NUBPL (NUBP iron-sulfur cluster assembly factor, mitochondrial)

Gene

• Entrez ID: 80224
• Gene name: NUBP iron-sulfur cluster assembly factor, mitochondrial
• Gene symbol: NUBPL
• Synonyms (NCBI Gene): C14orf127, IND1, MC1DN21, huInd1
• Disease Acronyms (UniProt): MC1DN21
• Chromosome: 14
• Chromosome location: 14q12
• Summary: This gene encodes a member of the Mrp/NBP35 ATP-binding proteins family. The encoded protein is required for the assembly of the respiratory chain NADH dehydrogenase (complex I), an oligomeric enzymatic complex located in the inner mitochondrial membrane.

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs61752327	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant, coding sequence variant, genic downstream transcript variant, 5 prime UTR variant, missense variant
rs118161496	T>C	Conflicting-interpretations-of-pathogenicity, pathogenic, likely-pathogenic	Intron variant, genic downstream transcript variant
rs201430951	T>C	Uncertain-significance, pathogenic, likely-pathogenic	Synonymous variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, non coding transcript variant, missense variant
rs397515440	G>T	Likely-pathogenic, pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant, 5 prime UTR variant
rs552722349	A>C,G	Pathogenic	Intron variant, missense variant, genic downstream transcript variant, synonymous variant, coding sequence variant
rs751631278	G>A	Pathogenic	Splice donor variant, genic downstream transcript variant
rs767543623	C>G,T	Pathogenic	Genic downstream transcript variant, non coding transcript variant, missense variant, synonymous variant, coding sequence variant
rs879255565	->CCTTGTGCTG	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant, inframe indel, genic downstream transcript variant
rs1431275151	->T	Pathogenic	Non coding transcript variant, frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555338209	C>T	Likely-pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant, intron variant, genic downstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT030602	hsa-miR-24-3p	Microarray	19748357
MIRT030975	hsa-miR-21-5p	Microarray	18591254
MIRT675478	hsa-miR-4781-3p	HITS-CLIP	23824327
MIRT675477	hsa-miR-3155a	HITS-CLIP	23824327
MIRT675476	hsa-miR-3155b	HITS-CLIP	23824327
MIRT675475	hsa-miR-484	HITS-CLIP	23824327
MIRT675474	hsa-miR-4716-5p	HITS-CLIP	23824327
MIRT675473	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT675472	hsa-miR-3663-5p	HITS-CLIP	23824327
MIRT675471	hsa-miR-4635	HITS-CLIP	23824327
MIRT675470	hsa-miR-4680-5p	HITS-CLIP	23824327
MIRT675469	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT675468	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT675467	hsa-miR-6131	HITS-CLIP	23824327
MIRT675466	hsa-miR-6801-5p	HITS-CLIP	23824327
MIRT675465	hsa-miR-197-3p	HITS-CLIP	23824327
MIRT675464	hsa-miR-433-3p	HITS-CLIP	23824327
MIRT675463	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT675462	hsa-miR-7158-3p	HITS-CLIP	23824327
MIRT675461	hsa-miR-203b-3p	HITS-CLIP	23824327
MIRT675460	hsa-miR-640	HITS-CLIP	23824327
MIRT675459	hsa-miR-5587-5p	HITS-CLIP	23824327
MIRT641400	hsa-miR-6514-5p	HITS-CLIP	23824327
MIRT641399	hsa-miR-106b-3p	HITS-CLIP	23824327
MIRT641398	hsa-miR-136-5p	HITS-CLIP	23824327
MIRT641397	hsa-miR-143-3p	HITS-CLIP	23824327
MIRT641395	hsa-miR-4770	HITS-CLIP	23824327
MIRT641396	hsa-miR-6088	HITS-CLIP	23824327
MIRT641394	hsa-miR-4708-5p	HITS-CLIP	23824327
MIRT641393	hsa-miR-1273f	HITS-CLIP	23824327
MIRT641392	hsa-miR-4534	HITS-CLIP	23824327
MIRT641391	hsa-miR-8082	HITS-CLIP	23824327
MIRT641390	hsa-miR-1289	HITS-CLIP	23824327
MIRT641389	hsa-miR-4294	HITS-CLIP	23824327
MIRT641388	hsa-miR-3198	HITS-CLIP	23824327
MIRT641387	hsa-miR-4309	HITS-CLIP	23824327
MIRT675478	hsa-miR-4781-3p	HITS-CLIP	23824327
MIRT675477	hsa-miR-3155a	HITS-CLIP	23824327
MIRT675476	hsa-miR-3155b	HITS-CLIP	23824327
MIRT675475	hsa-miR-484	HITS-CLIP	23824327
MIRT675474	hsa-miR-4716-5p	HITS-CLIP	23824327
MIRT675473	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT675472	hsa-miR-3663-5p	HITS-CLIP	23824327
MIRT675471	hsa-miR-4635	HITS-CLIP	23824327
MIRT675470	hsa-miR-4680-5p	HITS-CLIP	23824327
MIRT675469	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT675468	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT675467	hsa-miR-6131	HITS-CLIP	23824327
MIRT675466	hsa-miR-6801-5p	HITS-CLIP	23824327
MIRT675465	hsa-miR-197-3p	HITS-CLIP	23824327
MIRT675464	hsa-miR-433-3p	HITS-CLIP	23824327
MIRT675463	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT675462	hsa-miR-7158-3p	HITS-CLIP	23824327
MIRT675461	hsa-miR-203b-3p	HITS-CLIP	23824327
MIRT675460	hsa-miR-640	HITS-CLIP	23824327
MIRT675459	hsa-miR-5587-5p	HITS-CLIP	23824327
MIRT641400	hsa-miR-6514-5p	HITS-CLIP	23824327
MIRT641399	hsa-miR-106b-3p	HITS-CLIP	23824327
MIRT641398	hsa-miR-136-5p	HITS-CLIP	23824327
MIRT641397	hsa-miR-143-3p	HITS-CLIP	23824327
MIRT641395	hsa-miR-4770	HITS-CLIP	23824327
MIRT641396	hsa-miR-6088	HITS-CLIP	23824327
MIRT641394	hsa-miR-4708-5p	HITS-CLIP	23824327
MIRT641393	hsa-miR-1273f	HITS-CLIP	23824327
MIRT641392	hsa-miR-4534	HITS-CLIP	23824327
MIRT641391	hsa-miR-8082	HITS-CLIP	23824327
MIRT641390	hsa-miR-1289	HITS-CLIP	23824327
MIRT641389	hsa-miR-4294	HITS-CLIP	23824327
MIRT641388	hsa-miR-3198	HITS-CLIP	23824327
MIRT641387	hsa-miR-4309	HITS-CLIP	23824327
MIRT1196640	hsa-miR-1224-3p	CLIP-seq
MIRT1196641	hsa-miR-197	CLIP-seq
MIRT1196642	hsa-miR-3149	CLIP-seq
MIRT1196643	hsa-miR-3155	CLIP-seq
MIRT1196644	hsa-miR-3545-3p	CLIP-seq
MIRT1196645	hsa-miR-3690	CLIP-seq
MIRT1196646	hsa-miR-411	CLIP-seq
MIRT1196647	hsa-miR-4254	CLIP-seq
MIRT1196648	hsa-miR-4275	CLIP-seq
MIRT1196649	hsa-miR-433	CLIP-seq
MIRT1196650	hsa-miR-4499	CLIP-seq
MIRT1196651	hsa-miR-4735-5p	CLIP-seq
MIRT1196652	hsa-miR-4775	CLIP-seq
MIRT1196653	hsa-miR-483-3p	CLIP-seq
MIRT1196654	hsa-miR-483-5p	CLIP-seq
MIRT1196655	hsa-miR-5096	CLIP-seq
MIRT1196656	hsa-miR-577	CLIP-seq
MIRT1196657	hsa-miR-590-3p	CLIP-seq
MIRT1196658	hsa-miR-122	CLIP-seq
MIRT1196659	hsa-miR-1254	CLIP-seq
MIRT1196660	hsa-miR-1301	CLIP-seq
MIRT1196641	hsa-miR-197	CLIP-seq
MIRT1196661	hsa-miR-1976	CLIP-seq
MIRT1196662	hsa-miR-200b	CLIP-seq
MIRT1196663	hsa-miR-200c	CLIP-seq
MIRT1196664	hsa-miR-203	CLIP-seq
MIRT1196665	hsa-miR-21	CLIP-seq
MIRT1196666	hsa-miR-3116	CLIP-seq
MIRT1196667	hsa-miR-3135b	CLIP-seq
MIRT1196668	hsa-miR-3137	CLIP-seq
MIRT1196642	hsa-miR-3149	CLIP-seq
MIRT1196643	hsa-miR-3155	CLIP-seq
MIRT1196669	hsa-miR-3652	CLIP-seq
MIRT1196670	hsa-miR-3671	CLIP-seq
MIRT1196671	hsa-miR-3686	CLIP-seq
MIRT1196645	hsa-miR-3690	CLIP-seq
MIRT1196672	hsa-miR-369-3p	CLIP-seq
MIRT1196673	hsa-miR-374c	CLIP-seq
MIRT1196674	hsa-miR-410	CLIP-seq
MIRT1196646	hsa-miR-411	CLIP-seq
MIRT1196647	hsa-miR-4254	CLIP-seq
MIRT1196675	hsa-miR-4279	CLIP-seq
MIRT1196676	hsa-miR-429	CLIP-seq
MIRT1196677	hsa-miR-4430	CLIP-seq
MIRT1196678	hsa-miR-4438	CLIP-seq
MIRT1196679	hsa-miR-4456	CLIP-seq
MIRT1196650	hsa-miR-4499	CLIP-seq
MIRT1196680	hsa-miR-4517	CLIP-seq
MIRT1196681	hsa-miR-451b	CLIP-seq
MIRT1196682	hsa-miR-4652-3p	CLIP-seq
MIRT1196683	hsa-miR-4660	CLIP-seq
MIRT1196684	hsa-miR-4686	CLIP-seq
MIRT1196685	hsa-miR-4694-3p	CLIP-seq
MIRT1196686	hsa-miR-4715-3p	CLIP-seq
MIRT1196687	hsa-miR-4722-3p	CLIP-seq
MIRT1196688	hsa-miR-4729	CLIP-seq
MIRT1196651	hsa-miR-4735-5p	CLIP-seq
MIRT1196689	hsa-miR-4740-3p	CLIP-seq
MIRT1196690	hsa-miR-4747-5p	CLIP-seq
MIRT1196691	hsa-miR-4756-3p	CLIP-seq
MIRT1196692	hsa-miR-4766-3p	CLIP-seq
MIRT1196652	hsa-miR-4775	CLIP-seq
MIRT1196693	hsa-miR-4795-3p	CLIP-seq
MIRT1196694	hsa-miR-4797-5p	CLIP-seq
MIRT1196653	hsa-miR-483-3p	CLIP-seq
MIRT1196654	hsa-miR-483-5p	CLIP-seq
MIRT1196695	hsa-miR-5047	CLIP-seq
MIRT1196696	hsa-miR-5095	CLIP-seq
MIRT1196655	hsa-miR-5096	CLIP-seq
MIRT1196697	hsa-miR-522	CLIP-seq
MIRT1196698	hsa-miR-541	CLIP-seq
MIRT1196699	hsa-miR-548a-3p	CLIP-seq
MIRT1196700	hsa-miR-548e	CLIP-seq
MIRT1196701	hsa-miR-548f	CLIP-seq
MIRT1196702	hsa-miR-584	CLIP-seq
MIRT1196657	hsa-miR-590-3p	CLIP-seq
MIRT1196703	hsa-miR-590-5p	CLIP-seq
MIRT1196704	hsa-miR-654-5p	CLIP-seq
MIRT1196705	hsa-miR-655	CLIP-seq
MIRT1196706	hsa-miR-661	CLIP-seq
MIRT1196707	hsa-miR-668	CLIP-seq
MIRT1196641	hsa-miR-197	CLIP-seq
MIRT1196643	hsa-miR-3155	CLIP-seq
MIRT1196646	hsa-miR-411	CLIP-seq
MIRT1196654	hsa-miR-483-5p	CLIP-seq
MIRT1196655	hsa-miR-5096	CLIP-seq
MIRT2285430	hsa-miR-607	CLIP-seq
MIRT2455536	hsa-miR-2681	CLIP-seq
MIRT1196642	hsa-miR-3149	CLIP-seq
MIRT1196646	hsa-miR-411	CLIP-seq
MIRT1196678	hsa-miR-4438	CLIP-seq
MIRT1196686	hsa-miR-4715-3p	CLIP-seq
MIRT1196651	hsa-miR-4735-5p	CLIP-seq
MIRT1196652	hsa-miR-4775	CLIP-seq
MIRT1196654	hsa-miR-483-5p	CLIP-seq
MIRT1196696	hsa-miR-5095	CLIP-seq
MIRT1196657	hsa-miR-590-3p	CLIP-seq
MIRT2583545	hsa-miR-101	CLIP-seq
MIRT2583546	hsa-miR-1229	CLIP-seq
MIRT2583547	hsa-miR-1245b-3p	CLIP-seq
MIRT1196659	hsa-miR-1254	CLIP-seq
MIRT2583548	hsa-miR-1264	CLIP-seq
MIRT2583549	hsa-miR-1279	CLIP-seq
MIRT1196660	hsa-miR-1301	CLIP-seq
MIRT2583550	hsa-miR-150	CLIP-seq
MIRT1196641	hsa-miR-197	CLIP-seq
MIRT2583551	hsa-miR-2053	CLIP-seq
MIRT1196665	hsa-miR-21	CLIP-seq
MIRT2583552	hsa-miR-2113	CLIP-seq
MIRT2583553	hsa-miR-24	CLIP-seq
MIRT2583554	hsa-miR-2467-3p	CLIP-seq
MIRT1196666	hsa-miR-3116	CLIP-seq
MIRT2583555	hsa-miR-3124-3p	CLIP-seq
MIRT2583556	hsa-miR-3129-3p	CLIP-seq
MIRT1196642	hsa-miR-3149	CLIP-seq
MIRT2583557	hsa-miR-3185	CLIP-seq
MIRT2583558	hsa-miR-340	CLIP-seq
MIRT2583559	hsa-miR-342-3p	CLIP-seq
MIRT2583560	hsa-miR-3611	CLIP-seq
MIRT2583561	hsa-miR-361-5p	CLIP-seq
MIRT2583562	hsa-miR-3617	CLIP-seq
MIRT2583563	hsa-miR-3653	CLIP-seq
MIRT2583564	hsa-miR-3658	CLIP-seq
MIRT1196670	hsa-miR-3671	CLIP-seq
MIRT2583565	hsa-miR-3675-3p	CLIP-seq
MIRT2583566	hsa-miR-3689a-5p	CLIP-seq
MIRT2583567	hsa-miR-3689b	CLIP-seq
MIRT2583568	hsa-miR-3689e	CLIP-seq
MIRT2583569	hsa-miR-3689f	CLIP-seq
MIRT2583570	hsa-miR-374a	CLIP-seq
MIRT2583571	hsa-miR-374b	CLIP-seq
MIRT2583572	hsa-miR-377	CLIP-seq
MIRT2583573	hsa-miR-3913-3p	CLIP-seq
MIRT2583574	hsa-miR-3973	CLIP-seq
MIRT1196646	hsa-miR-411	CLIP-seq
MIRT2583575	hsa-miR-4257	CLIP-seq
MIRT1196648	hsa-miR-4275	CLIP-seq
MIRT2583576	hsa-miR-4284	CLIP-seq
MIRT1196679	hsa-miR-4456	CLIP-seq
MIRT2583577	hsa-miR-4457	CLIP-seq
MIRT2583578	hsa-miR-4477a	CLIP-seq
MIRT2583579	hsa-miR-4511	CLIP-seq
MIRT1196680	hsa-miR-4517	CLIP-seq
MIRT1196681	hsa-miR-451b	CLIP-seq
MIRT2583580	hsa-miR-4522	CLIP-seq
MIRT2583581	hsa-miR-455-3p	CLIP-seq
MIRT2583582	hsa-miR-4640-3p	CLIP-seq
MIRT2583583	hsa-miR-4645-3p	CLIP-seq
MIRT2583584	hsa-miR-4659a-5p	CLIP-seq
MIRT2583585	hsa-miR-4659b-5p	CLIP-seq
MIRT1196683	hsa-miR-4660	CLIP-seq
MIRT2583586	hsa-miR-4661-3p	CLIP-seq
MIRT2583587	hsa-miR-4667-3p	CLIP-seq
MIRT2583588	hsa-miR-4667-5p	CLIP-seq
MIRT2583589	hsa-miR-4679	CLIP-seq
MIRT2583590	hsa-miR-4691-3p	CLIP-seq
MIRT1196685	hsa-miR-4694-3p	CLIP-seq
MIRT2583591	hsa-miR-4700-5p	CLIP-seq
MIRT2583592	hsa-miR-4713-5p	CLIP-seq
MIRT1196686	hsa-miR-4715-3p	CLIP-seq
MIRT2583593	hsa-miR-4719	CLIP-seq
MIRT1196651	hsa-miR-4735-5p	CLIP-seq
MIRT1196690	hsa-miR-4747-5p	CLIP-seq
MIRT2583594	hsa-miR-4753-3p	CLIP-seq
MIRT2583595	hsa-miR-4760-3p	CLIP-seq
MIRT1196692	hsa-miR-4766-3p	CLIP-seq
MIRT2583596	hsa-miR-4768-5p	CLIP-seq
MIRT2583597	hsa-miR-4769-3p	CLIP-seq
MIRT2583598	hsa-miR-4773	CLIP-seq
MIRT1196652	hsa-miR-4775	CLIP-seq
MIRT1196693	hsa-miR-4795-3p	CLIP-seq
MIRT1196654	hsa-miR-483-5p	CLIP-seq
MIRT2583599	hsa-miR-489	CLIP-seq
MIRT2583600	hsa-miR-499-3p	CLIP-seq
MIRT2583601	hsa-miR-499a-3p	CLIP-seq
MIRT1196695	hsa-miR-5047	CLIP-seq
MIRT1196655	hsa-miR-5096	CLIP-seq
MIRT2583602	hsa-miR-513b	CLIP-seq
MIRT2583603	hsa-miR-520g	CLIP-seq
MIRT2583604	hsa-miR-520h	CLIP-seq
MIRT2583605	hsa-miR-532-3p	CLIP-seq
MIRT1196698	hsa-miR-541	CLIP-seq
MIRT2583606	hsa-miR-548b-3p	CLIP-seq
MIRT2583607	hsa-miR-550b	CLIP-seq
MIRT2583608	hsa-miR-561	CLIP-seq
MIRT1196656	hsa-miR-577	CLIP-seq
MIRT2583609	hsa-miR-587	CLIP-seq
MIRT1196657	hsa-miR-590-3p	CLIP-seq
MIRT1196703	hsa-miR-590-5p	CLIP-seq
MIRT2583610	hsa-miR-637	CLIP-seq
MIRT2583611	hsa-miR-641	CLIP-seq
MIRT2583612	hsa-miR-648	CLIP-seq
MIRT1196704	hsa-miR-654-5p	CLIP-seq
MIRT1196706	hsa-miR-661	CLIP-seq
MIRT2583613	hsa-miR-664	CLIP-seq
MIRT2583614	hsa-miR-7	CLIP-seq
MIRT2583615	hsa-miR-758	CLIP-seq
MIRT2583546	hsa-miR-1229	CLIP-seq
MIRT2583547	hsa-miR-1245b-3p	CLIP-seq
MIRT2583548	hsa-miR-1264	CLIP-seq
MIRT2686670	hsa-miR-1305	CLIP-seq
MIRT2583550	hsa-miR-150	CLIP-seq
MIRT1196665	hsa-miR-21	CLIP-seq
MIRT2583552	hsa-miR-2113	CLIP-seq
MIRT2583556	hsa-miR-3129-3p	CLIP-seq
MIRT1196642	hsa-miR-3149	CLIP-seq
MIRT2583557	hsa-miR-3185	CLIP-seq
MIRT2583558	hsa-miR-340	CLIP-seq
MIRT2583559	hsa-miR-342-3p	CLIP-seq
MIRT2583560	hsa-miR-3611	CLIP-seq
MIRT2583562	hsa-miR-3617	CLIP-seq
MIRT1196670	hsa-miR-3671	CLIP-seq
MIRT2583565	hsa-miR-3675-3p	CLIP-seq
MIRT2583566	hsa-miR-3689a-5p	CLIP-seq
MIRT2583567	hsa-miR-3689b	CLIP-seq
MIRT2583568	hsa-miR-3689e	CLIP-seq
MIRT2583569	hsa-miR-3689f	CLIP-seq
MIRT2583573	hsa-miR-3913-3p	CLIP-seq
MIRT2583574	hsa-miR-3973	CLIP-seq
MIRT1196646	hsa-miR-411	CLIP-seq
MIRT1196648	hsa-miR-4275	CLIP-seq
MIRT2686671	hsa-miR-4307	CLIP-seq
MIRT2583577	hsa-miR-4457	CLIP-seq
MIRT1196680	hsa-miR-4517	CLIP-seq
MIRT1196681	hsa-miR-451b	CLIP-seq
MIRT2583580	hsa-miR-4522	CLIP-seq
MIRT2583582	hsa-miR-4640-3p	CLIP-seq
MIRT2583586	hsa-miR-4661-3p	CLIP-seq
MIRT2583587	hsa-miR-4667-3p	CLIP-seq
MIRT2583588	hsa-miR-4667-5p	CLIP-seq
MIRT2583589	hsa-miR-4679	CLIP-seq
MIRT2583590	hsa-miR-4691-3p	CLIP-seq
MIRT2686672	hsa-miR-4698	CLIP-seq
MIRT2583591	hsa-miR-4700-5p	CLIP-seq
MIRT2583592	hsa-miR-4713-5p	CLIP-seq
MIRT1196686	hsa-miR-4715-3p	CLIP-seq
MIRT1196651	hsa-miR-4735-5p	CLIP-seq
MIRT2583594	hsa-miR-4753-3p	CLIP-seq
MIRT2583595	hsa-miR-4760-3p	CLIP-seq
MIRT1196692	hsa-miR-4766-3p	CLIP-seq
MIRT2583596	hsa-miR-4768-5p	CLIP-seq
MIRT2583598	hsa-miR-4773	CLIP-seq
MIRT1196652	hsa-miR-4775	CLIP-seq
MIRT1196693	hsa-miR-4795-3p	CLIP-seq
MIRT1196654	hsa-miR-483-5p	CLIP-seq
MIRT2583599	hsa-miR-489	CLIP-seq
MIRT2583600	hsa-miR-499-3p	CLIP-seq
MIRT2583601	hsa-miR-499a-3p	CLIP-seq
MIRT2583602	hsa-miR-513b	CLIP-seq
MIRT2583603	hsa-miR-520g	CLIP-seq
MIRT2583604	hsa-miR-520h	CLIP-seq
MIRT2583605	hsa-miR-532-3p	CLIP-seq
MIRT2583608	hsa-miR-561	CLIP-seq
MIRT1196656	hsa-miR-577	CLIP-seq
MIRT2583609	hsa-miR-587	CLIP-seq
MIRT1196657	hsa-miR-590-3p	CLIP-seq
MIRT1196703	hsa-miR-590-5p	CLIP-seq
MIRT2285430	hsa-miR-607	CLIP-seq
MIRT2583610	hsa-miR-637	CLIP-seq
MIRT2583611	hsa-miR-641	CLIP-seq
MIRT2583612	hsa-miR-648	CLIP-seq
MIRT2583613	hsa-miR-664	CLIP-seq
MIRT2583615	hsa-miR-758	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005524	Function	ATP binding	IEA
GO:0005739	Component	Mitochondrion	IBA	21873635
GO:0005739	Component	Mitochondrion	IDA	19752196
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005886	Component	Plasma membrane	IDA
GO:0016226	Process	Iron-sulfur cluster assembly	IBA	21873635
GO:0032981	Process	Mitochondrial respiratory chain complex I assembly	IBA	21873635
GO:0032981	Process	Mitochondrial respiratory chain complex I assembly	IMP	19752196
GO:0032981	Process	Mitochondrial respiratory chain complex I assembly	TAS
GO:0046872	Function	Metal ion binding	IEA
GO:0051539	Function	4 iron, 4 sulfur cluster binding	IBA	21873635
GO:0051539	Function	4 iron, 4 sulfur cluster binding	IDA	19752196
GO:0070584	Process	Mitochondrion morphogenesis	IMP	19752196

Other IDs

• MIM: 613621
• HGNC: 20278
• e!Ensembl: ENSG00000151413

Protein

• UniProt ID: Q8TB37
• Protein name: Iron-sulfur cluster transfer protein NUBPL (IND1 homolog) (Nucleotide-binding protein-like) (huInd1)
• Protein function: Iron-sulfur cluster transfer protein involved in the assembly of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) (PubMed:19752196). May deliver one or more Fe-S clusters to complex I subunits (PubMed:19752196). {ECO:0
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF10609	ParA	65 → 311	NUBPL iron-transfer P-loop NTPase	Family

• Tissue specificity: TISSUE SPECIFICITY: Highest expression in liver and kidney. expressed at significant levels in small intestine and brain (at protein level). {ECO:0000269|PubMed:19752196}.
• Sequence:

  MGIWQRLLLFGGVSLRAGGGATAPLGGSRAMVCGRQLSGAGSETLKQRRTQIMSRGLPKQ
  KPIEGVKQVIVVASGKGGVGKSTTAVNLALALAANDSSKAIGLLDVDVYGPSVPKMMNLK
  GNPELSQSNLMRPLLNYGIACMSMGFLVEESEPVVWRGLMVMSAIEKLLRQVDWGQLDYL
  VVDMPPGTGDVQLSVSQNIPITGAVIVSTPQDIALMDAHKGAEMFRRVHVPVLGLVQNMS
  VFQCPKCKHKTHIFGADGARKLAQTLGLEVLGDIPLHLNIREASDTGQPIVFSQPESDEA
  KAYLRIAVEVVRRLPSPSE

• Sequence length: 319

Pathways

Reactome:

Complex I biogenesis

Associated diseases

Causal
Disease term	Disease name	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
Diabetes mellitus	Diabetes Mellitus	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs80356663, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs371977235, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261
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
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
Leukodystrophy	Leukodystrophy	rs74315475, rs72466451, rs267608671, rs181087667, rs267608682, rs267608674, rs587778271, rs148932047, rs886037931, rs368905417, rs768180196, rs1558211070, rs1558209947, rs1558210191, rs1280845604, rs1382083552, rs1576101665, rs1576080546, rs1576074651, rs1367958450, rs932183417
Leukoencephalopathy	Leukoencephalopathy	rs34757931
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
Mitochondrial complex deficiency	MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21	rs267606829, rs267606830, rs587776513, rs121918134, rs121918135, rs121918136, rs137853192, rs137853193, rs183973249, rs137853184, rs118203929, rs267606689, rs11544803, rs63751061, rs137852863, rs1554076324, rs104894554, rs1561102614, rs267606913, rs28939714, rs104894270, rs121908571, rs121908572, rs121908573, rs28937590, rs121908575, rs121908576, rs121908577, rs121908578, rs121908579, rs121908580, rs144885874, rs587776629, rs104894630, rs121434428, rs121434429, rs1445075330, rs121908985, rs104893898, rs104893899, rs28939679, rs121912639, rs1168752295, rs104894560, rs104894555, rs104894556, rs104894557, rs387906383, rs104894705, rs121434479, rs1568985256, rs9809219, rs137852767, rs1061517, rs137852768, rs28384199, rs267606890, rs267606888, rs104894884, rs104894885, rs121913659, rs768050261, rs121913660, rs121913661, rs397515383, rs199422224, rs199592341, rs387906872, rs387906873, rs387906929, rs387906956, rs368949613, rs115532916, rs377022708, rs1586636643, rs387907070, rs387907087, rs747166010, rs387907094, rs587776904, rs387907139, rs387907199, rs397514617, rs397514618, rs587776949, rs374661051, rs879255565, rs751631278, rs552722349, rs397515447, rs372691318, rs587777004, rs776388520, rs587777041, rs587777042, rs398124308, rs794726691, rs794726692, rs587777220, rs752513525, rs587777410, rs587777433, rs142441643, rs587777784, rs587777785, rs587777787, rs606231426, rs786205436, rs765093638, rs796052056, rs201430951, rs370009373, rs377025174, rs747956412, rs757982865, rs768720209, rs757486575, rs750831299, rs863224123, rs576780935, rs863224844, rs753711253, rs149753643, rs150283105, rs869025602, rs869025603, rs869025604, rs869025605, rs531254130, rs761389904, rs876658477, rs886037835, rs141542003, rs746165168, rs878854628, rs142609245, rs573006534, rs886037857, rs150613320, rs766454175, rs752670374, rs768768823, rs749196764, rs1057516255, rs1057519073, rs1057519414, rs1057519415, rs757043077, rs768273248, rs1057519084, rs1057519085, rs1057519086, rs199683937, rs776838028, rs367956888, rs1057521059, rs199754807, rs777501387, rs150966634, rs770131276, rs1555834773, rs1085307492, rs1131691065, rs781525096, rs370411488, rs1135402749, rs151279101, rs1555338209, rs1555695342, rs1555530551, rs1555703272, rs749110767, rs1348957889, rs867410737, rs1569463838, rs758833609, rs750830935, rs1023075742, rs1554599411, rs1555745989, rs376281345, rs772294726, rs1554076306, rs1554076309, rs536758576, rs765915512, rs1555066709, rs567437692, rs1239013578, rs1554843251, rs1554843434, rs781099275, rs763006208, rs747359752, rs3210083, rs1568344751, rs1242465339, rs1568346416, rs1485032272, rs750971390, rs767543623, rs1597176845, rs138275059, rs1171276645, rs1318084629, rs1598367619, rs1598368033, rs745332456, rs778516878, rs1603223730, rs146599698, rs1321888585, rs1579936916, rs1411237396, rs1591111808, rs1592704794, rs1600305570, rs1411381518, rs1426201422, rs759254294, rs1906247824, rs770749420, rs766026673, rs1475753965, rs1970827483	26633545, 20818383, 22644603, 27604308, 23553477
Mitochondrial myopathy	Mitochondrial Myopathies	rs121434454
Myopathy	Myopathy	rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166, rs193922856, rs281865489, rs397514675, rs397514676, rs397514677, rs367543058, rs118192117, rs193922837, rs118192129, rs118192143, rs118192153, rs118192133, rs118192156, rs118192149, rs118192148, rs118192183, rs118192147, rs118192123, rs118192127, rs118192142, rs118192144, rs118192178, rs118192151, rs118192150, rs118192184, rs118192154, rs118192134, rs118192155, rs193922893, rs118192132, rs118192146, rs193922867, rs193922884, rs587777528, rs527236030, rs587777672, rs587777673, rs587777674, rs587777675, rs587783343, rs2754158, rs786204796, rs748277951, rs797046047, rs797046064, rs797046060, rs797045479, rs797045931, rs797045932, rs797045934, rs797045935, rs797045477, rs797045478, rs1057518851, rs1057518855, rs1057518773, rs1057518866, rs1555322610, rs1555806119, rs761483896, rs144071404, rs1198364572, rs1568614042, rs978984063, rs1568604308, rs1332371891, rs1601842249, rs777176261, rs1249621033, rs1278804520, rs1568613962, rs1568510406, rs1597512576, rs193922887, rs371455345, rs1603452200, rs1599634685, rs1575065895, rs1575201712, rs139715157, rs1974129338
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896

Unknown
Disease term	Disease name	Evidence	References	Source
Heart failure	Heart failure		31113495	ClinVar
Ptosis	Blepharoptosis, Ptosis			ClinVar
Mitochondrial Complex Deficiency	mitochondrial complex 1 deficiency, nuclear type 21, mitochondrial complex I deficiency			GenCC
Leigh Syndrome	Leigh syndrome			GenCC
Otitis media	Otitis media			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Cerebellar Ataxia	Associate	30897263
Cerebellar Diseases	Associate	30897263
Colorectal Neoplasms	Stimulate	28346728
Dystonia	Associate	30897263
Dystonic Disorders	Associate	30897263
Leukoencephalopathies	Associate	23553477, 31917109
Lymphatic Metastasis	Stimulate	28346728
Mitochondrial complex I deficiency	Associate	20818383, 23553477, 23828044
Mitochondrial Diseases	Associate	23553477, 23828044
Mitochondrial encephalopathy	Associate	23828044
Neoplasm Metastasis	Associate	28346728
Neoplasms	Associate	28346728
Otitis Media	Associate	36167494
Striatonigral degeneration infantile	Associate	30897263
Thalamic Diseases	Associate	31917109