ISCA2 (iron-sulfur cluster assembly 2)

Gene

• Entrez ID: 122961
• Gene name: Iron-sulfur cluster assembly 2
• Gene symbol: ISCA2
• Synonyms: HBLD1, ISA2, MMDS4, c14_5557
• Chromosome: 14
• Chromosome location: 14q24.3
• Summary: The protein encoded by this gene is an A-type iron-sulfur cluster (ISC) protein found in mitochondria. The encoded protein appears to be involved in the maturation of mitochondrial iron-sulfur proteins. Two transcript variants encoding different isoforms

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT687877	hsa-miR-106a-5p	HITS-CLIP	23313552
MIRT687876	hsa-miR-106b-5p	HITS-CLIP	23313552
MIRT687875	hsa-miR-17-5p	HITS-CLIP	23313552
MIRT687874	hsa-miR-20a-5p	HITS-CLIP	23313552
MIRT687873	hsa-miR-20b-5p	HITS-CLIP	23313552
MIRT687872	hsa-miR-519d-3p	HITS-CLIP	23313552
MIRT687871	hsa-miR-526b-3p	HITS-CLIP	23313552
MIRT687870	hsa-miR-93-5p	HITS-CLIP	23313552
MIRT687869	hsa-miR-302a-3p	HITS-CLIP	23313552
MIRT687868	hsa-miR-302b-3p	HITS-CLIP	23313552
MIRT687867	hsa-miR-302c-3p	HITS-CLIP	23313552
MIRT687866	hsa-miR-302d-3p	HITS-CLIP	23313552
MIRT687865	hsa-miR-302e	HITS-CLIP	23313552
MIRT687864	hsa-miR-372-3p	HITS-CLIP	23313552
MIRT687863	hsa-miR-373-3p	HITS-CLIP	23313552
MIRT687862	hsa-miR-520a-3p	HITS-CLIP	23313552
MIRT687861	hsa-miR-520b	HITS-CLIP	23313552
MIRT687860	hsa-miR-520c-3p	HITS-CLIP	23313552
MIRT687859	hsa-miR-520d-3p	HITS-CLIP	23313552
MIRT687858	hsa-miR-520e	HITS-CLIP	23313552
MIRT687857	hsa-miR-512-3p	HITS-CLIP	23313552
MIRT687856	hsa-miR-520g-3p	HITS-CLIP	23313552
MIRT687855	hsa-miR-520h	HITS-CLIP	23313552
MIRT687854	hsa-miR-186-3p	HITS-CLIP	23313552
MIRT687853	hsa-miR-150-5p	HITS-CLIP	23313552
MIRT687852	hsa-miR-619-5p	HITS-CLIP	23313552
MIRT687851	hsa-miR-6506-5p	HITS-CLIP	23313552
MIRT687850	hsa-miR-6778-3p	HITS-CLIP	23313552
MIRT687849	hsa-miR-4731-5p	HITS-CLIP	23313552
MIRT687848	hsa-miR-5589-5p	HITS-CLIP	23313552
MIRT687847	hsa-miR-1251-3p	HITS-CLIP	23313552
MIRT687846	hsa-miR-4757-5p	HITS-CLIP	23313552
MIRT687845	hsa-miR-6744-3p	HITS-CLIP	23313552
MIRT687844	hsa-miR-4713-3p	HITS-CLIP	23313552
MIRT687843	hsa-miR-638	HITS-CLIP	23313552
MIRT687842	hsa-miR-513a-5p	HITS-CLIP	23313552
MIRT687841	hsa-miR-6878-3p	HITS-CLIP	23313552
MIRT687840	hsa-miR-450b-3p	HITS-CLIP	23313552
MIRT687839	hsa-miR-769-3p	HITS-CLIP	23313552
MIRT669837	hsa-miR-4797-5p	HITS-CLIP	23824327
MIRT669836	hsa-miR-5007-5p	HITS-CLIP	23824327
MIRT669834	hsa-miR-4639-3p	HITS-CLIP	23824327
MIRT669833	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT669832	hsa-miR-4769-3p	HITS-CLIP	23824327
MIRT669831	hsa-miR-6817-5p	HITS-CLIP	23824327
MIRT669830	hsa-miR-4524a-3p	HITS-CLIP	23824327
MIRT669829	hsa-miR-6794-3p	HITS-CLIP	23824327
MIRT669828	hsa-miR-4727-5p	HITS-CLIP	23824327
MIRT669827	hsa-miR-3672	HITS-CLIP	23824327
MIRT669826	hsa-miR-6864-3p	HITS-CLIP	23824327
MIRT669825	hsa-miR-4715-3p	HITS-CLIP	23824327
MIRT669824	hsa-miR-8055	HITS-CLIP	23824327
MIRT672733	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT669837	hsa-miR-4797-5p	HITS-CLIP	23824327
MIRT669836	hsa-miR-5007-5p	HITS-CLIP	23824327
MIRT669835	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT669834	hsa-miR-4639-3p	HITS-CLIP	23824327
MIRT669833	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT669832	hsa-miR-4769-3p	HITS-CLIP	23824327
MIRT669831	hsa-miR-6817-5p	HITS-CLIP	23824327
MIRT669830	hsa-miR-4524a-3p	HITS-CLIP	23824327
MIRT669829	hsa-miR-6794-3p	HITS-CLIP	23824327
MIRT669828	hsa-miR-4727-5p	HITS-CLIP	23824327
MIRT669827	hsa-miR-3672	HITS-CLIP	23824327
MIRT669826	hsa-miR-6864-3p	HITS-CLIP	23824327
MIRT669825	hsa-miR-4715-3p	HITS-CLIP	23824327
MIRT669824	hsa-miR-8055	HITS-CLIP	23824327
MIRT672733	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT669837	hsa-miR-4797-5p	HITS-CLIP	23824327
MIRT669836	hsa-miR-5007-5p	HITS-CLIP	23824327
MIRT669835	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT669834	hsa-miR-4639-3p	HITS-CLIP	23824327
MIRT669833	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT669832	hsa-miR-4769-3p	HITS-CLIP	23824327
MIRT669831	hsa-miR-6817-5p	HITS-CLIP	23824327
MIRT669830	hsa-miR-4524a-3p	HITS-CLIP	23824327
MIRT669829	hsa-miR-6794-3p	HITS-CLIP	23824327
MIRT669828	hsa-miR-4727-5p	HITS-CLIP	23824327
MIRT669827	hsa-miR-3672	HITS-CLIP	23824327
MIRT669826	hsa-miR-6864-3p	HITS-CLIP	23824327
MIRT669825	hsa-miR-4715-3p	HITS-CLIP	23824327
MIRT669824	hsa-miR-8055	HITS-CLIP	23824327
MIRT522940	hsa-miR-4645-5p	PAR-CLIP	23446348
MIRT522939	hsa-miR-4673	PAR-CLIP	23446348
MIRT522938	hsa-miR-214-5p	PAR-CLIP	23446348
MIRT522937	hsa-miR-6811-3p	PAR-CLIP	23446348
MIRT522936	hsa-miR-3622b-5p	PAR-CLIP	23446348
MIRT522935	hsa-miR-1271-3p	PAR-CLIP	23446348
MIRT522934	hsa-miR-550a-3-5p	PAR-CLIP	23446348
MIRT522933	hsa-miR-550a-5p	PAR-CLIP	23446348
MIRT522932	hsa-miR-6514-3p	PAR-CLIP	23446348
MIRT522931	hsa-miR-2054	PAR-CLIP	23446348
MIRT687877	hsa-miR-106a-5p	HITS-CLIP	23313552
MIRT687876	hsa-miR-106b-5p	HITS-CLIP	23313552
MIRT687875	hsa-miR-17-5p	HITS-CLIP	23313552
MIRT687874	hsa-miR-20a-5p	HITS-CLIP	23313552
MIRT687873	hsa-miR-20b-5p	HITS-CLIP	23313552
MIRT687872	hsa-miR-519d-3p	HITS-CLIP	23313552
MIRT687871	hsa-miR-526b-3p	HITS-CLIP	23313552
MIRT687870	hsa-miR-93-5p	HITS-CLIP	23313552
MIRT687869	hsa-miR-302a-3p	HITS-CLIP	23313552
MIRT687868	hsa-miR-302b-3p	HITS-CLIP	23313552
MIRT687867	hsa-miR-302c-3p	HITS-CLIP	23313552
MIRT687866	hsa-miR-302d-3p	HITS-CLIP	23313552
MIRT687865	hsa-miR-302e	HITS-CLIP	23313552
MIRT687864	hsa-miR-372-3p	HITS-CLIP	23313552
MIRT687863	hsa-miR-373-3p	HITS-CLIP	23313552
MIRT687862	hsa-miR-520a-3p	HITS-CLIP	23313552
MIRT687861	hsa-miR-520b	HITS-CLIP	23313552
MIRT687860	hsa-miR-520c-3p	HITS-CLIP	23313552
MIRT687859	hsa-miR-520d-3p	HITS-CLIP	23313552
MIRT687858	hsa-miR-520e	HITS-CLIP	23313552
MIRT687857	hsa-miR-512-3p	HITS-CLIP	23313552
MIRT687856	hsa-miR-520g-3p	HITS-CLIP	23313552
MIRT687855	hsa-miR-520h	HITS-CLIP	23313552
MIRT687854	hsa-miR-186-3p	HITS-CLIP	23313552
MIRT687853	hsa-miR-150-5p	HITS-CLIP	23313552
MIRT687852	hsa-miR-619-5p	HITS-CLIP	23313552
MIRT687851	hsa-miR-6506-5p	HITS-CLIP	23313552
MIRT687850	hsa-miR-6778-3p	HITS-CLIP	23313552
MIRT687849	hsa-miR-4731-5p	HITS-CLIP	23313552
MIRT687848	hsa-miR-5589-5p	HITS-CLIP	23313552
MIRT687847	hsa-miR-1251-3p	HITS-CLIP	23313552
MIRT687846	hsa-miR-4757-5p	HITS-CLIP	23313552
MIRT687845	hsa-miR-6744-3p	HITS-CLIP	23313552
MIRT687844	hsa-miR-4713-3p	HITS-CLIP	23313552
MIRT687843	hsa-miR-638	HITS-CLIP	23313552
MIRT687842	hsa-miR-513a-5p	HITS-CLIP	23313552
MIRT687841	hsa-miR-6878-3p	HITS-CLIP	23313552
MIRT687840	hsa-miR-450b-3p	HITS-CLIP	23313552
MIRT687839	hsa-miR-769-3p	HITS-CLIP	23313552
MIRT669837	hsa-miR-4797-5p	HITS-CLIP	23824327
MIRT669836	hsa-miR-5007-5p	HITS-CLIP	23824327
MIRT669834	hsa-miR-4639-3p	HITS-CLIP	23824327
MIRT669833	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT669832	hsa-miR-4769-3p	HITS-CLIP	23824327
MIRT669831	hsa-miR-6817-5p	HITS-CLIP	23824327
MIRT669830	hsa-miR-4524a-3p	HITS-CLIP	23824327
MIRT669829	hsa-miR-6794-3p	HITS-CLIP	23824327
MIRT669828	hsa-miR-4727-5p	HITS-CLIP	23824327
MIRT669827	hsa-miR-3672	HITS-CLIP	23824327
MIRT669826	hsa-miR-6864-3p	HITS-CLIP	23824327
MIRT669825	hsa-miR-4715-3p	HITS-CLIP	23824327
MIRT669824	hsa-miR-8055	HITS-CLIP	23824327
MIRT672733	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT669837	hsa-miR-4797-5p	HITS-CLIP	23824327
MIRT669836	hsa-miR-5007-5p	HITS-CLIP	23824327
MIRT669835	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT669834	hsa-miR-4639-3p	HITS-CLIP	23824327
MIRT669833	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT669832	hsa-miR-4769-3p	HITS-CLIP	23824327
MIRT669831	hsa-miR-6817-5p	HITS-CLIP	23824327
MIRT669830	hsa-miR-4524a-3p	HITS-CLIP	23824327
MIRT669829	hsa-miR-6794-3p	HITS-CLIP	23824327
MIRT669828	hsa-miR-4727-5p	HITS-CLIP	23824327
MIRT669827	hsa-miR-3672	HITS-CLIP	23824327
MIRT669826	hsa-miR-6864-3p	HITS-CLIP	23824327
MIRT669825	hsa-miR-4715-3p	HITS-CLIP	23824327
MIRT669824	hsa-miR-8055	HITS-CLIP	23824327
MIRT672733	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT669837	hsa-miR-4797-5p	HITS-CLIP	23824327
MIRT669836	hsa-miR-5007-5p	HITS-CLIP	23824327
MIRT669835	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT669834	hsa-miR-4639-3p	HITS-CLIP	23824327
MIRT669833	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT669832	hsa-miR-4769-3p	HITS-CLIP	23824327
MIRT669831	hsa-miR-6817-5p	HITS-CLIP	23824327
MIRT669830	hsa-miR-4524a-3p	HITS-CLIP	23824327
MIRT669829	hsa-miR-6794-3p	HITS-CLIP	23824327
MIRT669828	hsa-miR-4727-5p	HITS-CLIP	23824327
MIRT669827	hsa-miR-3672	HITS-CLIP	23824327
MIRT669826	hsa-miR-6864-3p	HITS-CLIP	23824327
MIRT669825	hsa-miR-4715-3p	HITS-CLIP	23824327
MIRT669824	hsa-miR-8055	HITS-CLIP	23824327
MIRT522940	hsa-miR-4645-5p	PAR-CLIP	23446348
MIRT522939	hsa-miR-4673	PAR-CLIP	23446348
MIRT522938	hsa-miR-214-5p	PAR-CLIP	23446348
MIRT522937	hsa-miR-6811-3p	PAR-CLIP	23446348
MIRT522936	hsa-miR-3622b-5p	PAR-CLIP	23446348
MIRT522935	hsa-miR-1271-3p	PAR-CLIP	23446348
MIRT522934	hsa-miR-550a-3-5p	PAR-CLIP	23446348
MIRT522933	hsa-miR-550a-5p	PAR-CLIP	23446348
MIRT522932	hsa-miR-6514-3p	PAR-CLIP	23446348
MIRT522931	hsa-miR-2054	PAR-CLIP	23446348
MIRT1072489	hsa-let-7a	CLIP-seq
MIRT1072490	hsa-let-7b	CLIP-seq
MIRT1072491	hsa-let-7c	CLIP-seq
MIRT1072492	hsa-let-7d	CLIP-seq
MIRT1072493	hsa-let-7e	CLIP-seq
MIRT1072494	hsa-let-7f	CLIP-seq
MIRT1072495	hsa-let-7g	CLIP-seq
MIRT1072496	hsa-let-7i	CLIP-seq
MIRT1072497	hsa-miR-1269	CLIP-seq
MIRT1072498	hsa-miR-1269b	CLIP-seq
MIRT1072499	hsa-miR-1288	CLIP-seq
MIRT1072500	hsa-miR-1303	CLIP-seq
MIRT1072501	hsa-miR-1305	CLIP-seq
MIRT1072502	hsa-miR-139-5p	CLIP-seq
MIRT1072503	hsa-miR-141	CLIP-seq
MIRT1072504	hsa-miR-194	CLIP-seq
MIRT1072505	hsa-miR-200a	CLIP-seq
MIRT1072506	hsa-miR-202	CLIP-seq
MIRT1072507	hsa-miR-24	CLIP-seq
MIRT1072508	hsa-miR-2467-5p	CLIP-seq
MIRT1072509	hsa-miR-3126-5p	CLIP-seq
MIRT1072510	hsa-miR-3148	CLIP-seq
MIRT1072511	hsa-miR-3163	CLIP-seq
MIRT1072512	hsa-miR-3200-5p	CLIP-seq
MIRT1072513	hsa-miR-3612	CLIP-seq
MIRT1072514	hsa-miR-3688-5p	CLIP-seq
MIRT1072515	hsa-miR-3690	CLIP-seq
MIRT1072516	hsa-miR-378	CLIP-seq
MIRT1072517	hsa-miR-378b	CLIP-seq
MIRT1072518	hsa-miR-378c	CLIP-seq
MIRT1072519	hsa-miR-378d	CLIP-seq
MIRT1072520	hsa-miR-378e	CLIP-seq
MIRT1072521	hsa-miR-378f	CLIP-seq
MIRT1072522	hsa-miR-378h	CLIP-seq
MIRT1072523	hsa-miR-378i	CLIP-seq
MIRT1072524	hsa-miR-422a	CLIP-seq
MIRT1072525	hsa-miR-4254	CLIP-seq
MIRT1072526	hsa-miR-4282	CLIP-seq
MIRT1072527	hsa-miR-4443	CLIP-seq
MIRT1072528	hsa-miR-4458	CLIP-seq
MIRT1072529	hsa-miR-4461	CLIP-seq
MIRT1072530	hsa-miR-4470	CLIP-seq
MIRT1072531	hsa-miR-4481	CLIP-seq
MIRT1072532	hsa-miR-4500	CLIP-seq
MIRT1072533	hsa-miR-4515	CLIP-seq
MIRT1072534	hsa-miR-4649-3p	CLIP-seq
MIRT1072535	hsa-miR-4668-5p	CLIP-seq
MIRT1072536	hsa-miR-4734	CLIP-seq
MIRT1072537	hsa-miR-4740-5p	CLIP-seq
MIRT1072538	hsa-miR-4745-5p	CLIP-seq
MIRT1072539	hsa-miR-4758-5p	CLIP-seq
MIRT1072540	hsa-miR-4777-5p	CLIP-seq
MIRT1072541	hsa-miR-4802-5p	CLIP-seq
MIRT1072542	hsa-miR-4803	CLIP-seq
MIRT1072543	hsa-miR-483-3p	CLIP-seq
MIRT1072544	hsa-miR-516b	CLIP-seq
MIRT1072545	hsa-miR-518d-5p	CLIP-seq
MIRT1072546	hsa-miR-519b-5p	CLIP-seq
MIRT1072547	hsa-miR-519c-5p	CLIP-seq
MIRT1072548	hsa-miR-520c-5p	CLIP-seq
MIRT1072549	hsa-miR-526a	CLIP-seq
MIRT1072550	hsa-miR-590-3p	CLIP-seq
MIRT1072551	hsa-miR-650	CLIP-seq
MIRT1072552	hsa-miR-98	CLIP-seq
MIRT1072489	hsa-let-7a	CLIP-seq
MIRT1072490	hsa-let-7b	CLIP-seq
MIRT1072491	hsa-let-7c	CLIP-seq
MIRT1072492	hsa-let-7d	CLIP-seq
MIRT1072493	hsa-let-7e	CLIP-seq
MIRT1072494	hsa-let-7f	CLIP-seq
MIRT1072495	hsa-let-7g	CLIP-seq
MIRT1072496	hsa-let-7i	CLIP-seq
MIRT1072504	hsa-miR-194	CLIP-seq
MIRT1072506	hsa-miR-202	CLIP-seq
MIRT1072512	hsa-miR-3200-5p	CLIP-seq
MIRT1072528	hsa-miR-4458	CLIP-seq
MIRT1072532	hsa-miR-4500	CLIP-seq
MIRT1072534	hsa-miR-4649-3p	CLIP-seq
MIRT1072552	hsa-miR-98	CLIP-seq
MIRT2017879	hsa-miR-1207-5p	CLIP-seq
MIRT2017880	hsa-miR-3128	CLIP-seq
MIRT2017881	hsa-miR-3616-5p	CLIP-seq
MIRT2017882	hsa-miR-3647-5p	CLIP-seq
MIRT2017883	hsa-miR-4668-3p	CLIP-seq
MIRT2017884	hsa-miR-4720-5p	CLIP-seq
MIRT2017885	hsa-miR-4736	CLIP-seq
MIRT2017886	hsa-miR-4763-3p	CLIP-seq
MIRT2017887	hsa-miR-4795-5p	CLIP-seq
MIRT2017888	hsa-miR-4799-3p	CLIP-seq
MIRT2017889	hsa-miR-573	CLIP-seq
MIRT2017890	hsa-miR-646	CLIP-seq
MIRT1072489	hsa-let-7a	CLIP-seq
MIRT1072490	hsa-let-7b	CLIP-seq
MIRT1072491	hsa-let-7c	CLIP-seq
MIRT1072492	hsa-let-7d	CLIP-seq
MIRT1072493	hsa-let-7e	CLIP-seq
MIRT1072494	hsa-let-7f	CLIP-seq
MIRT1072495	hsa-let-7g	CLIP-seq
MIRT1072496	hsa-let-7i	CLIP-seq
MIRT1072501	hsa-miR-1305	CLIP-seq
MIRT1072504	hsa-miR-194	CLIP-seq
MIRT1072506	hsa-miR-202	CLIP-seq
MIRT1072507	hsa-miR-24	CLIP-seq
MIRT1072508	hsa-miR-2467-5p	CLIP-seq
MIRT1072509	hsa-miR-3126-5p	CLIP-seq
MIRT1072512	hsa-miR-3200-5p	CLIP-seq
MIRT1072513	hsa-miR-3612	CLIP-seq
MIRT1072526	hsa-miR-4282	CLIP-seq
MIRT1072527	hsa-miR-4443	CLIP-seq
MIRT1072528	hsa-miR-4458	CLIP-seq
MIRT1072529	hsa-miR-4461	CLIP-seq
MIRT1072532	hsa-miR-4500	CLIP-seq
MIRT1072534	hsa-miR-4649-3p	CLIP-seq
MIRT1072544	hsa-miR-516b	CLIP-seq
MIRT1072551	hsa-miR-650	CLIP-seq
MIRT1072552	hsa-miR-98	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005198	Function	Structural molecule activity	IEA
GO:0005506	Function	Iron ion binding	IBA	21873635
GO:0005515	Function	Protein binding	IPI	25416956, 31831856, 32296183, 32814053
GO:0005739	Component	Mitochondrion	IBA	21873635
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0016226	Process	Iron-sulfur cluster assembly	IBA	21873635
GO:0044281	Process	Small molecule metabolic process	TAS
GO:0051537	Function	2 iron, 2 sulfur cluster binding	IBA	21873635
GO:0051539	Function	4 iron, 4 sulfur cluster binding	IBA	21873635
GO:0106035	Process	Protein maturation by [4Fe-4S] cluster transfer	IBA	21873635

Other IDs

• MIM: 615317
• HGNC: 19857
• e!Ensembl: ENSG00000165898

Protein

• UniProt ID: Q86U28
• Protein name: Iron-sulfur cluster assembly 2 homolog, mitochondrial (HESB-like domain-containing protein 1)
• Protein function: Involved in the maturation of mitochondrial 4Fe-4S proteins functioning late in the iron-sulfur cluster assembly pathway. May be involved in the binding of an intermediate of Fe/S cluster assembly.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01521	Fe-S_biosyn	49 → 148	Iron-sulphur cluster biosynthesis	Family

• Sequence:

  MAAAWGSSLTAATQRAVTPWPRGRLLTASLGPQARREASSSSPEAGEGQIRLTDSCVQRL
  LEITEGSEFLRLQVEGGGCSGFQYKFSLDTVINPDDRVFEQGGARVVVDSDSLAFVKGAQ
  VDFSQELIRSSFQVLNNPQAQQGCSCGSSFSIKL

• Sequence length: 154

Pathways

Reactome:

Mitochondrial iron-sulfur cluster biogenesis

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
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
Leukodystrophy	Leukodystrophy	rs74315475, rs72466451, rs267608671, rs181087667, rs267608682, rs267608674, rs587778271, rs148932047, rs886037931, rs368905417, rs768180196, rs1558211070, rs1558209947, rs1558210191, rs1280845604, rs1382083552, rs1576101665, rs1576080546, rs1576074651, rs1367958450, rs932183417
Multiple mitochondrial dysfunctions syndrome	Multiple Mitochondrial Dysfunctions Syndrome, MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4, Multiple mitochondrial dysfunctions syndrome type 4	rs374514431, rs869320737, rs587777016, rs730882246, rs876657407, rs371546359, rs143492730, rs769222264, rs886039730, rs756085990, rs1354126704, rs145596167, rs200188353, rs1436866272, rs1461200360, rs73095427, rs1553264669, rs1553264725, rs769063859, rs765926471, rs1053773776, rs1261081427, rs781627051, rs1553264773, rs765132163, rs1587823007, rs1464338870, rs550855238, rs1209052568	25558065, 25539947, 29297947, 29122497, 25539947, 25558065, 29359243
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
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 name	Disease term	dbSNP ID	References
Spastic quadriplegia	Spastic Quadriplegia