SFXN4 (sideroflexin 4)

Gene

• Entrez ID: 119559
• Gene name: Sideroflexin 4
• Gene symbol: SFXN4
• Synonyms (NCBI Gene): BCRM1, COXPD18, SLC56A4
• Disease Acronyms (UniProt): COXPD18
• Chromosome: 10
• Chromosome location: 10q26.11
• Summary: This gene encodes a member of the sideroflexin family. The encoded protein is a transmembrane protein of the inner mitochondrial membrane, and is required for mitochondrial respiratory homeostasis and erythropoiesis. Mutations in this gene are associated

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs367932369	C>T	Pathogenic	Splice donor variant
rs398124642	G>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, frameshift variant
rs1156283736	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1380193482	C>A,T	Pathogenic	Splice donor variant
rs1554886159	->T	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1589625048	A>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT468261	hsa-miR-27b-3p	PAR-CLIP	23592263
MIRT468260	hsa-miR-27a-3p	PAR-CLIP	23592263
MIRT468259	hsa-miR-144-3p	PAR-CLIP	23592263
MIRT468258	hsa-miR-4524b-3p	PAR-CLIP	23592263
MIRT468257	hsa-miR-1245a	PAR-CLIP	23592263
MIRT468256	hsa-miR-8079	PAR-CLIP	23592263
MIRT468255	hsa-miR-8062	PAR-CLIP	23592263
MIRT468254	hsa-miR-362-5p	PAR-CLIP	23592263
MIRT468253	hsa-miR-500b-5p	PAR-CLIP	23592263
MIRT468252	hsa-miR-501-5p	PAR-CLIP	23592263
MIRT468251	hsa-miR-128-3p	PAR-CLIP	23592263
MIRT468250	hsa-miR-216a-3p	PAR-CLIP	23592263
MIRT468249	hsa-miR-3681-3p	PAR-CLIP	23592263
MIRT468248	hsa-miR-4524a-3p	PAR-CLIP	23592263
MIRT468247	hsa-miR-3606-5p	PAR-CLIP	23592263
MIRT468246	hsa-miR-921	PAR-CLIP	23592263
MIRT468245	hsa-miR-513a-5p	PAR-CLIP	23592263
MIRT468244	hsa-miR-3672	PAR-CLIP	23592263
MIRT468243	hsa-miR-6864-3p	PAR-CLIP	23592263
MIRT468261	hsa-miR-27b-3p	PAR-CLIP	23592263
MIRT468260	hsa-miR-27a-3p	PAR-CLIP	23592263
MIRT468259	hsa-miR-144-3p	PAR-CLIP	23592263
MIRT468258	hsa-miR-4524b-3p	PAR-CLIP	23592263
MIRT468257	hsa-miR-1245a	PAR-CLIP	23592263
MIRT468256	hsa-miR-8079	PAR-CLIP	23592263
MIRT468255	hsa-miR-8062	PAR-CLIP	23592263
MIRT468254	hsa-miR-362-5p	PAR-CLIP	23592263
MIRT468253	hsa-miR-500b-5p	PAR-CLIP	23592263
MIRT468252	hsa-miR-501-5p	PAR-CLIP	23592263
MIRT468251	hsa-miR-128-3p	PAR-CLIP	23592263
MIRT468250	hsa-miR-216a-3p	PAR-CLIP	23592263
MIRT468249	hsa-miR-3681-3p	PAR-CLIP	23592263
MIRT468248	hsa-miR-4524a-3p	PAR-CLIP	23592263
MIRT468247	hsa-miR-3606-5p	PAR-CLIP	23592263
MIRT468246	hsa-miR-921	PAR-CLIP	23592263
MIRT468245	hsa-miR-513a-5p	PAR-CLIP	23592263
MIRT468244	hsa-miR-3672	PAR-CLIP	23592263
MIRT468243	hsa-miR-6864-3p	PAR-CLIP	23592263
MIRT1342675	hsa-miR-1245	CLIP-seq
MIRT1342676	hsa-miR-128	CLIP-seq
MIRT1342677	hsa-miR-144	CLIP-seq
MIRT1342678	hsa-miR-27a	CLIP-seq
MIRT1342679	hsa-miR-27b	CLIP-seq
MIRT1342680	hsa-miR-3145-5p	CLIP-seq
MIRT1342681	hsa-miR-3194-5p	CLIP-seq
MIRT1342682	hsa-miR-3606	CLIP-seq
MIRT1342683	hsa-miR-4286	CLIP-seq
MIRT1342684	hsa-miR-500b	CLIP-seq
MIRT1342685	hsa-miR-548ac	CLIP-seq
MIRT1342686	hsa-miR-548ae	CLIP-seq
MIRT1342687	hsa-miR-548aj	CLIP-seq
MIRT1342688	hsa-miR-548am	CLIP-seq
MIRT1342689	hsa-miR-548d-3p	CLIP-seq
MIRT1342690	hsa-miR-548x	CLIP-seq
MIRT1342691	hsa-miR-548z	CLIP-seq
MIRT1342692	hsa-miR-766	CLIP-seq
MIRT1342675	hsa-miR-1245	CLIP-seq
MIRT1342676	hsa-miR-128	CLIP-seq
MIRT2621447	hsa-miR-1305	CLIP-seq
MIRT1342677	hsa-miR-144	CLIP-seq
MIRT2621448	hsa-miR-1537	CLIP-seq
MIRT2621449	hsa-miR-185	CLIP-seq
MIRT2621450	hsa-miR-2117	CLIP-seq
MIRT2621451	hsa-miR-2355-5p	CLIP-seq
MIRT1342678	hsa-miR-27a	CLIP-seq
MIRT1342679	hsa-miR-27b	CLIP-seq
MIRT1342680	hsa-miR-3145-5p	CLIP-seq
MIRT2621452	hsa-miR-326	CLIP-seq
MIRT2621453	hsa-miR-330-5p	CLIP-seq
MIRT1342682	hsa-miR-3606	CLIP-seq
MIRT2621454	hsa-miR-3688-5p	CLIP-seq
MIRT2621455	hsa-miR-4254	CLIP-seq
MIRT2621456	hsa-miR-4271	CLIP-seq
MIRT1342683	hsa-miR-4286	CLIP-seq
MIRT2621457	hsa-miR-4306	CLIP-seq
MIRT2621458	hsa-miR-4470	CLIP-seq
MIRT2621459	hsa-miR-4644	CLIP-seq
MIRT2621460	hsa-miR-4667-5p	CLIP-seq
MIRT2621461	hsa-miR-4684-5p	CLIP-seq
MIRT2621462	hsa-miR-4700-5p	CLIP-seq
MIRT2621463	hsa-miR-4725-3p	CLIP-seq
MIRT2621464	hsa-miR-4747-5p	CLIP-seq
MIRT2621465	hsa-miR-490-3p	CLIP-seq
MIRT2621466	hsa-miR-498	CLIP-seq
MIRT1342684	hsa-miR-500b	CLIP-seq
MIRT2621467	hsa-miR-615-5p	CLIP-seq
MIRT2621468	hsa-miR-619	CLIP-seq
MIRT2621469	hsa-miR-637	CLIP-seq
MIRT1342675	hsa-miR-1245	CLIP-seq
MIRT1342676	hsa-miR-128	CLIP-seq
MIRT2621447	hsa-miR-1305	CLIP-seq
MIRT1342677	hsa-miR-144	CLIP-seq
MIRT2621448	hsa-miR-1537	CLIP-seq
MIRT2621449	hsa-miR-185	CLIP-seq
MIRT2621450	hsa-miR-2117	CLIP-seq
MIRT2621451	hsa-miR-2355-5p	CLIP-seq
MIRT1342678	hsa-miR-27a	CLIP-seq
MIRT1342679	hsa-miR-27b	CLIP-seq
MIRT1342680	hsa-miR-3145-5p	CLIP-seq
MIRT2621452	hsa-miR-326	CLIP-seq
MIRT2621453	hsa-miR-330-5p	CLIP-seq
MIRT1342682	hsa-miR-3606	CLIP-seq
MIRT2621454	hsa-miR-3688-5p	CLIP-seq
MIRT2690579	hsa-miR-3914	CLIP-seq
MIRT2621455	hsa-miR-4254	CLIP-seq
MIRT2621456	hsa-miR-4271	CLIP-seq
MIRT1342683	hsa-miR-4286	CLIP-seq
MIRT2621457	hsa-miR-4306	CLIP-seq
MIRT2621458	hsa-miR-4470	CLIP-seq
MIRT2690580	hsa-miR-451	CLIP-seq
MIRT2621459	hsa-miR-4644	CLIP-seq
MIRT2621460	hsa-miR-4667-5p	CLIP-seq
MIRT2621461	hsa-miR-4684-5p	CLIP-seq
MIRT2621462	hsa-miR-4700-5p	CLIP-seq
MIRT2621463	hsa-miR-4725-3p	CLIP-seq
MIRT2621464	hsa-miR-4747-5p	CLIP-seq
MIRT2621465	hsa-miR-490-3p	CLIP-seq
MIRT2621466	hsa-miR-498	CLIP-seq
MIRT1342684	hsa-miR-500b	CLIP-seq
MIRT2621467	hsa-miR-615-5p	CLIP-seq
MIRT2621468	hsa-miR-619	CLIP-seq
MIRT2621469	hsa-miR-637	CLIP-seq
MIRT2690581	hsa-miR-642a	CLIP-seq
MIRT2690582	hsa-miR-873	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005739	Component	Mitochondrion	IDA	30442778
GO:0006865	Process	Amino acid transport	IEA
GO:0015075	Function	Ion transmembrane transporter activity	IEA
GO:0022857	Function	Transmembrane transporter activity	IBA	21873635
GO:0031305	Component	Integral component of mitochondrial inner membrane	IBA	21873635
GO:0034220	Process	Ion transmembrane transport	IEA
GO:1990542	Process	Mitochondrial transmembrane transport	IBA	21873635

Other IDs

• MIM: 615564
• HGNC: 16088
• e!Ensembl: ENSG00000183605

Protein

• UniProt ID: Q6P4A7
• Protein name: Sideroflexin-4 (Breast cancer resistance marker 1)
• Protein function: Mitochondrial amino-acid transporter (By similarity). Does not act as a serine transporter: not able to mediate transport of serine into mitochondria (PubMed:30442778).
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03820	SFXNs	28 → 337	Sideroflexins	Family

• Sequence:

  MSLEQEEETQPGRLLGRRDAVPAFIEPNVRFWITERQSFIRRFLQWTELLDPTNVFISVE
  SIENSRQLLCTNEDVSSPASADQRIQEAWKRSLATVHPDSSNLIPKLFRPAAFLPFMAPT
  VFLSMTPLKGIKSVILPQVFLCAYMAAFNSINGNRSYTCKPLERSLLMAGAVASSTFLGV
  IPQFVQMKYGLTGPWIKRLLPVIFLVQASGMNVYMSRSLESIKGIAVMDKEGNVLGHSRI
  AGTKAVRETLASRIVLFGTSALIPEVFTYFFKRTQYFRKNPGSLWILKLSCTVLAMGLMV
  PFSFSIFPQIGQIQYCSLEEKIQSPTEETEIFYHRGV

• Sequence length: 337

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Combined oxidative phosphorylation deficiency	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18	rs587776508, rs576462794, rs118203917, rs387906327, rs139430866, rs387906962, rs138119149, rs387907061, rs1562800908, rs397515421, rs397514598, rs397514610, rs397514611, rs397514612, rs201431517, rs397514613, rs397514614, rs200286768, rs397515463, rs397515464, rs397515465, rs397515466, rs587777218, rs587777244, rs587777417, rs587777418, rs587777419, rs587777583, rs587777584, rs587777585, rs587777589, rs587777591, rs587777593, rs587777594, rs115079861, rs587777788, rs144972972, rs606231472, rs869320746, rs886037734, rs730880255, rs886037735, rs886037736, rs730882154, rs730882155, rs794726869, rs114638163, rs143712760, rs780383722, rs200105202, rs1554169353, rs751459058, rs775690041, rs863224897, rs863225449, rs869025313, rs869025314, rs869025315, rs781798317, rs754022333, rs869320703, rs869320704, rs771894262, rs764427452, rs879255657, rs778100619, rs759477396, rs1057518742, rs1057518743, rs1057517685, rs1057519299, rs1057523346, rs1057524183, rs1060502161, rs184469579, rs1064794140, rs755122704, rs1064797230, rs202183509, rs1131691396, rs1131692037, rs1161932777, rs144042123, rs777725264, rs563189672, rs763672163, rs746538436, rs1554042187, rs767427194, rs1555532483, rs1394499137, rs1555532484, rs763658299, rs763770476, rs199863563, rs148620369, rs1554147776, rs761385155, rs1555575927, rs1555576642, rs1554169280, rs1407198979, rs1274363168, rs1555726849, rs770871640, rs1555404423, rs924099073, rs775439829, rs1554268077, rs1308121771, rs1047420796, rs1322974029, rs751069628, rs368934219, rs761709212, rs1555342802, rs761334309, rs1554116357, rs536000212, rs565910322, rs376766195, rs1562168768, rs763443331, rs1370579526, rs755068980, rs1567773277, rs761097220, rs780533096, rs746356243, rs1559114055, rs752550279, rs1559094461, rs146988468, rs1561990552, rs1298860043, rs746746116, rs1568293849, rs1559359546, rs1561938413, rs565224393, rs1565216037, rs1035101172, rs1565235204, rs763770414, rs764714439, rs777185638, rs1169927428, rs1229314240, rs1429774361, rs374954001, rs1599560256, rs1582724664, rs1574663066, rs778120270, rs1574675683, rs1365308037, rs1582970514, rs777028011, rs1582957532, rs1170907347, rs773688171, rs1777047446, rs947204455, rs1049082567, rs754537066, rs758094541, rs1689552727, rs2077262520, rs748779965, rs1785349774	24119684
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome	Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome	rs398124642, rs1554886159, rs367932369, rs1380193482, rs1156283736, rs1589625048
Mental retardation	Mild Mental Retardation	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131

Unknown
Disease term	Disease name	Evidence	References	Source
Mitochondrial Diseases	mitochondrial disease			GenCC
Growth And Developmental Delay-Hypotonia-Vision Impairment-Lactic Acidosis Syndrome	growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Carcinoma Non Small Cell Lung	Associate	25732572
Colorectal Neoplasms	Associate	24146633
Mitochondrial Diseases	Associate	35333655