UQCRFS1 (ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1)

Gene

• Entrez ID: 7386
• Gene name: Ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1
• Gene symbol: UQCRFS1
• Synonyms (NCBI Gene): MC3DN10, RIP1, RIS1, RISP, UQCR5
• Disease Acronyms (UniProt): MC3DN10
• Chromosome: 19
• Chromosome location: 19q12

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1242465339	G>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs1568344751	C>G	Pathogenic	Splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT006517	hsa-miR-155-5p	Luciferase reporter assay, Western blot	20550618
MIRT006517	hsa-miR-155-5p	Luciferase reporter assay, Western blot	20550618
MIRT050913	hsa-miR-17-5p	CLASH	23622248
MIRT044309	hsa-miR-106b-5p	CLASH	23622248
MIRT039761	hsa-miR-615-3p	CLASH	23622248
MIRT500595	hsa-miR-23c	PAR-CLIP	20371350
MIRT500594	hsa-miR-130a-5p	PAR-CLIP	20371350
MIRT500593	hsa-miR-23b-3p	PAR-CLIP	20371350
MIRT500592	hsa-miR-23a-3p	PAR-CLIP	20371350
MIRT500591	hsa-miR-10a-3p	PAR-CLIP	20371350
MIRT500590	hsa-miR-409-3p	PAR-CLIP	20371350
MIRT500589	hsa-miR-33a-3p	PAR-CLIP	20371350
MIRT500588	hsa-miR-205-3p	PAR-CLIP	20371350
MIRT565071	hsa-miR-7159-5p	PAR-CLIP	20371350
MIRT565070	hsa-miR-505-3p	PAR-CLIP	20371350
MIRT565069	hsa-miR-421	PAR-CLIP	20371350
MIRT500587	hsa-miR-548aw	PAR-CLIP	20371350
MIRT500586	hsa-miR-518a-5p	PAR-CLIP	20371350
MIRT500585	hsa-miR-527	PAR-CLIP	20371350
MIRT500584	hsa-miR-450b-5p	PAR-CLIP	20371350
MIRT500595	hsa-miR-23c	PAR-CLIP	24398324
MIRT500594	hsa-miR-130a-5p	PAR-CLIP	24398324
MIRT500593	hsa-miR-23b-3p	PAR-CLIP	24398324
MIRT500592	hsa-miR-23a-3p	PAR-CLIP	24398324
MIRT500591	hsa-miR-10a-3p	PAR-CLIP	24398324
MIRT500590	hsa-miR-409-3p	PAR-CLIP	24398324
MIRT500589	hsa-miR-33a-3p	PAR-CLIP	24398324
MIRT500588	hsa-miR-205-3p	PAR-CLIP	24398324
MIRT500587	hsa-miR-548aw	PAR-CLIP	24398324
MIRT500586	hsa-miR-518a-5p	PAR-CLIP	24398324
MIRT500585	hsa-miR-527	PAR-CLIP	24398324
MIRT500584	hsa-miR-450b-5p	PAR-CLIP	24398324
MIRT500595	hsa-miR-23c	PAR-CLIP	20371350
MIRT500594	hsa-miR-130a-5p	PAR-CLIP	20371350
MIRT500593	hsa-miR-23b-3p	PAR-CLIP	20371350
MIRT500592	hsa-miR-23a-3p	PAR-CLIP	20371350
MIRT500591	hsa-miR-10a-3p	PAR-CLIP	20371350
MIRT500590	hsa-miR-409-3p	PAR-CLIP	20371350
MIRT500589	hsa-miR-33a-3p	PAR-CLIP	20371350
MIRT500588	hsa-miR-205-3p	PAR-CLIP	20371350
MIRT565071	hsa-miR-7159-5p	PAR-CLIP	20371350
MIRT565070	hsa-miR-505-3p	PAR-CLIP	20371350
MIRT565069	hsa-miR-421	PAR-CLIP	20371350
MIRT500587	hsa-miR-548aw	PAR-CLIP	20371350
MIRT500586	hsa-miR-518a-5p	PAR-CLIP	20371350
MIRT500585	hsa-miR-527	PAR-CLIP	20371350
MIRT500584	hsa-miR-450b-5p	PAR-CLIP	20371350
MIRT500595	hsa-miR-23c	PAR-CLIP	24398324
MIRT500594	hsa-miR-130a-5p	PAR-CLIP	24398324
MIRT500593	hsa-miR-23b-3p	PAR-CLIP	24398324
MIRT500592	hsa-miR-23a-3p	PAR-CLIP	24398324
MIRT500591	hsa-miR-10a-3p	PAR-CLIP	24398324
MIRT500590	hsa-miR-409-3p	PAR-CLIP	24398324
MIRT500589	hsa-miR-33a-3p	PAR-CLIP	24398324
MIRT500588	hsa-miR-205-3p	PAR-CLIP	24398324
MIRT500587	hsa-miR-548aw	PAR-CLIP	24398324
MIRT500586	hsa-miR-518a-5p	PAR-CLIP	24398324
MIRT500585	hsa-miR-527	PAR-CLIP	24398324
MIRT500584	hsa-miR-450b-5p	PAR-CLIP	24398324
MIRT1476697	hsa-miR-1257	CLIP-seq
MIRT1476698	hsa-miR-1297	CLIP-seq
MIRT1476699	hsa-miR-132	CLIP-seq
MIRT1476700	hsa-miR-212	CLIP-seq
MIRT1476701	hsa-miR-23a	CLIP-seq
MIRT1476702	hsa-miR-23b	CLIP-seq
MIRT1476703	hsa-miR-26a	CLIP-seq
MIRT1476704	hsa-miR-26b	CLIP-seq
MIRT1476705	hsa-miR-3136-5p	CLIP-seq
MIRT1476706	hsa-miR-3183	CLIP-seq
MIRT1476707	hsa-miR-3671	CLIP-seq
MIRT1476708	hsa-miR-371-5p	CLIP-seq
MIRT1476709	hsa-miR-371b-5p	CLIP-seq
MIRT1476710	hsa-miR-4272	CLIP-seq
MIRT1476711	hsa-miR-4439	CLIP-seq
MIRT1476712	hsa-miR-4465	CLIP-seq
MIRT1476713	hsa-miR-4477a	CLIP-seq
MIRT1476714	hsa-miR-4513	CLIP-seq
MIRT1476715	hsa-miR-4711-3p	CLIP-seq
MIRT1476716	hsa-miR-4720-3p	CLIP-seq
MIRT1476717	hsa-miR-4723-3p	CLIP-seq
MIRT1476718	hsa-miR-4762-5p	CLIP-seq
MIRT1476719	hsa-miR-4766-5p	CLIP-seq
MIRT1476720	hsa-miR-4804-3p	CLIP-seq
MIRT1476721	hsa-miR-499-3p	CLIP-seq
MIRT1476722	hsa-miR-499a-3p	CLIP-seq
MIRT1476723	hsa-miR-511	CLIP-seq
MIRT1476724	hsa-miR-516a-3p	CLIP-seq
MIRT1476725	hsa-miR-520f	CLIP-seq
MIRT1476726	hsa-miR-548l	CLIP-seq
MIRT1476727	hsa-miR-600	CLIP-seq
MIRT1476728	hsa-miR-607	CLIP-seq
MIRT1476698	hsa-miR-1297	CLIP-seq
MIRT1476701	hsa-miR-23a	CLIP-seq
MIRT1476702	hsa-miR-23b	CLIP-seq
MIRT1476703	hsa-miR-26a	CLIP-seq
MIRT1476704	hsa-miR-26b	CLIP-seq
MIRT1476706	hsa-miR-3183	CLIP-seq
MIRT1476707	hsa-miR-3671	CLIP-seq
MIRT1476708	hsa-miR-371-5p	CLIP-seq
MIRT1476709	hsa-miR-371b-5p	CLIP-seq
MIRT1476712	hsa-miR-4465	CLIP-seq
MIRT1476717	hsa-miR-4723-3p	CLIP-seq
MIRT1476718	hsa-miR-4762-5p	CLIP-seq
MIRT1476721	hsa-miR-499-3p	CLIP-seq
MIRT1476722	hsa-miR-499a-3p	CLIP-seq
MIRT1476724	hsa-miR-516a-3p	CLIP-seq
MIRT1476727	hsa-miR-600	CLIP-seq
MIRT1476728	hsa-miR-607	CLIP-seq
MIRT1476698	hsa-miR-1297	CLIP-seq
MIRT1476699	hsa-miR-132	CLIP-seq
MIRT1476700	hsa-miR-212	CLIP-seq
MIRT1476701	hsa-miR-23a	CLIP-seq
MIRT1476702	hsa-miR-23b	CLIP-seq
MIRT1476703	hsa-miR-26a	CLIP-seq
MIRT1476704	hsa-miR-26b	CLIP-seq
MIRT1476705	hsa-miR-3136-5p	CLIP-seq
MIRT1476706	hsa-miR-3183	CLIP-seq
MIRT1476707	hsa-miR-3671	CLIP-seq
MIRT1476708	hsa-miR-371-5p	CLIP-seq
MIRT1476709	hsa-miR-371b-5p	CLIP-seq
MIRT1476711	hsa-miR-4439	CLIP-seq
MIRT1476712	hsa-miR-4465	CLIP-seq
MIRT1476714	hsa-miR-4513	CLIP-seq
MIRT1476715	hsa-miR-4711-3p	CLIP-seq
MIRT1476716	hsa-miR-4720-3p	CLIP-seq
MIRT1476717	hsa-miR-4723-3p	CLIP-seq
MIRT1476718	hsa-miR-4762-5p	CLIP-seq
MIRT1476720	hsa-miR-4804-3p	CLIP-seq
MIRT1476721	hsa-miR-499-3p	CLIP-seq
MIRT1476722	hsa-miR-499a-3p	CLIP-seq
MIRT1476723	hsa-miR-511	CLIP-seq
MIRT1476724	hsa-miR-516a-3p	CLIP-seq
MIRT1476725	hsa-miR-520f	CLIP-seq
MIRT1476728	hsa-miR-607	CLIP-seq
MIRT1476698	hsa-miR-1297	CLIP-seq
MIRT1476703	hsa-miR-26a	CLIP-seq
MIRT1476704	hsa-miR-26b	CLIP-seq
MIRT1476706	hsa-miR-3183	CLIP-seq
MIRT1476707	hsa-miR-3671	CLIP-seq
MIRT1476708	hsa-miR-371-5p	CLIP-seq
MIRT1476709	hsa-miR-371b-5p	CLIP-seq
MIRT1476712	hsa-miR-4465	CLIP-seq
MIRT1476717	hsa-miR-4723-3p	CLIP-seq
MIRT1476724	hsa-miR-516a-3p	CLIP-seq
MIRT2657676	hsa-miR-3691-3p	CLIP-seq
MIRT2657677	hsa-miR-627	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	23168492, 27499296, 28380382
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0005739	Component	Mitochondrion	IDA	31883641
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0005750	Component	Mitochondrial respiratory chain complex III	IBA	21873635
GO:0005750	Component	Mitochondrial respiratory chain complex III	IC	31883641
GO:0005750	Component	Mitochondrial respiratory chain complex III	IDA	23168492
GO:0005751	Component	Mitochondrial respiratory chain complex IV	IDA	23168492
GO:0006122	Process	Mitochondrial electron transport, ubiquinol to cytochrome c	IBA	21873635
GO:0006122	Process	Mitochondrial electron transport, ubiquinol to cytochrome c	TAS
GO:0008121	Function	Ubiquinol-cytochrome-c reductase activity	IBA	21873635
GO:0016021	Component	Integral component of membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IBA	21873635
GO:0022904	Process	Respiratory electron transport chain	IMP	31883641
GO:0034551	Process	Mitochondrial respiratory chain complex III assembly	IMP	31883641
GO:0046872	Function	Metal ion binding	IEA
GO:0051537	Function	2 iron, 2 sulfur cluster binding	IEA

Other IDs

• MIM: 191327
• HGNC: 12587
• e!Ensembl: ENSG00000169021

Protein

• UniProt ID: P47985
• Protein name: Cytochrome b-c1 complex subunit Rieske, mitochondrial (EC 7.1.1.8) (Complex III subunit 5) (Cytochrome b-c1 complex subunit 5) (Rieske iron-sulfur protein) (RISP) (Rieske protein UQCRFS1) (Ubiquinol-cytochrome c reductase iron-sulfur subunit) [Cleaved int
• Protein function: [Cytochrome b-c1 complex subunit Rieske, mitochondrial]: Component of the ubiquinol-cytochrome c oxidoreductase, a multisubunit transmembrane complex that is part of the mitochondrial electron transport chain which drives oxidative phosphorylati
• PDB: 5XTE, 5XTH, 5XTI
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF09165	Ubiq-Cytc-red_N	2 → 76	Ubiquinol-cytochrome c reductase 8 kDa, N-terminal	Domain
  PF02921	UCR_TM	80 → 145	Ubiquinol cytochrome reductase transmembrane region	Family
  PF00355	Rieske	153 → 264	Rieske [2Fe-2S] domain	Domain

• Sequence:

  MLSVASRSGPFAPVLSATSRGVAGALRPLVQATVPATPEQPVLDLKRPFLSRESLSGQAV
  RRPLVASVGLNVPASVCYSHTDIKVPDFSEYRRLEVLDSTKSSRESSEARKGFSYLVTGV
  TTVGVAYAAKNAVTQFVSSMSASADVLALAKIEIKLSDIPEGKNMAFKWRGKPLFVRHRT
  QKEIEQEAAVELSQLRDPQHDLDRVKKPEWVILIGVCTHLGCVPIANAGDFGGYYCPCHG
  SHYDASGRIRLGPAPLNLEVPTYEFTSDDMVIVG

• Sequence length: 274

Pathways

KEGG:

Oxidative phosphorylation
Metabolic pathways
Efferocytosis
Cardiac muscle contraction
Thermogenesis
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

Reactome:

Respiratory electron transport

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Cardiomyopathy	Cardiomyopathies	rs267607003, rs267607002, rs267607004, rs63750743, rs121908333, rs121908334, rs104894655, rs121434420, rs121434421, rs193922674, rs111517471, rs121908987, rs193922384, rs121909374, rs121909377, rs2856655, rs587776700, rs387906397, rs137854607, rs28935197, rs199473684, rs121964858, rs74315379, rs74315380, rs104894724, rs104894727, rs104894728, rs104894729, rs104894730, rs121917760, rs267607125, rs104894503, rs267607155, rs267607156, rs121918597, rs121918600, rs28933979, rs121918070, rs76992529, rs111033559, rs111033560, rs104894368, rs104894369, rs104894370, rs121913624, rs3218713, rs121913625, rs121913626, rs121913627, rs121913628, rs121913629, rs121913630, rs121913631, rs121913632, rs3218714, rs121913637, rs121913638, rs121913641, rs121913642, rs121913651, rs267606911, rs267606908, rs730880850, rs61046466, rs57520892, rs28933091, rs28933092, rs28933093, rs121913008, rs121913003, rs121912996, rs121912997, rs193922680, rs387906875, rs199474703, rs199476315, rs199476316, rs199476317, rs199476321, rs199476311, rs193922683, rs193922668, rs386134243, rs267607578, rs36211723, rs193922390, rs193922672, rs193922697, rs387907267, rs45546039, rs387907218, rs397515870, rs397515893, rs397515894, rs397515903, rs397515905, rs375882485, rs397515907, rs397515912, rs397515916, rs397515925, rs397515926, rs397515934, rs397515937, rs397515943, rs397515944, rs397515947, rs397515954, rs112738974, rs111729952, rs397515960, rs397515963, rs397515973, rs397515974, rs397515977, rs376395543, rs397515979, rs397515982, rs397515990, rs397515991, rs397515992, rs397516005, rs113358486, rs397516006, rs397516007, rs397516008, rs373746463, rs397516019, rs397516023, rs397516029, rs397516031, rs397516037, rs397516040, rs397516042, rs397516044, rs397516049, rs397516057, rs397516059, rs397516068, rs397516070, rs397516072, rs397516073, rs397516074, rs397516076, rs397516077, rs397516080, rs397516082, rs397516083, rs397516088, rs397516089, rs397516103, rs397516123, rs397516127, rs371898076, rs397516132, rs397516142, rs3218716, rs397516154, rs397516161, rs397516165, rs397516170, rs397516178, rs397516179, rs397516187, rs397516201, rs397516202, rs145213771, rs397516207, rs397516209, rs397516212, rs397516248, rs397516252, rs397516254, rs397516258, rs397516260, rs45516091, rs397516264, rs397516269, rs397516347, rs397516349, rs397516352, rs397516353, rs397516355, rs397516356, rs397516357, rs397516364, rs397516370, rs397516371, rs397516373, rs397516386, rs397516406, rs397516454, rs397516456, rs397516461, rs397516463, rs397516464, rs45525839, rs397516471, rs45578238, rs111377893, rs397516607, rs62636495, rs397516784, rs397516881, rs397516913, rs397516915, rs397516927, rs397516940, rs397516943, rs397516945, rs397516955, rs397516956, rs397516973, rs397516986, rs397516989, rs372827156, rs397516992, rs397516993, rs397516994, rs397516997, rs397517003, rs397517008, rs397517010, rs397517012, rs397517021, rs397517065, rs397517547, rs397517576, rs397517580, rs397517584, rs397517586, rs397517587, rs397517589, rs397517601, rs397517620, rs397517624, rs397517626, rs397517628, rs72646831, rs397517633, rs397517643, rs72646846, rs397517664, rs397517679, rs397517689, rs397517695, rs397517696, rs397517698, rs397517721, rs397517735, rs397517741, rs397517749, rs397517750, rs397517758, rs397517776, rs397517787, rs397517830, rs397517887, rs397517888, rs397517889, rs58013325, rs397517895, rs56984562, rs267607646, rs58917027, rs267607594, rs397517904, rs61195471, rs60682848, rs267607573, rs397517908, rs58978449, rs397517909, rs267607593, rs397517911, rs56816490, rs397517915, rs267607554, rs397514742, rs886041395, rs397515482, rs267607490, rs58999456, rs267607555, rs61672878, rs267607618, rs267607577, rs57730570, rs267607582, rs267607581, rs61444459, rs59270054, rs61661343, rs267607570, rs59026483, rs267607571, rs59332535, rs199473161, rs398123262, rs869320740, rs606231324, rs587782927, rs201754030, rs58389804, rs587782958, rs587782961, rs587782962, rs587782986, rs138049878, rs376897125, rs368765949, rs111569862, rs727504247, rs727503537, rs727504535, rs727504550, rs727504679, rs727503546, rs730880365, rs727504646, rs727505014, rs727505288, rs727503557, rs727503559, rs730880343, rs727503615, rs727504825, rs727503565, rs727504655, rs727505352, rs727504466, rs727504531, rs727503567, rs371678190, rs727503586, rs727505319, rs727503547, rs727505076, rs727505224, rs727503552, rs727504856, rs727504782, rs727504660, rs557312035, rs727505284, rs727504851, rs727504589, rs727504499, rs727504843, rs727504452, rs727503697, rs150974575, rs727504498, rs727503598, rs727503602, rs727503607, rs727504801, rs727504738, rs727505115, rs727505283, rs727505109, rs727504271, rs727504321, rs727504289, rs727503172, rs727503180, rs727503182, rs727504265, rs727504334, rs727503192, rs397515932, rs727504287, rs200411226, rs727503204, rs727504269, rs367947846, rs730880335, rs727502897, rs727503166, rs111683277, rs727503195, rs727503203, rs727503212, rs727503738, rs727504381, rs727504356, rs727503261, rs727504238, rs148808089, rs45544633, rs727503246, rs397516171, rs727503253, rs202141173, rs727504310, rs727503258, rs727503260, rs727504320, rs727504240, rs727503263, rs727503269, rs727503278, rs727504432, rs727504243, rs727504285, rs727503499, rs727503504, rs727504242, rs727504379, rs727504389, rs727504275, rs727504557, rs727502994, rs727504184, rs730880336, rs730880362, rs730880199, rs730880246, rs72648265, rs730880243, rs730880242, rs730880241, rs574660186, rs730880245, rs730880082, rs730880092, rs730880093, rs730880055, rs397515939, rs730881119, rs397516020, rs730880675, rs730880719, rs730880672, rs730880671, rs730880718, rs730880666, rs730880717, rs730880655, rs730880715, rs730880654, rs730880714, rs730880651, rs730880648, rs730880713, rs730880546, rs730880695, rs730880533, rs730880531, rs730880639, rs730880689, rs730880686, rs730880629, rs368121566, rs375607980, rs730880704, rs730880698, rs730880750, rs730880748, rs730880875, rs730880845, rs1565623093, rs786204339, rs786204336, rs786204392, rs786204388, rs786204950, rs786204951, rs794727381, rs760576804, rs112188483, rs794728597, rs794728606, rs794728593, rs59564495, rs190140598, rs794728826, rs794728803, rs794728106, rs149701627, rs1554108152, rs770873593, rs794728124, rs141026028, rs794728094, rs794729098, rs794729116, rs764817683, rs751288871, rs201405287, rs794729137, rs794729133, rs766209297, rs767987619, rs769220833, rs794729120, rs112240298, rs748382770, rs794729365, rs794729301, rs757451467, rs794729359, rs794729354, rs794729353, rs794729285, rs794729284, rs794729338, rs794729332, rs368452607, rs794729278, rs794729325, rs794729324, rs754866489, rs794729265, rs751502842, rs794729320, rs794729380, rs748313513, rs797046064, rs863225113, rs863225106, rs761507504, rs864622224, rs1057515421, rs751039219, rs869025555, rs869025546, rs869025554, rs869025559, rs869025545, rs869025558, rs869025557, rs200797552, rs869025550, rs869025549, rs869025544, rs869025552, rs869025548, rs869025556, rs770029258, rs869025523, rs869025398, rs869025399, rs869025395, rs869025365, rs869025469, rs869025483, rs749838192, rs869312028, rs869312037, rs869312038, rs869312039, rs869312040, rs869312041, rs869312042, rs869312044, rs869312046, rs373040154, rs869312047, rs869312048, rs869312049, rs869312050, rs869312051, rs869312052, rs869312054, rs869312055, rs777602537, rs869312056, rs869312057, rs869312058, rs869312059, rs869312060, rs770038577, rs869312061, rs869312062, rs869312063, rs869312064, rs869312065, rs869312066, rs869312067, rs869312068, rs869312069, rs771562210, rs869312070, rs869312071, rs759231562, rs869312072, rs869312073, rs764243269, rs768345594, rs869312074, rs869312075, rs869312076, rs869312077, rs869312078, rs869312079, rs869312080, rs772121356, rs869312081, rs869312082, rs72648250, rs869312083, rs869312084, rs869312085, rs869312086, rs869312087, rs869312100, rs779129892, rs756367933, rs869312102, rs869312103, rs869312104, rs869312105, rs869312106, rs770767998, rs869312107, rs775186117, rs869312108, rs869312109, rs869312110, rs869312111, rs755261062, rs869312112, rs763824247, rs869312113, rs869312114, rs869312115, rs869312116, rs774604740, rs869312117, rs779996703, rs869312118, rs869312119, rs869312120, rs869312121, rs869312122, rs869312045, rs753948675, rs878854371, rs794728589, rs876657650, rs727503512, rs876658027, rs876657672, rs876657671, rs868494032, rs876657670, rs780512337, rs876657669, rs876657668, rs876657666, rs876657665, rs876657664, rs876657663, rs148894066, rs876657634, rs869248137, rs876657705, rs876657704, rs727503213, rs869025496, rs876657662, rs876657884, rs36211715, rs878855234, rs879255521, rs879255639, rs886038928, rs751746401, rs886039030, rs869038795, rs886039343, rs2069544, rs1114167341, rs1114167340, rs886041322, rs886042331, rs886043718, rs747662439, rs886043924, rs773840992, rs886044536, rs1057517903, rs754354190, rs779650200, rs902082118, rs1057518920, rs1057519457, rs1057523045, rs370072439, rs1064792916, rs1060500495, rs1060500575, rs926741242, rs774763657, rs746877365, rs1060500610, rs1060501484, rs1060501479, rs1064792928, rs1060501443, rs1060499604, rs1064793814, rs1064796347, rs977277400, rs1064793429, rs745811346, rs1064794350, rs1555142963, rs1064793983, rs769665204, rs751261054, rs769139957, rs1131691873, rs1131691655, rs1131691673, rs1464253797, rs1408345511, rs1553603152, rs1554398705, rs1322596650, rs1553539995, rs1553611989, rs749961489, rs1444727212, rs1243301263, rs971618751, rs1553662326, rs1389777522, rs764985774, rs1554108287, rs1554105911, rs1249913357, rs1554108012, rs111806457, rs1402879259, rs748416758, rs794727046, rs1425855043, rs869178171, rs1432810664, rs749465164, rs878898365, rs1419374180, rs770878165, rs1553503113, rs1553691320, rs1553577362, rs1553603456, rs1417036453, rs1553741321, rs1553479603, rs1553607425, rs974671846, rs1420159591, rs745688425, rs1554875409, rs1555144459, rs1555338080, rs1555338574, rs1555148035, rs200889953, rs1401116572, rs1285329277, rs974510652, rs1263987728, rs1555122928, rs992189342, rs1555142971, rs1553261855, rs1553265647, rs1553488049, rs1553644307, rs1553663867, rs1553940122, rs28763965, rs758891557, rs762110595, rs1555436118, rs1555435531, rs565910322, rs376766195, rs1562168768, rs763443331, rs1562169661, rs1370579526, rs1561703922, rs1564773559, rs1559003939, rs1559598775, rs1559415567, rs1559877046, rs776970935, rs553526525, rs1561698362, rs1561694696, rs1561702640, rs730880751, rs1060505018, rs766330686, rs1565631430, rs1565050320, rs876657767, rs1565053085, rs1565053147, rs1557778277, rs1557776329, rs886039136, rs771262904, rs727504314, rs1563000044, rs541612157, rs766265889, rs1558988204, rs1559051231, rs1559262463, rs1559448864, rs1559469421, rs1559556267, rs1559746821, rs1559873786, rs1561323791, rs1561445221, rs1561686893, rs1561698714, rs1561702549, rs1565623439, rs1565623713, rs1565626367, rs1565627110, rs1565627145, rs397515889, rs1565628520, rs774316050, rs1592798444, rs1565590309, rs1566967399, rs1569552936, rs1559712733, rs1561690319, rs1561701721, rs869125101, rs1595843553, rs1576018303, rs746115846, rs777315336, rs1431206462, rs1572358674, rs1477669354, rs1575584918, rs1575614351, rs72648222, rs1575799625, rs1576014673, rs1576147786, rs747469275, rs1581805658, rs1227662860, rs1585169831, rs1592729525, rs762753884, rs1596155145, rs1572358821, rs991187915, rs1575649368, rs1060500562, rs1450218521, rs775256998, rs1572332762, rs1571627006, rs1575253896, rs1575616801, rs1575775337, rs1575948935, rs1574083547, rs1574087037, rs1589632398, rs1585171818, rs1603365762, rs768079285, rs1575663327, rs1575796530, rs1574659116, rs267607001, rs1567093598, rs1572359848, rs1060500505, rs1575512482, rs1575872984, rs1161735211, rs1576141328, rs906494713, rs1576685753, rs1266489077, rs1581813564, rs778808038, rs397516363, rs1596386673, rs1575610911, rs727503266, rs1603377936, rs777702465, rs1708504899, rs2054381012, rs1575285509, rs1695435412, rs1699247877, rs879139686, rs2060187635, rs761380979, rs1464886350, rs1956192035, rs752522753, rs1205836993, rs2095894178
Propionic acidemia	Propionic acidemia	rs121964959, rs587776758, rs121964960, rs111033542, rs202247821, rs121964961, rs1576327011, rs2147483647, rs121964957, rs121964958, rs1362195093, rs202247814, rs202247815, rs138149179, rs397507445, rs202247820, rs186710233, rs202247822, rs202247823, rs202247818, rs202247819, rs398123297, rs398123460, rs398123463, rs398123464, rs786200983, rs794726976, rs794727092, rs776496862, rs794727334, rs794727620, rs374722096, rs796052021, rs1553778865, rs572246667, rs796052019, rs796052018, rs879253813, rs879253814, rs879253815, rs777027944, rs879253816, rs749908889, rs879253804, rs879253809, rs879253812, rs879253807, rs879253801, rs879253808, rs760387660, rs879253811, rs879253802, rs879253810, rs879253806, rs768703749, rs879253803, rs771438170, rs369982920, rs769521436, rs186031457, rs752761437, rs886044246, rs780837200, rs573607437, rs1196443543, rs1389933015, rs754752068, rs1553774015, rs753981900, rs1553778912, rs1553779458, rs1553780163, rs1385850128, rs1553782747, rs1553784684, rs1292452485, rs1553774018, rs1317017233, rs1304714042, rs752377212, rs1553777590, rs769968548, rs1553784569, rs1553784921, rs1553774884, rs755776820, rs746102997, rs1553777571, rs777455573, rs1553778914, rs751538672, rs1553784721, rs1553782779, rs778742647, rs1555400381, rs367615795, rs1555422449, rs1555327702, rs1555327732, rs1555342593, rs141371306, rs1467680142, rs192171304, rs1555331314, rs972937270, rs1555361758, rs1555298451, rs1194679272, rs781030239, rs745571507, rs1443858896, rs199604072, rs776281864, rs1241896966, rs748393514, rs1317003529, rs1559995259, rs1387778734, rs1566767338, rs746286209, rs1593996210, rs1594961338, rs1576402832, rs1391142709, rs1021206121, rs756414710, rs774249198, rs1576337935, rs1576360488, rs1576360539, rs1576360934, rs1576360976, rs372093520, rs1593996636, rs1594413545, rs1594413897, rs1421021643, rs1594961620, rs1594992191, rs368047060, rs1595033018, rs1595202534, rs1595202607, rs1595236063, rs1594099731, rs1594160545, rs1594175453, rs1353971489, rs1594090133, rs1576397633, rs1576361811, rs999936193, rs778530330, rs760976198, rs1234167788, rs1367867218, rs1249235758, rs768935968, rs1323994245, rs1593996563, rs1206838893, rs1595860868, rs1941483338, rs1933813724, rs1349202366, rs764697873, rs2047402577, rs2053984648, rs2059069232, rs776821944, rs2062611307, rs2063433750, rs2062620327

Unknown
Disease term	Disease name	Evidence	References	Source
Mitochondrial Complex Deficiency	mitochondrial complex III deficiency, mitochondrial complex 3 deficiency, nuclear type 10			GenCC
Ischemic Stroke	Ischemic Stroke			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Alopecia	Associate	31883641
Alzheimer Disease	Associate	35432724, 35788655
Breast Neoplasms	Associate	21901141, 22433433
Carcinoma Renal Cell	Inhibit	27845902
Cardiomyopathies	Associate	31883641
Hypoxia	Associate	39513914
Hypoxia Brain	Associate	39513914
Mitochondrial Complex III Deficiency	Associate	31883641
Mitochondrial Diseases	Associate	27845902, 31883641, 39513914
Musculoskeletal Diseases	Associate	35788655
Ovarian Neoplasms	Associate	34439877, 37221238
Primary Ovarian Insufficiency	Associate	37460774
Stomach Neoplasms	Associate	37221238