Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4719
Gene name	NADH:ubiquinone oxidoreductase core subunit S1
Gene symbol	NDUFS1
Synonyms (NCBI Gene)	CI-75KdCI-75kMC1DN5PRO1304
Chromosome	2
Chromosome location	2q33.3
Summary	The protein encoded by this gene belongs to the complex I 75 kDa subunit family. Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase acti

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SNP ID	Visualize variation	Clinical significance	Consequence
rs78042826	G>A,C	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Coding sequence variant, missense variant
rs149271416	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs151279101	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs199422224	T>C	Pathogenic	Coding sequence variant, missense variant
rs199422225	G>A	Pathogenic	Coding sequence variant, missense variant
rs199422226	G>A,C	Pathogenic	Coding sequence variant, synonymous variant, missense variant
rs201034481	C>T	Likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs370009373	T>G	Pathogenic	Splice acceptor variant
rs370411488	A>G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs372691318	G>A,C	Pathogenic	Stop gained, coding sequence variant, missense variant
rs387907199	T>C	Pathogenic	Coding sequence variant, missense variant
rs397515383	GAT>-	Pathogenic	Coding sequence variant, inframe deletion
rs397515447	C>T	Pathogenic	Coding sequence variant, missense variant
rs747249702	A>C,G	Likely-pathogenic	Missense variant, coding sequence variant
rs750971390	G>A	Pathogenic	Intron variant, coding sequence variant, stop gained
rs767122069	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs776114731	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs786205666	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs863224097	T>A	Likely-pathogenic	Coding sequence variant, missense variant
rs863224099	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs863224100	GTT>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs863224103	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1131692032	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1321888585	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1485032272	T>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs1553503175	->CG	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553503177	GCTTATAG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553506655	TA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1559047521	TTTAA>-	Likely-pathogenic	Intron variant
rs1575944638	GA>-	Likely-pathogenic	Frameshift variant, coding sequence variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT046974	hsa-miR-221-3p	CLASH	23622248
MIRT043105	hsa-miR-324-5p	CLASH	23622248
MIRT040441	hsa-miR-615-3p	CLASH	23622248
MIRT545646	hsa-miR-8485	HITS-CLIP	21572407
MIRT545645	hsa-miR-329-3p	HITS-CLIP	21572407
MIRT545644	hsa-miR-362-3p	HITS-CLIP	21572407
MIRT545643	hsa-miR-603	HITS-CLIP	21572407
MIRT545642	hsa-miR-5580-3p	HITS-CLIP	21572407
MIRT545641	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT545640	hsa-miR-3941	HITS-CLIP	21572407
MIRT545639	hsa-miR-4789-5p	HITS-CLIP	21572407
MIRT545646	hsa-miR-8485	HITS-CLIP	23824327
MIRT545645	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT545644	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT545643	hsa-miR-603	HITS-CLIP	23824327
MIRT545641	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT545640	hsa-miR-3941	HITS-CLIP	23824327
MIRT545639	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT612202	hsa-miR-5701	HITS-CLIP	23824327
MIRT612201	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT612200	hsa-let-7a-2-3p	HITS-CLIP	23824327
MIRT612199	hsa-let-7g-3p	HITS-CLIP	23824327
MIRT612198	hsa-miR-493-5p	HITS-CLIP	23824327
MIRT545646	hsa-miR-8485	HITS-CLIP	23824327
MIRT545645	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT545644	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT545643	hsa-miR-603	HITS-CLIP	23824327
MIRT545641	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT545640	hsa-miR-3941	HITS-CLIP	23824327
MIRT545639	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT612202	hsa-miR-5701	HITS-CLIP	23824327
MIRT612201	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT612200	hsa-let-7a-2-3p	HITS-CLIP	23824327
MIRT612199	hsa-let-7g-3p	HITS-CLIP	23824327
MIRT612198	hsa-miR-493-5p	HITS-CLIP	23824327
MIRT545646	hsa-miR-8485	HITS-CLIP	23824327
MIRT545645	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT545644	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT545643	hsa-miR-603	HITS-CLIP	23824327
MIRT545641	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT545640	hsa-miR-3941	HITS-CLIP	23824327
MIRT545639	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT612202	hsa-miR-5701	HITS-CLIP	23824327
MIRT612201	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT612200	hsa-let-7a-2-3p	HITS-CLIP	23824327
MIRT612199	hsa-let-7g-3p	HITS-CLIP	23824327
MIRT612198	hsa-miR-493-5p	HITS-CLIP	23824327
MIRT545646	hsa-miR-8485	HITS-CLIP	23824327
MIRT545645	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT545644	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT545643	hsa-miR-603	HITS-CLIP	23824327
MIRT545641	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT545640	hsa-miR-3941	HITS-CLIP	23824327
MIRT545639	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT612202	hsa-miR-5701	HITS-CLIP	23824327
MIRT612201	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT612200	hsa-let-7a-2-3p	HITS-CLIP	23824327
MIRT612199	hsa-let-7g-3p	HITS-CLIP	23824327
MIRT612198	hsa-miR-493-5p	HITS-CLIP	23824327
MIRT545646	hsa-miR-8485	HITS-CLIP	23824327
MIRT545645	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT545644	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT545643	hsa-miR-603	HITS-CLIP	23824327
MIRT545641	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT545640	hsa-miR-3941	HITS-CLIP	23824327
MIRT545639	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT612202	hsa-miR-5701	HITS-CLIP	23824327
MIRT616120	hsa-miR-3606-3p	HITS-CLIP	23824327
MIRT616119	hsa-miR-513a-3p	HITS-CLIP	23824327
MIRT616118	hsa-miR-513c-3p	HITS-CLIP	23824327
MIRT616115	hsa-miR-552-5p	HITS-CLIP	23824327
MIRT545646	hsa-miR-8485	HITS-CLIP	23824327
MIRT545645	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT545644	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT545643	hsa-miR-603	HITS-CLIP	23824327
MIRT545641	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT545640	hsa-miR-3941	HITS-CLIP	23824327
MIRT545639	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT612202	hsa-miR-5701	HITS-CLIP	23824327
MIRT612201	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT612200	hsa-let-7a-2-3p	HITS-CLIP	23824327
MIRT612199	hsa-let-7g-3p	HITS-CLIP	23824327
MIRT612198	hsa-miR-493-5p	HITS-CLIP	23824327
MIRT616120	hsa-miR-3606-3p	HITS-CLIP	23824327
MIRT616119	hsa-miR-513a-3p	HITS-CLIP	23824327
MIRT616118	hsa-miR-513c-3p	HITS-CLIP	23824327
MIRT616115	hsa-miR-552-5p	HITS-CLIP	23824327
MIRT545646	hsa-miR-8485	HITS-CLIP	23824327
MIRT545645	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT545644	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT545643	hsa-miR-603	HITS-CLIP	23824327
MIRT545641	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT545640	hsa-miR-3941	HITS-CLIP	23824327
MIRT545639	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT612202	hsa-miR-5701	HITS-CLIP	23824327
MIRT612201	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT612200	hsa-let-7a-2-3p	HITS-CLIP	23824327
MIRT612199	hsa-let-7g-3p	HITS-CLIP	23824327
MIRT612198	hsa-miR-493-5p	HITS-CLIP	23824327
MIRT545646	hsa-miR-8485	HITS-CLIP	23824327
MIRT545645	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT545644	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT545643	hsa-miR-603	HITS-CLIP	23824327
MIRT545641	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT545640	hsa-miR-3941	HITS-CLIP	23824327
MIRT545639	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT612202	hsa-miR-5701	HITS-CLIP	23824327
MIRT616120	hsa-miR-3606-3p	HITS-CLIP	23824327
MIRT616119	hsa-miR-513a-3p	HITS-CLIP	23824327
MIRT616118	hsa-miR-513c-3p	HITS-CLIP	23824327
MIRT616117	hsa-miR-548ao-5p	HITS-CLIP	23824327
MIRT616116	hsa-miR-548ax	HITS-CLIP	23824327
MIRT616115	hsa-miR-552-5p	HITS-CLIP	23824327
MIRT545646	hsa-miR-8485	HITS-CLIP	23824327
MIRT545645	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT545644	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT545643	hsa-miR-603	HITS-CLIP	23824327
MIRT545641	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT545640	hsa-miR-3941	HITS-CLIP	23824327
MIRT545639	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT612202	hsa-miR-5701	HITS-CLIP	23824327
MIRT612201	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT612200	hsa-let-7a-2-3p	HITS-CLIP	23824327
MIRT612199	hsa-let-7g-3p	HITS-CLIP	23824327
MIRT612198	hsa-miR-493-5p	HITS-CLIP	23824327
MIRT545646	hsa-miR-8485	HITS-CLIP	23824327
MIRT545645	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT545644	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT545643	hsa-miR-603	HITS-CLIP	23824327
MIRT545641	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT545640	hsa-miR-3941	HITS-CLIP	23824327
MIRT545639	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT612202	hsa-miR-5701	HITS-CLIP	23824327
MIRT612201	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT612200	hsa-let-7a-2-3p	HITS-CLIP	23824327
MIRT612199	hsa-let-7g-3p	HITS-CLIP	23824327
MIRT612198	hsa-miR-493-5p	HITS-CLIP	23824327
MIRT552225	hsa-miR-4428	PAR-CLIP	21572407
MIRT552224	hsa-miR-3653-5p	PAR-CLIP	21572407
MIRT552223	hsa-miR-1976	PAR-CLIP	21572407
MIRT236271	hsa-miR-3682-5p	PAR-CLIP	21572407
MIRT552222	hsa-miR-4279	PAR-CLIP	21572407
MIRT545646	hsa-miR-8485	PAR-CLIP	21572407
MIRT545645	hsa-miR-329-3p	PAR-CLIP	21572407
MIRT545644	hsa-miR-362-3p	PAR-CLIP	21572407
MIRT545643	hsa-miR-603	PAR-CLIP	21572407
MIRT545642	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT545641	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT545640	hsa-miR-3941	PAR-CLIP	21572407
MIRT545639	hsa-miR-4789-5p	PAR-CLIP	21572407
MIRT545646	hsa-miR-8485	PAR-CLIP	21572407
MIRT545645	hsa-miR-329-3p	PAR-CLIP	21572407
MIRT545644	hsa-miR-362-3p	PAR-CLIP	21572407
MIRT545643	hsa-miR-603	PAR-CLIP	21572407
MIRT545642	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT545641	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT545640	hsa-miR-3941	PAR-CLIP	21572407
MIRT545639	hsa-miR-4789-5p	PAR-CLIP	21572407
MIRT462199	hsa-miR-1252-3p	PAR-CLIP	23592263
MIRT462198	hsa-miR-3688-3p	PAR-CLIP	23592263
MIRT462197	hsa-miR-4330	PAR-CLIP	23592263
MIRT462196	hsa-miR-4670-3p	PAR-CLIP	23592263
MIRT462195	hsa-miR-3928-3p	PAR-CLIP	23592263
MIRT462194	hsa-miR-5093	PAR-CLIP	23592263
MIRT462193	hsa-miR-3915	PAR-CLIP	23592263
MIRT440126	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440126	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT733103	hsa-miR-3130-5p	Immunohistochemistry (IHC)Luciferase reporter assayqRT-PCRWestern blotting	33978320
MIRT733103	hsa-miR-3130-5p	Immunohistochemistry (IHC)Luciferase reporter assayqRT-PCRWestern blotting	33978320
MIRT733103	hsa-miR-3130-5p	Immunohistochemistry (IHC)Luciferase reporter assayqRT-PCRWestern blotting	33978320
MIRT545646	hsa-miR-8485	HITS-CLIP	21572407
MIRT545645	hsa-miR-329-3p	HITS-CLIP	21572407
MIRT545644	hsa-miR-362-3p	HITS-CLIP	21572407
MIRT545643	hsa-miR-603	HITS-CLIP	21572407
MIRT545642	hsa-miR-5580-3p	HITS-CLIP	21572407
MIRT545641	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT545640	hsa-miR-3941	HITS-CLIP	21572407
MIRT545639	hsa-miR-4789-5p	HITS-CLIP	21572407
MIRT545646	hsa-miR-8485	HITS-CLIP	23824327
MIRT545645	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT545644	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT545643	hsa-miR-603	HITS-CLIP	23824327
MIRT545641	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT545640	hsa-miR-3941	HITS-CLIP	23824327
MIRT545639	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT612202	hsa-miR-5701	HITS-CLIP	23824327
MIRT612201	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT612200	hsa-let-7a-2-3p	HITS-CLIP	23824327
MIRT612199	hsa-let-7g-3p	HITS-CLIP	23824327
MIRT612198	hsa-miR-493-5p	HITS-CLIP	23824327
MIRT545646	hsa-miR-8485	HITS-CLIP	23824327
MIRT545645	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT545644	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT545643	hsa-miR-603	HITS-CLIP	23824327
MIRT545641	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT545640	hsa-miR-3941	HITS-CLIP	23824327
MIRT545639	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT612202	hsa-miR-5701	HITS-CLIP	23824327
MIRT612201	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT612200	hsa-let-7a-2-3p	HITS-CLIP	23824327
MIRT612199	hsa-let-7g-3p	HITS-CLIP	23824327
MIRT612198	hsa-miR-493-5p	HITS-CLIP	23824327
MIRT545646	hsa-miR-8485	HITS-CLIP	23824327
MIRT545645	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT545644	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT545643	hsa-miR-603	HITS-CLIP	23824327
MIRT545641	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT545640	hsa-miR-3941	HITS-CLIP	23824327
MIRT545639	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT612202	hsa-miR-5701	HITS-CLIP	23824327
MIRT612201	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT612200	hsa-let-7a-2-3p	HITS-CLIP	23824327
MIRT612199	hsa-let-7g-3p	HITS-CLIP	23824327
MIRT612198	hsa-miR-493-5p	HITS-CLIP	23824327
MIRT545646	hsa-miR-8485	HITS-CLIP	23824327
MIRT545645	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT545644	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT545643	hsa-miR-603	HITS-CLIP	23824327
MIRT545641	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT545640	hsa-miR-3941	HITS-CLIP	23824327
MIRT545639	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT612202	hsa-miR-5701	HITS-CLIP	23824327
MIRT612201	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT612200	hsa-let-7a-2-3p	HITS-CLIP	23824327
MIRT612199	hsa-let-7g-3p	HITS-CLIP	23824327
MIRT612198	hsa-miR-493-5p	HITS-CLIP	23824327
MIRT545646	hsa-miR-8485	HITS-CLIP	23824327
MIRT545645	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT545644	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT545643	hsa-miR-603	HITS-CLIP	23824327
MIRT545641	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT545640	hsa-miR-3941	HITS-CLIP	23824327
MIRT545639	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT612202	hsa-miR-5701	HITS-CLIP	23824327
MIRT616120	hsa-miR-3606-3p	HITS-CLIP	23824327
MIRT616119	hsa-miR-513a-3p	HITS-CLIP	23824327
MIRT616118	hsa-miR-513c-3p	HITS-CLIP	23824327
MIRT616115	hsa-miR-552-5p	HITS-CLIP	23824327
MIRT545646	hsa-miR-8485	HITS-CLIP	23824327
MIRT545645	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT545644	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT545643	hsa-miR-603	HITS-CLIP	23824327
MIRT545641	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT545640	hsa-miR-3941	HITS-CLIP	23824327
MIRT545639	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT612202	hsa-miR-5701	HITS-CLIP	23824327
MIRT612201	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT612200	hsa-let-7a-2-3p	HITS-CLIP	23824327
MIRT612199	hsa-let-7g-3p	HITS-CLIP	23824327
MIRT612198	hsa-miR-493-5p	HITS-CLIP	23824327
MIRT616120	hsa-miR-3606-3p	HITS-CLIP	23824327
MIRT616119	hsa-miR-513a-3p	HITS-CLIP	23824327
MIRT616118	hsa-miR-513c-3p	HITS-CLIP	23824327
MIRT616115	hsa-miR-552-5p	HITS-CLIP	23824327
MIRT545646	hsa-miR-8485	HITS-CLIP	23824327
MIRT545645	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT545644	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT545643	hsa-miR-603	HITS-CLIP	23824327
MIRT545641	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT545640	hsa-miR-3941	HITS-CLIP	23824327
MIRT545639	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT612202	hsa-miR-5701	HITS-CLIP	23824327
MIRT612201	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT612200	hsa-let-7a-2-3p	HITS-CLIP	23824327
MIRT612199	hsa-let-7g-3p	HITS-CLIP	23824327
MIRT612198	hsa-miR-493-5p	HITS-CLIP	23824327
MIRT545646	hsa-miR-8485	HITS-CLIP	23824327
MIRT545645	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT545644	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT545643	hsa-miR-603	HITS-CLIP	23824327
MIRT545641	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT545640	hsa-miR-3941	HITS-CLIP	23824327
MIRT545639	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT612202	hsa-miR-5701	HITS-CLIP	23824327
MIRT616120	hsa-miR-3606-3p	HITS-CLIP	23824327
MIRT616119	hsa-miR-513a-3p	HITS-CLIP	23824327
MIRT616118	hsa-miR-513c-3p	HITS-CLIP	23824327
MIRT616117	hsa-miR-548ao-5p	HITS-CLIP	23824327
MIRT616116	hsa-miR-548ax	HITS-CLIP	23824327
MIRT616115	hsa-miR-552-5p	HITS-CLIP	23824327
MIRT545646	hsa-miR-8485	HITS-CLIP	23824327
MIRT545645	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT545644	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT545643	hsa-miR-603	HITS-CLIP	23824327
MIRT545641	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT545640	hsa-miR-3941	HITS-CLIP	23824327
MIRT545639	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT612202	hsa-miR-5701	HITS-CLIP	23824327
MIRT612201	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT612200	hsa-let-7a-2-3p	HITS-CLIP	23824327
MIRT612199	hsa-let-7g-3p	HITS-CLIP	23824327
MIRT612198	hsa-miR-493-5p	HITS-CLIP	23824327
MIRT545646	hsa-miR-8485	HITS-CLIP	23824327
MIRT545645	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT545644	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT545643	hsa-miR-603	HITS-CLIP	23824327
MIRT545641	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT545640	hsa-miR-3941	HITS-CLIP	23824327
MIRT545639	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT612202	hsa-miR-5701	HITS-CLIP	23824327
MIRT612201	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT612200	hsa-let-7a-2-3p	HITS-CLIP	23824327
MIRT612199	hsa-let-7g-3p	HITS-CLIP	23824327
MIRT612198	hsa-miR-493-5p	HITS-CLIP	23824327
MIRT552225	hsa-miR-4428	PAR-CLIP	21572407
MIRT552224	hsa-miR-3653-5p	PAR-CLIP	21572407
MIRT552223	hsa-miR-1976	PAR-CLIP	21572407
MIRT236271	hsa-miR-3682-5p	PAR-CLIP	21572407
MIRT552222	hsa-miR-4279	PAR-CLIP	21572407
MIRT545646	hsa-miR-8485	PAR-CLIP	21572407
MIRT545645	hsa-miR-329-3p	PAR-CLIP	21572407
MIRT545644	hsa-miR-362-3p	PAR-CLIP	21572407
MIRT545643	hsa-miR-603	PAR-CLIP	21572407
MIRT545642	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT545641	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT545640	hsa-miR-3941	PAR-CLIP	21572407
MIRT545639	hsa-miR-4789-5p	PAR-CLIP	21572407
MIRT545646	hsa-miR-8485	PAR-CLIP	21572407
MIRT545645	hsa-miR-329-3p	PAR-CLIP	21572407
MIRT545644	hsa-miR-362-3p	PAR-CLIP	21572407
MIRT545643	hsa-miR-603	PAR-CLIP	21572407
MIRT545642	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT545641	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT545640	hsa-miR-3941	PAR-CLIP	21572407
MIRT545639	hsa-miR-4789-5p	PAR-CLIP	21572407
MIRT462199	hsa-miR-1252-3p	PAR-CLIP	23592263
MIRT462198	hsa-miR-3688-3p	PAR-CLIP	23592263
MIRT462197	hsa-miR-4330	PAR-CLIP	23592263
MIRT462196	hsa-miR-4670-3p	PAR-CLIP	23592263
MIRT462195	hsa-miR-3928-3p	PAR-CLIP	23592263
MIRT462194	hsa-miR-5093	PAR-CLIP	23592263
MIRT462193	hsa-miR-3915	PAR-CLIP	23592263
MIRT1179154	hsa-miR-1305	CLIP-seq
MIRT1179155	hsa-miR-329	CLIP-seq
MIRT1179156	hsa-miR-4307	CLIP-seq
MIRT1179157	hsa-miR-466	CLIP-seq
MIRT1179158	hsa-miR-4666-5p	CLIP-seq
MIRT1179159	hsa-miR-4672	CLIP-seq
MIRT1179160	hsa-miR-607	CLIP-seq
MIRT1179161	hsa-miR-139-3p	CLIP-seq
MIRT1179162	hsa-miR-147	CLIP-seq
MIRT1179163	hsa-miR-219-1-3p	CLIP-seq
MIRT1179164	hsa-miR-3164	CLIP-seq
MIRT1179165	hsa-miR-3653	CLIP-seq
MIRT1179166	hsa-miR-3658	CLIP-seq
MIRT1179167	hsa-miR-3911	CLIP-seq
MIRT1179168	hsa-miR-4438	CLIP-seq
MIRT1179169	hsa-miR-4511	CLIP-seq
MIRT1179170	hsa-miR-4517	CLIP-seq
MIRT1179171	hsa-miR-4528	CLIP-seq
MIRT1179172	hsa-miR-4684-3p	CLIP-seq
MIRT1179173	hsa-miR-4781-3p	CLIP-seq
MIRT1179174	hsa-miR-548b-3p	CLIP-seq
MIRT1179175	hsa-miR-571	CLIP-seq
MIRT1179176	hsa-miR-644	CLIP-seq
MIRT1179154	hsa-miR-1305	CLIP-seq
MIRT1179177	hsa-miR-153	CLIP-seq
MIRT1179178	hsa-miR-18a	CLIP-seq
MIRT1179179	hsa-miR-18b	CLIP-seq
MIRT1179180	hsa-miR-2052	CLIP-seq
MIRT1179181	hsa-miR-320a	CLIP-seq
MIRT1179182	hsa-miR-320b	CLIP-seq
MIRT1179183	hsa-miR-320c	CLIP-seq
MIRT1179184	hsa-miR-320d	CLIP-seq
MIRT1179185	hsa-miR-320e	CLIP-seq
MIRT1179186	hsa-miR-323b-5p	CLIP-seq
MIRT1179155	hsa-miR-329	CLIP-seq
MIRT1179187	hsa-miR-3607-3p	CLIP-seq
MIRT1179165	hsa-miR-3653	CLIP-seq
MIRT1179166	hsa-miR-3658	CLIP-seq
MIRT1179156	hsa-miR-4307	CLIP-seq
MIRT1179188	hsa-miR-4429	CLIP-seq
MIRT1179168	hsa-miR-4438	CLIP-seq
MIRT1179169	hsa-miR-4511	CLIP-seq
MIRT1179189	hsa-miR-451b	CLIP-seq
MIRT1179171	hsa-miR-4528	CLIP-seq
MIRT1179157	hsa-miR-466	CLIP-seq
MIRT1179158	hsa-miR-4666-5p	CLIP-seq
MIRT1179159	hsa-miR-4672	CLIP-seq
MIRT1179172	hsa-miR-4684-3p	CLIP-seq
MIRT1179190	hsa-miR-4720-3p	CLIP-seq
MIRT1179191	hsa-miR-4735-3p	CLIP-seq
MIRT1179192	hsa-miR-4761-5p	CLIP-seq
MIRT1179193	hsa-miR-4793-3p	CLIP-seq
MIRT1179194	hsa-miR-4804-3p	CLIP-seq
MIRT1179195	hsa-miR-518a-5p	CLIP-seq
MIRT1179196	hsa-miR-520d-5p	CLIP-seq
MIRT1179197	hsa-miR-524-5p	CLIP-seq
MIRT1179198	hsa-miR-527	CLIP-seq
MIRT1179174	hsa-miR-548b-3p	CLIP-seq
MIRT1179160	hsa-miR-607	CLIP-seq
MIRT1179199	hsa-miR-649	CLIP-seq
MIRT1179154	hsa-miR-1305	CLIP-seq
MIRT2280927	hsa-miR-1321	CLIP-seq
MIRT2280928	hsa-miR-1323	CLIP-seq
MIRT2280929	hsa-miR-139-5p	CLIP-seq
MIRT2280930	hsa-miR-3189-3p	CLIP-seq
MIRT2280931	hsa-miR-3672	CLIP-seq
MIRT2280932	hsa-miR-369-3p	CLIP-seq
MIRT2280933	hsa-miR-374a	CLIP-seq
MIRT2280934	hsa-miR-374b	CLIP-seq
MIRT2280935	hsa-miR-4495	CLIP-seq
MIRT1179158	hsa-miR-4666-5p	CLIP-seq
MIRT2280936	hsa-miR-4686	CLIP-seq
MIRT2280937	hsa-miR-4734	CLIP-seq
MIRT2280938	hsa-miR-4739	CLIP-seq
MIRT2280939	hsa-miR-4756-5p	CLIP-seq
MIRT2280940	hsa-miR-4786-5p	CLIP-seq
MIRT1179193	hsa-miR-4793-3p	CLIP-seq
MIRT2280941	hsa-miR-520f	CLIP-seq
MIRT2280942	hsa-miR-526b	CLIP-seq
MIRT2280943	hsa-miR-548a-3p	CLIP-seq
MIRT2280944	hsa-miR-548aa	CLIP-seq
MIRT2280945	hsa-miR-548e	CLIP-seq
MIRT2280946	hsa-miR-548f	CLIP-seq
MIRT2280947	hsa-miR-548o	CLIP-seq
MIRT2280948	hsa-miR-568	CLIP-seq
MIRT2280949	hsa-miR-582-5p	CLIP-seq
MIRT1179160	hsa-miR-607	CLIP-seq
MIRT2280950	hsa-miR-635	CLIP-seq
MIRT1179176	hsa-miR-644	CLIP-seq
MIRT2280951	hsa-miR-663b	CLIP-seq
MIRT2280952	hsa-miR-759	CLIP-seq
MIRT2280953	hsa-miR-769-5p	CLIP-seq
MIRT2280954	hsa-miR-885-5p	CLIP-seq
MIRT2280955	hsa-miR-889	CLIP-seq
MIRT2280956	hsa-miR-944	CLIP-seq
MIRT1179154	hsa-miR-1305	CLIP-seq
MIRT1179156	hsa-miR-4307	CLIP-seq
MIRT1179158	hsa-miR-4666-5p	CLIP-seq
MIRT1179195	hsa-miR-518a-5p	CLIP-seq
MIRT1179198	hsa-miR-527	CLIP-seq
MIRT1179160	hsa-miR-607	CLIP-seq
MIRT1179161	hsa-miR-139-3p	CLIP-seq
MIRT1179165	hsa-miR-3653	CLIP-seq
MIRT1179166	hsa-miR-3658	CLIP-seq
MIRT2579352	hsa-miR-4477b	CLIP-seq
MIRT1179169	hsa-miR-4511	CLIP-seq
MIRT1179170	hsa-miR-4517	CLIP-seq
MIRT1179172	hsa-miR-4684-3p	CLIP-seq
MIRT2579353	hsa-miR-4699-5p	CLIP-seq
MIRT2579354	hsa-miR-4753-3p	CLIP-seq
MIRT1179173	hsa-miR-4781-3p	CLIP-seq
MIRT1179174	hsa-miR-548b-3p	CLIP-seq
MIRT2280956	hsa-miR-944	CLIP-seq
MIRT1179161	hsa-miR-139-3p	CLIP-seq
MIRT2686133	hsa-miR-3198	CLIP-seq
MIRT1179165	hsa-miR-3653	CLIP-seq
MIRT1179166	hsa-miR-3658	CLIP-seq
MIRT2686134	hsa-miR-4309	CLIP-seq
MIRT1179168	hsa-miR-4438	CLIP-seq
MIRT1179169	hsa-miR-4511	CLIP-seq
MIRT1179170	hsa-miR-4517	CLIP-seq
MIRT1179172	hsa-miR-4684-3p	CLIP-seq
MIRT1179173	hsa-miR-4781-3p	CLIP-seq
MIRT1179174	hsa-miR-548b-3p	CLIP-seq

Show/Hide all (37)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	15186778, 30879903, 32807793, 32814053
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	30879903
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IDA	28844695
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005758	Component	Mitochondrial intermembrane space	IDA	15186778
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006120	Process	Mitochondrial electron transport, NADH to ubiquinone	IMP	31557978
GO:0006120	Process	Mitochondrial electron transport, NADH to ubiquinone	NAS	9878551
GO:0008137	Function	NADH dehydrogenase (ubiquinone) activity	IBA
GO:0008137	Function	NADH dehydrogenase (ubiquinone) activity	IEA
GO:0008137	Function	NADH dehydrogenase (ubiquinone) activity	IMP	15824269, 16478720, 16870178
GO:0008137	Function	NADH dehydrogenase (ubiquinone) activity	IMP	30879903, 31557978
GO:0008137	Function	NADH dehydrogenase (ubiquinone) activity	NAS	9878551
GO:0009055	Function	Electron transfer activity	IEA
GO:0009055	Function	Electron transfer activity	NAS	1935949
GO:0009060	Process	Aerobic respiration	NAS	30030361
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016651	Function	Oxidoreductase activity, acting on NAD(P)H	IEA
GO:0032981	Process	Mitochondrial respiratory chain complex I assembly	IBA
GO:0032981	Process	Mitochondrial respiratory chain complex I assembly	IEA
GO:0032981	Process	Mitochondrial respiratory chain complex I assembly	IMP	16478720, 30879903, 31557978
GO:0042773	Process	ATP synthesis coupled electron transport	IEA
GO:0042776	Process	Proton motive force-driven mitochondrial ATP synthesis	NAS	30030361
GO:0045271	Component	Respiratory chain complex I	IDA	12611891
GO:0045271	Component	Respiratory chain complex I	IEA
GO:0045271	Component	Respiratory chain complex I	IMP	16478720
GO:0045271	Component	Respiratory chain complex I	NAS	9878551
GO:0045333	Process	Cellular respiration	IMP	15186778
GO:0046872	Function	Metal ion binding	IEA
GO:0051536	Function	Iron-sulfur cluster binding	IEA
GO:0051537	Function	2 iron, 2 sulfur cluster binding	IEA
GO:0051539	Function	4 iron, 4 sulfur cluster binding	IEA
GO:1902600	Process	Proton transmembrane transport	IEA

MIM	HGNC	e!Ensembl
157655	7707	ENSG00000023228

P28331

Protein name

NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial (EC 7.1.1.2) (Complex I-75kD) (CI-75kD)

Protein function

Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor (PubMed:30879903, PubMed:31557978). E

PDB

5XTB , 5XTD , 5XTH , 5XTI

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13510	Fer2_4	29 → 107		Domain
PF10588	NADH-G_4Fe-4S_3	113 → 152	NADH-ubiquinone oxidoreductase-G iron-sulfur binding region	Domain
PF00384	Molybdopterin	301 → 629	Molybdopterin oxidoreductase	Family
PF09326	NADH_dhqG_C	658 → 710	NADH-ubiquinone oxidoreductase subunit G, C-terminal	Family

Sequence

MLRIPVRKALVGLSKSPKGCVRTTATAASNLIEVFVDGQSVMVEPGTTVLQACEKVGMQI
PRFCYHERLSVAGNCRMCLVEIEKAPKVVAACAMPVMKGWNILTNSEKSKKAREGVMEFL
LANHPLDCPICDQGGECDLQDQSMMFGNDRSRFLEGKRAVEDKNIGPLVKTIMTRCIQCT
RCIRFASEIAGVDDLGTTGRGNDMQVGTYIEKMFMSELSGNIIDICPVGALTSKPYAFTA
RPWETRKTESIDVMDAVGSNIVVSTRTGEVMRILPRMHEDINEEWISDKTRFAYDGLKRQ
RLTEPMVRNEKGLLTYTSWEDALSRVAGMLQSFQGKDVAAIAGGLVDAEALVALKDLLNR
VDSDTLCTEEVFPTAGAGTDLRSNYLLNTTIAGVEEADVVLLVGTNPRFEAPLFNARIRK
SWLHNDLKVALIGSPVDLTYTYDHLGDSPKILQDIASGSHPFSQVLKEAKKPMVVLGSSA
LQRNDGAAILAAVSSIAQKIRMTSGVTGDWKVMNILHRIASQVAALDLGYKPGVEAIRKN
PPKVLFLLGADGGCITRQDLPKDCFIIYQGHHGDVGAPIADVILPGAAYTEKSATYVNTE
GRAQQTKVAVTPPGLAREDWKIIRALSEIAGMTLPYDTLDQVRNRLEEVSPNLVRYDDIE
GANYFQQANELSKLVNQQLLADPLVPPQLTIKDFYMTDSISRASQTMAKCVKAVTEGAQA
VEEPSIC

Sequence length

727

Interactions

View interactions

	KEGG		Reactome
	Oxidative phosphorylation Metabolic pathways Thermogenesis Retrograde endocannabinoid signaling Non-alcoholic fatty liver disease Alzheimer disease Parkinson disease Amyotrophic lateral sclerosis Huntington disease Prion disease Pathways of neurodegeneration - multiple diseases Chemical carcinogenesis - reactive oxygen species Diabetic cardiomyopathy		Respiratory electron transport Complex I biogenesis

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Leigh syndrome	Likely pathogenic	rs2470066855, rs1559047521, rs747249702	RCV006259577 RCV000986981 RCV000986985	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MELAS syndrome	Likely pathogenic	rs786205666	RCV000170569	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial complex I deficiency, nuclear type 1	Likely pathogenic; Pathogenic	rs1485032272, rs750971390	RCV000768439 RCV000768438	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial complex I deficiency, nuclear type 5	Likely pathogenic; Pathogenic	rs2105945363, rs571051013, rs1484648743, rs370009373, rs757522804, rs397515383, rs199422224, rs2470066855, rs1179324500, rs750285313, rs387907199, rs370411488, rs151279101, rs750971390, rs397515447, rs372691318, rs1321888585 View all (2 more)	RCV001782505 RCV002468752 RCV005254123 RCV003992230 RCV003493238 View all (12 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mitochondrial disease	Likely pathogenic	rs863224101	RCV004720220	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NDUFS1-related disorder	Likely pathogenic; Pathogenic	rs2470067092, rs2470000841	RCV003404172 RCV003402201	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (28)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, HYPERTROPHIC	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY ONSET SCHIZOPHRENIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FRONTOTEMPORAL DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC CARDIOMYOPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEIGH SYNDROME WITH LEUKODYSTROPHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial complex I deficiency	Conflicting classifications of pathogenicity; Likely benign; Uncertain significance	ClinVar CTD, Disgenet CTD, Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MITOCHONDRIAL DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (91)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Anemia	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	19894076		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	26093828		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain atrophy	Brain atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	39684297	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	36658121, 39684297	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	27516145		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	36658121	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28063846		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cyanosis	Cyanosis	Pubtator	36042640	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Early onset schizophrenia	Schizophrenia	BEFREE	16788776, 19894076, 26053550		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Early onset schizophrenia	Schizophrenia	PSYGENET_DG	16788776, 19894076		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Encephalopathies	Epileptic encephalopathy	BEFREE	22399432		★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	GWASCAT_DG	29724592		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	31863644	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	21364753		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrichosis	HYPERTRICHOSIS	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	CTD_human_DG	9527842		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	CTD_human_DG	9527842		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Isolated complex I deficiency	Isolated Complex I Deficiency	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	CLINGEN_DG	11349233, 15186778, 1582426, 1935949, 20382551, 21203893, 21458341, 22200994, 24952175, 25615419, 27626380, 9878551		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	BEFREE	15824269, 20819849		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	LHGDN	15824269		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	GENOMICS_ENGLAND_DG	25615419		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh syndrome	Pubtator	36042640, 36403546	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	Leigh Syndrome	CLINGEN_DG	11349233, 15186778, 1582426, 1935949, 20382551, 21203893, 21458341, 22200994, 24952175, 25615419, 27626380, 9878551		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Syndrome Due To Mitochondrial Complex II Deficiency	Leigh Syndrome	CLINGEN_DG	11349233, 15186778, 1582426, 1935949, 20382551, 21203893, 21458341, 22200994, 24952175, 25615419, 27626380, 9878551		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Syndrome due to Mitochondrial Complex III Deficiency	Leigh Syndrome	CLINGEN_DG	11349233, 15186778, 1582426, 1935949, 20382551, 21203893, 21458341, 22200994, 24952175, 25615419, 27626380, 9878551		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Syndrome due to Mitochondrial Complex IV Deficiency	Leigh Syndrome	CLINGEN_DG	11349233, 15186778, 1582426, 1935949, 20382551, 21203893, 21458341, 22200994, 24952175, 25615419, 27626380, 9878551		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Syndrome due to Mitochondrial Complex V Deficiency	Leigh Syndrome	CLINGEN_DG	11349233, 15186778, 1582426, 1935949, 20382551, 21203893, 21458341, 22200994, 24952175, 25615419, 27626380, 9878551		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh syndrome with leukodystrophy	Leigh Syndrome With Leukodystrophy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukodystrophy	Leukodystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	BEFREE	24952175		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	27516145	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	27516145		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	21364753		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of testis	Malignant Neoplasm Of Testis	BEFREE	30764484		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28063846		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Testicular Germ Cell Tumor	Malignant testicular germ cell tumor	BEFREE	30764484		★★★★★ ★☆☆☆☆ Found in Text Mining only
MELAS Syndrome	MELAS Syndrome	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MITOCHONDRIAL COMPLEX I DEFICIENCY	Mitochondrial Complex Deficiency	BEFREE	11349233, 15824269		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Mitochondrial complex I deficiency	Mitochondrial complex deficiency	Pubtator	11349233, 18435906, 27516145, 31557978, 36042640	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MITOCHONDRIAL COMPLEX I DEFICIENCY	Mitochondrial Complex Deficiency	ORPHANET_DG	20382551, 22644603		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MITOCHONDRIAL COMPLEX I DEFICIENCY	Mitochondrial Complex Deficiency	GENOMICS_ENGLAND_DG	25615419, 25655951, 27604308		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MITOCHONDRIAL COMPLEX I DEFICIENCY	Mitochondrial Complex Deficiency	CLINVAR_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5	Mitochondrial Complex Deficiency	UNIPROT_DG	11349233		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5	Mitochondrial Complex Deficiency	CLINVAR_DG	19167255, 20382551, 21458341		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5	Mitochondrial Complex Deficiency	GENOMICS_ENGLAND_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mitochondrial Diseases	Mitochondrial Diseases	GENOMICS_ENGLAND_DG	27604308		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial disease	Pubtator	30764484, 31863644, 36042640	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial encephalopathy	Mitochondrial encephalopathy	BEFREE	19210954		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial encephalopathy	Mitochondrial encephalopathy	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Myopathies	Mitochondrial myopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Necrotizing encephalopathy, infantile subacute, of Leigh	Necrotizing encephalomyelopathy	CLINGEN_DG	11349233, 15186778, 1582426, 1935949, 20382551, 21203893, 21458341, 22200994, 24952175, 25615419, 27626380, 9878551		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	27516145		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	36675163	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	27516145		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	25298284	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	19210954		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	19894076		★★★★★ ★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28063846		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	PSYGENET_DG	16788776		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	24196945, 25354934		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	26053550	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	21364753		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)	Arthrocutaneouveal granulomatosis	BEFREE	19894076		★★★★★ ★☆☆☆☆ Found in Text Mining only
Testicular Neoplasms	Testicular neoplasm	Pubtator	30764484	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

NDUFS1 (NADH:ubiquinone oxidoreductase core subunit S1)