIRT456468	hsa-miR-1273h-5p	PAR-CLIP	23592263
MIRT456467	hsa-miR-30b-3p	PAR-CLIP	23592263
MIRT456466	hsa-miR-3689a-3p	PAR-CLIP	23592263
MIRT456465	hsa-miR-3689b-3p	PAR-CLIP	23592263
MIRT456464	hsa-miR-3689c	PAR-CLIP	23592263
MIRT456463	hsa-miR-6779-5p	PAR-CLIP	23592263
MIRT456462	hsa-miR-6780a-5p	PAR-CLIP	23592263
MIRT456461	hsa-miR-450a-1-3p	PAR-CLIP	23592263
MIRT456460	hsa-miR-3122	PAR-CLIP	23592263
MIRT456459	hsa-miR-3913-5p	PAR-CLIP	23592263
MIRT456458	hsa-miR-887-5p	PAR-CLIP	23592263
MIRT456457	hsa-miR-6513-5p	PAR-CLIP	23592263
MIRT446078	hsa-miR-5007-5p	PAR-CLIP	22100165
MIRT449748	hsa-miR-4635	PAR-CLIP	22100165
MIRT446077	hsa-miR-548ao-5p	PAR-CLIP	22100165
MIRT446076	hsa-miR-548ax	PAR-CLIP	22100165
MIRT446075	hsa-miR-924	PAR-CLIP	22100165
MIRT446078	hsa-miR-5007-5p	PAR-CLIP	22100165
MIRT446077	hsa-miR-548ao-5p	PAR-CLIP	22100165
MIRT446076	hsa-miR-548ax	PAR-CLIP	22100165
MIRT446075	hsa-miR-924	PAR-CLIP	22100165
MIRT1337423	hsa-miR-10a	CLIP-seq
MIRT1337424	hsa-miR-10b	CLIP-seq
MIRT1337425	hsa-miR-1237	CLIP-seq
MIRT1337426	hsa-miR-1248	CLIP-seq
MIRT1337427	hsa-miR-1261	CLIP-seq
MIRT1337428	hsa-miR-1264	CLIP-seq
MIRT1337429	hsa-miR-1279	CLIP-seq
MIRT1337430	hsa-miR-128	CLIP-seq
MIRT1337431	hsa-miR-1283	CLIP-seq
MIRT1337432	hsa-miR-1285	CLIP-seq
MIRT1337433	hsa-miR-129-3p	CLIP-seq
MIRT1337434	hsa-miR-139-5p	CLIP-seq
MIRT1337435	hsa-miR-141	CLIP-seq
MIRT1337436	hsa-miR-153	CLIP-seq
MIRT1337437	hsa-miR-155	CLIP-seq
MIRT1337438	hsa-miR-15a	CLIP-seq
MIRT1337439	hsa-miR-15b	CLIP-seq
MIRT1337440	hsa-miR-16	CLIP-seq
MIRT1337441	hsa-miR-186	CLIP-seq
MIRT1337442	hsa-miR-195	CLIP-seq
MIRT1337443	hsa-miR-200a	CLIP-seq
MIRT1337444	hsa-miR-2110	CLIP-seq
MIRT1337445	hsa-miR-2681	CLIP-seq
MIRT1337446	hsa-miR-2682	CLIP-seq
MIRT1337447	hsa-miR-297	CLIP-seq
MIRT1337448	hsa-miR-3074-3p	CLIP-seq
MIRT1337449	hsa-miR-3133	CLIP-seq
MIRT1337450	hsa-miR-3149	CLIP-seq
MIRT1337451	hsa-miR-3150a-3p	CLIP-seq
MIRT1337452	hsa-miR-3170	CLIP-seq
MIRT1337453	hsa-miR-3182	CLIP-seq
MIRT1337454	hsa-miR-3185	CLIP-seq
MIRT1337455	hsa-miR-3187-5p	CLIP-seq
MIRT1337456	hsa-miR-339-5p	CLIP-seq
MIRT1337457	hsa-miR-34c-3p	CLIP-seq
MIRT1337458	hsa-miR-3613-3p	CLIP-seq
MIRT1337459	hsa-miR-3661	CLIP-seq
MIRT1337460	hsa-miR-3667-3p	CLIP-seq
MIRT1337461	hsa-miR-3675-5p	CLIP-seq
MIRT1337462	hsa-miR-3714	CLIP-seq
MIRT1337463	hsa-miR-371-5p	CLIP-seq
MIRT1337464	hsa-miR-3974	CLIP-seq
MIRT1337465	hsa-miR-424	CLIP-seq
MIRT1337466	hsa-miR-4252	CLIP-seq
MIRT1337467	hsa-miR-4260	CLIP-seq
MIRT1337468	hsa-miR-4267	CLIP-seq
MIRT1337469	hsa-miR-4307	CLIP-seq
MIRT1337470	hsa-miR-4421	CLIP-seq
MIRT1337471	hsa-miR-4422	CLIP-seq
MIRT1337472	hsa-miR-4450	CLIP-seq
MIRT1337473	hsa-miR-4453	CLIP-seq
MIRT1337474	hsa-miR-448	CLIP-seq
MIRT1337475	hsa-miR-449c	CLIP-seq
MIRT1337476	hsa-miR-4502	CLIP-seq
MIRT1337477	hsa-miR-4509	CLIP-seq
MIRT1337478	hsa-miR-4538	CLIP-seq
MIRT1337479	hsa-miR-4684-5p	CLIP-seq
MIRT1337480	hsa-miR-4722-3p	CLIP-seq
MIRT1337481	hsa-miR-4725-5p	CLIP-seq
MIRT1337482	hsa-miR-4744	CLIP-seq
MIRT1337483	hsa-miR-4763-5p	CLIP-seq
MIRT1337484	hsa-miR-4766-5p	CLIP-seq
MIRT1337485	hsa-miR-4786-5p	CLIP-seq
MIRT1337486	hsa-miR-4790-3p	CLIP-seq
MIRT1337487	hsa-miR-4793-3p	CLIP-seq
MIRT1337488	hsa-miR-494	CLIP-seq
MIRT1337489	hsa-miR-495	CLIP-seq
MIRT1337490	hsa-miR-497	CLIP-seq
MIRT1337491	hsa-miR-504	CLIP-seq
MIRT1337492	hsa-miR-508-5p	CLIP-seq
MIRT1337493	hsa-miR-548ac	CLIP-seq
MIRT1337494	hsa-miR-548ae	CLIP-seq
MIRT1337495	hsa-miR-548aj	CLIP-seq
MIRT1337496	hsa-miR-548am	CLIP-seq
MIRT1337497	hsa-miR-548c-3p	CLIP-seq
MIRT1337498	hsa-miR-548d-3p	CLIP-seq
MIRT1337499	hsa-miR-548v	CLIP-seq
MIRT1337500	hsa-miR-548x	CLIP-seq
MIRT1337501	hsa-miR-548z	CLIP-seq
MIRT1337502	hsa-miR-550a	CLIP-seq
MIRT1337503	hsa-miR-593	CLIP-seq
MIRT1337504	hsa-miR-612	CLIP-seq
MIRT1337505	hsa-miR-622	CLIP-seq
MIRT1337506	hsa-miR-631	CLIP-seq
MIRT1337507	hsa-miR-635	CLIP-seq
MIRT1337508	hsa-miR-766	CLIP-seq
MIRT1337509	hsa-miR-769-5p	CLIP-seq
MIRT1337510	hsa-miR-888	CLIP-seq
MIRT1337511	hsa-miR-940	CLIP-seq
MIRT1337427	hsa-miR-1261	CLIP-seq
MIRT2099817	hsa-miR-1292	CLIP-seq
MIRT1337441	hsa-miR-186	CLIP-seq
MIRT2099818	hsa-miR-2467-3p	CLIP-seq
MIRT1337445	hsa-miR-2681	CLIP-seq
MIRT1337448	hsa-miR-3074-3p	CLIP-seq
MIRT1337466	hsa-miR-4252	CLIP-seq
MIRT2099819	hsa-miR-4257	CLIP-seq
MIRT1337468	hsa-miR-4267	CLIP-seq
MIRT1337473	hsa-miR-4453	CLIP-seq
MIRT2099820	hsa-miR-4471	CLIP-seq
MIRT1337476	hsa-miR-4502	CLIP-seq
MIRT1337478	hsa-miR-4538	CLIP-seq
MIRT1337486	hsa-miR-4790-3p	CLIP-seq
MIRT1337487	hsa-miR-4793-3p	CLIP-seq
MIRT2099821	hsa-miR-4797-5p	CLIP-seq
MIRT1337492	hsa-miR-508-5p	CLIP-seq
MIRT2099822	hsa-miR-570	CLIP-seq
MIRT1337507	hsa-miR-635	CLIP-seq
MIRT1337508	hsa-miR-766	CLIP-seq
MIRT2324616	hsa-miR-1197	CLIP-seq
MIRT2324617	hsa-miR-1207-3p	CLIP-seq
MIRT2324618	hsa-miR-1233	CLIP-seq
MIRT1337427	hsa-miR-1261	CLIP-seq
MIRT1337429	hsa-miR-1279	CLIP-seq
MIRT2099817	hsa-miR-1292	CLIP-seq
MIRT2324619	hsa-miR-1304	CLIP-seq
MIRT1337441	hsa-miR-186	CLIP-seq
MIRT2324620	hsa-miR-2276	CLIP-seq
MIRT2324621	hsa-miR-23a	CLIP-seq
MIRT2324622	hsa-miR-23b	CLIP-seq
MIRT2324623	hsa-miR-23c	CLIP-seq
MIRT2099818	hsa-miR-2467-3p	CLIP-seq
MIRT1337445	hsa-miR-2681	CLIP-seq
MIRT1337447	hsa-miR-297	CLIP-seq
MIRT1337448	hsa-miR-3074-3p	CLIP-seq
MIRT2324624	hsa-miR-3137	CLIP-seq
MIRT1337450	hsa-miR-3149	CLIP-seq
MIRT2324625	hsa-miR-3179	CLIP-seq
MIRT2324626	hsa-miR-34b	CLIP-seq
MIRT2324627	hsa-miR-3686	CLIP-seq
MIRT1337462	hsa-miR-3714	CLIP-seq
MIRT2324628	hsa-miR-3907	CLIP-seq
MIRT2324629	hsa-miR-3976	CLIP-seq
MIRT1337466	hsa-miR-4252	CLIP-seq
MIRT2099819	hsa-miR-4257	CLIP-seq
MIRT1337468	hsa-miR-4267	CLIP-seq
MIRT2324630	hsa-miR-4433	CLIP-seq
MIRT1337473	hsa-miR-4453	CLIP-seq
MIRT2099820	hsa-miR-4471	CLIP-seq
MIRT2324631	hsa-miR-4497	CLIP-seq
MIRT1337476	hsa-miR-4502	CLIP-seq
MIRT1337478	hsa-miR-4538	CLIP-seq
MIRT2324632	hsa-miR-4772-3p	CLIP-seq
MIRT1337486	hsa-miR-4790-3p	CLIP-seq
MIRT1337487	hsa-miR-4793-3p	CLIP-seq
MIRT2099821	hsa-miR-4797-5p	CLIP-seq
MIRT1337492	hsa-miR-508-5p	CLIP-seq
MIRT2324633	hsa-miR-548a-3p	CLIP-seq
MIRT2324634	hsa-miR-548e	CLIP-seq
MIRT2324635	hsa-miR-548f	CLIP-seq
MIRT2099822	hsa-miR-570	CLIP-seq
MIRT2324636	hsa-miR-576-3p	CLIP-seq
MIRT1337507	hsa-miR-635	CLIP-seq
MIRT2324637	hsa-miR-760	CLIP-seq
MIRT1337508	hsa-miR-766	CLIP-seq
MIRT1337445	hsa-miR-2681	CLIP-seq
MIRT1337448	hsa-miR-3074-3p	CLIP-seq
MIRT2620319	hsa-miR-1252	CLIP-seq
MIRT2620320	hsa-miR-22	CLIP-seq
MIRT1337445	hsa-miR-2681	CLIP-seq
MIRT1337448	hsa-miR-3074-3p	CLIP-seq
MIRT2620321	hsa-miR-3123	CLIP-seq
MIRT2620322	hsa-miR-3154	CLIP-seq
MIRT1337454	hsa-miR-3185	CLIP-seq
MIRT1337458	hsa-miR-3613-3p	CLIP-seq
MIRT2620323	hsa-miR-3622b-5p	CLIP-seq
MIRT1337462	hsa-miR-3714	CLIP-seq
MIRT1337466	hsa-miR-4252	CLIP-seq
MIRT1337468	hsa-miR-4267	CLIP-seq
MIRT1337473	hsa-miR-4453	CLIP-seq
MIRT1337478	hsa-miR-4538	CLIP-seq
MIRT2620324	hsa-miR-4540	CLIP-seq
MIRT2620325	hsa-miR-455-5p	CLIP-seq
MIRT1337487	hsa-miR-4793-3p	CLIP-seq
MIRT2099821	hsa-miR-4797-5p	CLIP-seq
MIRT1337492	hsa-miR-508-5p	CLIP-seq
MIRT1337502	hsa-miR-550a	CLIP-seq
MIRT2099822	hsa-miR-570	CLIP-seq
MIRT1337507	hsa-miR-635	CLIP-seq
MIRT1337508	hsa-miR-766	CLIP-seq
MIRT1337436	hsa-miR-153	CLIP-seq
MIRT2620321	hsa-miR-3123	CLIP-seq
MIRT1337457	hsa-miR-34c-3p	CLIP-seq
MIRT1337458	hsa-miR-3613-3p	CLIP-seq
MIRT1337466	hsa-miR-4252	CLIP-seq
MIRT1337468	hsa-miR-4267	CLIP-seq
MIRT1337469	hsa-miR-4307	CLIP-seq
MIRT1337473	hsa-miR-4453	CLIP-seq
MIRT1337474	hsa-miR-448	CLIP-seq
MIRT1337478	hsa-miR-4538	CLIP-seq
MIRT1337487	hsa-miR-4793-3p	CLIP-seq
MIRT2099821	hsa-miR-4797-5p	CLIP-seq
MIRT1337492	hsa-miR-508-5p	CLIP-seq
MIRT1337507	hsa-miR-635	CLIP-seq
MIRT1337508	hsa-miR-766	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003674	Function	Molecular_function	ND
GO:0005739	Component	Mitochondrion	IDA	22683713
GO:0005783	Component	Endoplasmic reticulum	IDA	22683713
GO:0008654	Process	Phospholipid biosynthetic process	IEA
GO:0016021	Component	Integral component of membrane	IEA
GO:0030198	Process	Extracellular matrix organization	IEA
GO:0031012	Component	Extracellular matrix	IEA
GO:0032367	Process	Intracellular cholesterol transport	IMP	22683713
GO:0036148	Process	Phosphatidylglycerol acyl-chain remodeling	IMP	22683713
GO:0044233	Component	Mitochondria-associated endoplasmic reticulum membrane	IDA	22683713

Other IDs

• MIM: 614725
• HGNC: 21061
• e!Ensembl: ENSG00000122335

Protein

• UniProt ID: Q96JX3
• Protein name: Protein SERAC1 (Serine active site-containing protein 1)
• Protein function: Facilitates the transport of serine from the cytosol to the mitochondria by interacting with and stabilizing Sideroflexin-1 (SFXN1), a mitochondrial serine transporter, playing a fundamental role in the one-carbon cycle responsible for the synth
• Tissue specificity: TISSUE SPECIFICITY: Widely expressed, with predominant expression in skeletal muscle and brain (PubMed:22683713, PubMed:35235340). In the brain, highest levels are found in the frontal and occipital cortices, cerebellum and hippocampus (PubMed:22683713).
• Sequence:

  MSLAAYCVICCRRIGTSTSPPKSGTHWRDIRNIIKFTGSLILGGSLFLTYEVLALKKAVT
  LDTQVVEREKMKSYIYVHTVSLDKGENHGIAWQARKELHKAVRKVLATSAKILRNPFADP
  FSTVDIEDHECAVWLLLRKSKSDDKTTRLEAVREMSETHHWHDYQYRIIAQACDPKTLIG
  LARSEESDLRFFLLPPPLPSLKEDSSTEEELRQLLASLPQTELDECIQYFTSLALSESSQ
  SLAAQKGGLWCFGGNGLPYAESFGEVPSATVEMFCLEAIVKHSEISTHCDKIEANGGLQL
  LQRLYRLHKDCPKVQRNIMRVIGNMALNEHLHSSIVRSGWVSIMAEAMKSPHIMESSHAA
  RILANLDRETVQEKYQDGVYVLHPQYRTSQPIKADVLFIHGLMGAAFKTWRQQDSEQAVI
  EKPMEDEDRYTTCWPKTWLAKDCPALRIISVEYDTSLSDWRARCPMERKSIAFRSNELLR
  KLRAAGVGDRPVVWISHSMGGLLVKKMLLEASTKPEMSTVINNTRGIIFYSVPHHGSRLA
  EYSVNIRYLLFPSLEVKELSKDSPALKTLQDDFLEFAKDKNFQVLNFVETLPTYIGSMIK
  LHVVPVESADLGIGDLIPVDVNHLNICKPKKKDAFLYQRTLQFIREALAKDLEN

• Sequence length: 654

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
3-methylglutaconic aciduria with sensorineural deafness, encephalopathy and leigh-like syndrome	3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome	rs387907236, rs772296795, rs1199625391, rs529232938, rs797045105, rs767780913, rs780275814, rs199632531, rs886041750, rs1554260851, rs761964407, rs1131690799, rs1220930025, rs758745099, rs1554265452, rs1562458915, rs1562458862, rs779302645, rs201941476, rs1583595091, rs1583589537, rs780664696	27604308, 27186703, 16527507
Deafness	Prelingual Deafness, Deafness, Acquired, Deaf Mutism	rs267607135, rs387906219, rs387906220, rs387906221, rs387906222, rs606231120, rs267606855, rs121918370, rs137853185, rs137853186, rs137853187, rs137853188, rs587776522, rs587776523, rs200781822, rs118203957, rs111706634, rs118203988, rs1559365985, rs118203989, rs1559371613, rs1559372640, rs1559366000, rs118204026, rs118204027, rs118204028, rs118204029, rs118204030, rs118204031, rs1601632909, rs779841884, rs104893975, rs1581972457, rs1562687726, rs1562687295, rs398122997, rs119103279, rs28940307, rs137852839, rs121918339, rs876661301, rs28942097, rs28941781, rs876657371, rs267607120, rs1567381218, rs193919333, rs1564568849, rs1023746725, rs121908072, rs121908073, rs1169090943, rs121908076, rs786200882, rs786200883, rs1569770998, rs1569726455, rs121908134, rs121908136, rs1569771486, rs1569712066, rs28937893, rs104893883, rs104893882, rs74315205, rs1584317722, rs111033308, rs80338848, rs28939086, rs80338849, rs111033244, rs111033303, rs121908364, rs121908362, rs121908363, rs765884316, rs111033307, rs111033348, rs2129315781, rs121908365, rs111033199, rs111033254, rs111033205, rs111033313, rs121908366, rs111033212, rs786200885, rs74315437, rs111033270, rs121908348, rs121908349, rs111033271, rs121908351, rs121908352, rs121908354, rs137853001, rs199469706, rs137853002, rs137853003, rs137852999, rs28939084, rs137853000, rs1480243085, rs397515359, rs151045328, rs121908370, rs104894414, rs80356600, rs80356584, rs2147483647, rs80356605, rs80356593, rs28937591, rs80356602, rs80356596, rs80356586, rs2128781753, rs28937588, rs80358277, rs28939710, rs80358271, rs80358278, rs80358276, rs80358272, rs80358279, rs121908927, rs121908929, rs28938175, rs121908930, rs121908932, rs121908934, rs121908965, rs121908966, rs121908967, rs121908968, rs748108031, rs121908969, rs121908971, rs769884586, rs121908972, rs746051220, rs1270302810, rs1567664131, rs121909058, rs966621865, rs121909059, rs121909060, rs1591437831, rs1281790755, rs121909061, rs121909063, rs1591462832, rs398124631, rs121909056, rs121909057, rs137853073, rs121909110, rs121909111, rs1476157529, rs104894478, rs80356460, rs121912557, rs1562201376, rs121912558, rs121912561, rs1562283089, rs121965079, rs41298133, rs28934610, rs121965081, rs2135550200, rs121965082, rs2135478294, rs121965084, rs1555102843, rs121918379, rs1372141763, rs121918380, rs1191259480, rs267607037, rs80338834, rs80338829, rs80338828, rs80338831, rs121913657, rs137853235, rs1788701297, rs35887622, rs80338944, rs104894396, rs104894397, rs80338939, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs886037624, rs80338943, rs80338945, rs104894401, rs104894406, rs104894407, rs72474224, rs886037625, rs28931595, rs28931593, rs80338940, rs104894413, rs104894409, rs72561723, rs121912947, rs121912948, rs121912950, rs28999111, rs104894544, rs104894545, rs104894546, rs104894547, rs267606630, rs267606631, rs267606932, rs1801002, rs80338941, rs80356587, rs80356590, rs80356591, rs80356595, rs80356594, rs80356598, rs281875328, rs281875329, rs80338950, rs201539845, rs387906700, rs387906915, rs387906930, rs387906999, rs387907000, rs748150647, rs387907001, rs946085339, rs387907002, rs387907015, rs387907016, rs387907017, rs75949023, rs387907088, rs149258390, rs387907149, rs782540538, rs397515411, rs370965183, rs397515412, rs1233562246, rs397514588, rs902734999, rs397514599, rs1029389440, rs397514607, rs397514608, rs397515435, rs111033206, rs111033201, rs397516295, rs111033437, rs111033233, rs199897298, rs111033214, rs111033178, rs111033347, rs111033187, rs111033174, rs111033448, rs111033182, rs397516317, rs368657015, rs397516322, rs111033215, rs111033232, rs397516326, rs111033283, rs111033285, rs397516411, rs111033314, rs397516413, rs397516414, rs111033305, rs111033220, rs111033311, rs111033306, rs397516416, rs397516417, rs111033407, rs397516418, rs111033316, rs111033312, rs397516420, rs111033257, rs397516421, rs397516424, rs111033309, rs111033318, rs397516427, rs111033241, rs111033302, rs145254330, rs111033380, rs111033242, rs111033256, rs111033454, rs111033245, rs111033297, rs111033451, rs111033293, rs111033361, rs397516871, rs111033299, rs111033204, rs111033253, rs397516873, rs104894408, rs111033295, rs397516874, rs76434661, rs111033217, rs111033420, rs111033335, rs111033294, rs111033190, rs111033401, rs200451098, rs397517287, rs373462792, rs372466080, rs397517323, rs56264519, rs374793617, rs201632198, rs147231991, rs181949335, rs397517452, rs202033121, rs151001642, rs370898981, rs188119157, rs111033383, rs111033405, rs199766465, rs111033373, rs111033349, rs587777040, rs397515581, rs397515582, rs1443739332, rs397515583, rs397515589, rs397515590, rs397515591, rs201329629, rs397515596, rs397515598, rs199848801, rs397515601, rs147321712, rs143939430, rs397515605, rs397515608, rs397515609, rs397515610, rs1648206560, rs398122967, rs398123006, rs398123070, rs431905513, rs431905517, rs431905518, rs200656442, rs587777147, rs199700840, rs1064792854, rs483352866, rs483353048, rs483353050, rs483353049, rs587777424, rs587777691, rs587777692, rs202138002, rs281865414, rs183258549, rs137853969, rs587783647, rs587783646, rs143343083, rs606231308, rs606231410, rs794729665, rs724160024, rs724160022, rs724160025, rs724160021, rs724160020, rs724160026, rs724160018, rs724160016, rs724160015, rs724160014, rs200147906, rs397515597, rs727504567, rs727505088, rs727503430, rs727503428, rs727505273, rs545947177, rs727504301, rs727503329, rs727504709, rs376764423, rs727503066, rs730880338, rs727504302, rs148690740, rs139956283, rs727503442, rs199839039, rs727503443, rs377480477, rs727503444, rs727504304, rs372526764, rs727503493, rs377015931, rs201587138, rs373937326, rs727503309, rs201978571, rs727503315, rs727505104, rs727503062, rs111033403, rs797044491, rs797044512, rs730882242, rs786201027, rs794728016, rs539699299, rs786204504, rs786204581, rs370588279, rs786204421, rs746238617, rs786204730, rs542620119, rs786204600, rs146281367, rs786204474, rs786204601, rs786204450, rs786204739, rs368119540, rs200455203, rs752807925, rs786204523, rs748706627, rs786204597, rs771748289, rs773528125, rs786204690, rs756484720, rs786204491, rs781534323, rs104894395, rs111033296, rs371024165, rs368027306, rs371100799, rs786204841, rs786205880, rs786205881, rs772264564, rs794729637, rs875989828, rs869320674, rs797044960, rs1553165199, rs797044965, rs797044966, rs797044967, rs797044968, rs797044969, rs797044970, rs797044972, rs797044907, rs797045596, rs778909195, rs863225243, rs863225431, rs863225432, rs864309523, rs864309524, rs869312750, rs869312749, rs754391973, rs201650281, rs397516875, rs532203068, rs876657776, rs762352115, rs876657653, rs757820624, rs138527651, rs773404494, rs876657754, rs876657656, rs876657658, rs766753922, rs759174628, rs876657725, rs772536599, rs765468034, rs184435771, rs143797113, rs782255281, rs876661405, rs876661408, rs777112652, rs878853223, rs878853225, rs878853229, rs878853230, rs753896285, rs140236996, rs878853224, rs878853235, rs878853236, rs878853226, rs774312182, rs878853232, rs878853239, rs377385081, rs878853227, rs878853228, rs878853238, rs878853231, rs878854409, rs878854410, rs878854412, rs878854413, rs878854414, rs878854415, rs779445819, rs774518779, rs1554358720, rs374742590, rs750188782, rs886043441, rs886043616, rs763975867, rs370730786, rs886044666, rs886052676, rs201636911, rs1057516658, rs1057516953, rs1057516988, rs1057516881, rs768245266, rs912147281, rs777333979, rs777008062, rs147952620, rs142498437, rs1057517000, rs376653349, rs1057516243, rs1057517303, rs542079779, rs1057516472, rs770832663, rs758685587, rs1057516342, rs757027638, rs1057517261, rs1057517251, rs1057517264, rs138138689, rs377145777, rs201892914, rs376535635, rs1057517521, rs770116143, rs1057517508, rs767178508, rs199883710, rs1057517491, rs1057517519, rs371086981, rs1057517839, rs766631025, rs201895089, rs1057519601, rs1057519603, rs779077039, rs1057519604, rs1057519606, rs1057519607, rs1057523846, rs763797356, rs139805921, rs1060499651, rs751447996, rs781688103, rs1060499805, rs1060499810, rs1060499799, rs1060499808, rs727503483, rs1056396947, rs1060499788, rs1060499791, rs778251205, rs1060499792, rs1060499793, rs1060499789, rs1060499790, rs764153521, rs1060499800, rs1060499803, rs1060499801, rs1060499802, rs747656448, rs1060499794, rs375916159, rs1060499804, rs1060499798, rs373520843, rs1060499811, rs1060499809, rs549095193, rs141142414, rs554847663, rs571594379, rs1555543836, rs549138385, rs1064797088, rs1064797096, rs1555501320, rs1131691778, rs748302886, rs756790858, rs777911261, rs768620276, rs200090033, rs775633137, rs372855769, rs780170125, rs1555512658, rs778748895, rs1355262412, rs782166819, rs782063761, rs1199012623, rs1378679640, rs1569308571, rs756147087, rs1554874373, rs1554856042, rs753580324, rs1553353527, rs1403112959, rs1553356452, rs1554352234, rs1554352676, rs1554355011, rs201562855, rs1554360358, rs1554360678, rs763006761, rs192366176, rs1554360816, rs749013429, rs1399914687, rs1554362735, rs1390562340, rs1554871816, rs758382198, rs750880909, rs1554874879, rs1554874900, rs1264310782, rs1554877797, rs144948296, rs1248889536, rs752649606, rs530520654, rs1555341794, rs141774369, rs760461823, rs537227442, rs750078356, rs773916549, rs782292032, rs1555546699, rs1477766714, rs1555896285, rs1555342014, rs775828835, rs574007567, rs1306586204, rs1555683951, rs781546107, rs769443188, rs771720649, rs769260536, rs762551629, rs1554882652, rs371465450, rs1554357231, rs1221876133, rs1293971731, rs775428246, rs772430523, rs1157646266, rs748854592, rs748868741, rs375459945, rs397517376, rs764178233, rs771264491, rs759523751, rs763915229, rs373058706, rs1555051455, rs782539587, rs1064797090, rs866476223, rs1555547112, rs1245338270, rs952235302, rs771844359, rs750130520, rs571007078, rs768257384, rs936479651, rs1554275988, rs551348450, rs1554218566, rs1553950635, rs1409994676, rs201326023, rs918684449, rs747076316, rs1554359693, rs1045933779, rs1554354787, rs1275009555, rs121908361, rs201660407, rs1554359670, rs1205712508, rs768471577, rs1554360707, rs142656144, rs1554362815, rs1554822897, rs1168400018, rs1554822703, rs1328440878, rs756692340, rs1554833249, rs1554883705, rs143842048, rs1304228309, rs778110397, rs1187887456, rs1298596518, rs1223763703, rs758555088, rs147956944, rs1207247951, rs1554960388, rs1554960390, rs771279169, rs1283092935, rs1317951509, rs1385324903, rs921755529, rs782064437, rs775496999, rs1253943370, rs568612627, rs1555341926, rs1555341931, rs1555342007, rs1555341783, rs1555341960, rs1555341993, rs1555341949, rs769486081, rs1555341954, rs749861944, rs961865375, rs369245990, rs148737918, rs759201338, rs1553191001, rs549556142, rs1330406146, rs998045226, rs375759781, rs1567658710, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs762876554, rs757327146, rs1564555185, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs751906778, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs1271250198, rs1567411469, rs1566528901, rs1302739538, rs1558014576, rs759414956, rs149712664, rs1567649945, rs1568839335, rs747955135, rs147717802, rs755471554, rs576724182, rs1564556995, rs762226905, rs773573968, rs1233145763, rs377748152, rs1564554148, rs1485674839, rs1562505728, rs1564803868, rs1565129771, rs756606635, rs774366025, rs1567620939, rs1557977732, rs773648511, rs1567396832, rs1557659237, rs1558482554, rs1558489384, rs1559875009, rs371544695, rs1562835480, rs1284633493, rs1562835515, rs746427774, rs1241745103, rs776268964, rs1187168418, rs1564386891, rs1564583413, rs1564544199, rs1564544348, rs1564795354, rs1344509500, rs1565536400, rs1591961566, rs1565331646, rs1565455391, rs1566528185, rs763904943, rs1567618790, rs1229200252, rs1567623176, rs866595552, rs1567638693, rs1555543432, rs1240409145, rs766250454, rs1568278651, rs1569034190, rs1569040134, rs1569042693, rs1569046250, rs1564602202, rs1564759653, rs1564791773, rs1565017125, rs1555076948, rs1338605788, rs751142446, rs773461233, rs1567658906, rs1429442821, rs201613240, rs202086317, rs1298804148, rs1291519904, rs763572195, rs1567624190, rs749136456, rs1418245706, rs1422767764, rs1562336726, rs1558472243, rs1274464930, rs1558485249, rs587783645, rs763898293, rs1591158999, rs771622183, rs1339709390, rs1584292992, rs760866131, rs1589156388, rs1591019480, rs1589072933, rs1591999307, rs111033477, rs889110926, rs1322423998, rs775776282, rs1597787868, rs984967571, rs760413427, rs773861155, rs1584344549, rs1720770872, rs773729617, rs752714222, rs1591224147, rs1597747826, rs1589079163, rs1589950125, rs1446588093, rs1591287317, rs1591310948, rs1591378140, rs1591514873, rs1597752877, rs766187994, rs281875327, rs1583335192, rs1598551290, rs111033290, rs1571147567, rs1571177726, rs1187285510, rs1584331188, rs1384677442, rs550153707, rs1583366400, rs1582024232, rs1599083635, rs1264383341, rs376104832, rs1366021609, rs757070287, rs1598914701, rs1601639680, rs759792660, rs1596339533, rs1601514990, rs1421964916, rs1952428470, rs1959056736, rs1442485603, rs2033273061, rs1407136283, rs963520367, rs951333133, rs1947057220, rs751369871, rs767270134, rs764867438, rs1288328459, rs2046752611, rs760069953, rs2032939837, rs1390498839, rs769983282, rs772048719, rs2094144044, rs1943288780, rs530874854	22683713
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
Developmental regression	Developmental regression	rs1224421127
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
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131	27604308
Narcolepsy	Narcolepsy	rs104894574, rs387906655	19629137
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299, rs61750185, rs672601379, rs727504060, rs786204830, rs794727804, rs199946797, rs863224127, rs863224131, rs863224134, rs863224906, rs372054380, rs886037828, rs764791523, rs145639028, rs1057519312, rs1064794257, rs1064794656, rs1064797303, rs774265764, rs760337383, rs1553784985, rs72653786, rs1555229948, rs1555119216, rs761743852, rs1553785338, rs1020764190, rs782581701, rs1560408865, rs761460379, rs773022324, rs782740998, rs1560327427, rs80356528, rs1734162973, rs1716524583, rs1057368575

Unknown
Disease term	Disease name	Evidence	References	Source
3-Methylglutaconic Aciduria With Sensorineural Deafness, Encephalopathy And Leigh-Like Syndrome	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome			GenCC
Leigh Syndrome	Leigh syndrome			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
3 Methylglutaconic Aciduria	Associate	25642805, 27485409, 29205472, 31251474, 34751152, 39592976
Anodontia	Associate	39592976
Brain Diseases	Associate	29205472, 34751152
Breast Neoplasms	Associate	18460216, 35589867
Cholestasis	Associate	25016221
Dystonia	Associate	29205472
Focal cortical dysplasia of Taylor	Associate	40282380
GSD IV Neuromuscular Form Fatal Perinatal	Associate	25016221
Histiocytosis with joint contractures and sensorineural deafness	Associate	39592976
Hypoglycemia	Associate	29205472
Intellectual Disability	Associate	40282380
Leigh Disease	Associate	29205472, 34751152, 39592976
Liver Diseases	Associate	25016221
Liver Failure	Associate	25016221, 29205472
Liver Failure Acute	Associate	25016221
Mitochondrial Diseases	Associate	34751152
Mohr Tranebjaerg syndrome	Associate	25642805, 29205472, 34751152
Spinocerebellar Ataxias	Associate	29205472, 34751152, 39592976
Syndrome	Associate	29205472