ETFDH (electron transfer flavoprotein dehydrogenase)

Gene

• Entrez ID: 2110
• Gene name: Electron transfer flavoprotein dehydrogenase
• Gene symbol: ETFDH
• Synonyms (NCBI Gene): ETFQO, MADD
• Chromosome: 4
• Chromosome location: 4q32.1
• Summary: This gene encodes a component of the electron-transfer system in mitochondria and is essential for electron transfer from a number of mitochondrial flavin-containing dehydrogenases to the main respiratory chain. Mutations in this gene are associated with

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121964954	G>A	Pathogenic	Missense variant, coding sequence variant
rs121964955	G>A,C,T	Pathogenic	Missense variant, coding sequence variant
rs121964956	T>A,C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs147219158	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs199899494	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs200920510	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs369912835	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs371493232	C>T	Pathogenic	Coding sequence variant, missense variant
rs377656387	C>T	Pathogenic	Coding sequence variant, missense variant
rs377686388	T>C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs387907170	T>C	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs398124151	G>T	Pathogenic	Coding sequence variant, stop gained
rs398124152	C>T	Pathogenic	Coding sequence variant, missense variant
rs398124153	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs549150456	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs727503919	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs746598421	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs751821289	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs754418186	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs761669036	G>A	Pathogenic	Coding sequence variant, missense variant
rs762928354	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs767046886	G>A	Likely-pathogenic	Splice donor variant
rs767795266	AT>-	Uncertain-significance, pathogenic	Coding sequence variant, frameshift variant
rs773668457	C>G,T	Pathogenic	5 prime UTR variant, genic upstream transcript variant, upstream transcript variant, stop gained, coding sequence variant, intron variant, missense variant
rs776428695	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs779253471	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs779896449	T>G	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs780015493	A>G	Pathogenic	Coding sequence variant, missense variant
rs780768015	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs796051958	A>G	Pathogenic	Coding sequence variant, missense variant
rs796051959	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs796051960	G>A	Pathogenic	Stop gained, coding sequence variant
rs796051961	G>C	Pathogenic	Genic upstream transcript variant, splice donor variant, upstream transcript variant, intron variant
rs796051962	->GT	Pathogenic	Frameshift variant, coding sequence variant
rs796051963	CAGGTAAGGTATAGTGA>T	Pathogenic	Coding sequence variant, intron variant, splice donor variant
rs796051964	->T	Pathogenic	Intron variant, coding sequence variant, frameshift variant, genic upstream transcript variant, 5 prime UTR variant, upstream transcript variant
rs796051965	A>G,T	Uncertain-significance, pathogenic	Intron variant
rs796051966	TGT>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs863224869	T>C	Pathogenic	Coding sequence variant, missense variant
rs878853006	A>T	Pathogenic	Intron variant, stop gained, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, upstream transcript variant
rs878853082	C>G	Pathogenic	Stop gained, coding sequence variant
rs949249162	G>A	Pathogenic	Intron variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, stop gained
rs1131691336	T>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1442766122	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1466787789	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1469053638	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554031483	GATAGGA>TCCT	Likely-pathogenic	Coding sequence variant, inframe indel
rs1554031490	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1561251388	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1580406119	T>G	Pathogenic	Splice donor variant
rs1580415323	G>A	Likely-pathogenic	Splice acceptor variant
rs1580422708	C>A	Pathogenic	Stop gained, coding sequence variant
rs1580423432	T>C	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT628575	hsa-miR-8485	HITS-CLIP	23824327
MIRT628574	hsa-miR-3127-5p	HITS-CLIP	23824327
MIRT628575	hsa-miR-8485	HITS-CLIP	23824327
MIRT628574	hsa-miR-3127-5p	HITS-CLIP	23824327
MIRT628575	hsa-miR-8485	HITS-CLIP	23824327
MIRT628574	hsa-miR-3127-5p	HITS-CLIP	23824327
MIRT628575	hsa-miR-8485	HITS-CLIP	23824327
MIRT628574	hsa-miR-3127-5p	HITS-CLIP	23824327
MIRT628575	hsa-miR-8485	HITS-CLIP	23824327
MIRT671275	hsa-miR-211-3p	HITS-CLIP	23824327
MIRT671274	hsa-miR-4270	HITS-CLIP	23824327
MIRT671273	hsa-miR-4441	HITS-CLIP	23824327
MIRT671272	hsa-miR-6754-5p	HITS-CLIP	23824327
MIRT628574	hsa-miR-3127-5p	HITS-CLIP	23824327
MIRT628575	hsa-miR-8485	HITS-CLIP	23824327
MIRT671275	hsa-miR-211-3p	HITS-CLIP	23824327
MIRT671274	hsa-miR-4270	HITS-CLIP	23824327
MIRT671273	hsa-miR-4441	HITS-CLIP	23824327
MIRT671272	hsa-miR-6754-5p	HITS-CLIP	23824327
MIRT628574	hsa-miR-3127-5p	HITS-CLIP	23824327
MIRT628575	hsa-miR-8485	HITS-CLIP	23824327
MIRT628574	hsa-miR-3127-5p	HITS-CLIP	23824327
MIRT628575	hsa-miR-8485	HITS-CLIP	23824327
MIRT628574	hsa-miR-3127-5p	HITS-CLIP	23824327
MIRT628575	hsa-miR-8485	HITS-CLIP	27418678
MIRT628575	hsa-miR-8485	HITS-CLIP	27418678
MIRT628575	hsa-miR-8485	HITS-CLIP	27418678
MIRT628575	hsa-miR-8485	HITS-CLIP	27418678
MIRT628575	hsa-miR-8485	HITS-CLIP	23824327
MIRT628574	hsa-miR-3127-5p	HITS-CLIP	23824327
MIRT628575	hsa-miR-8485	HITS-CLIP	23824327
MIRT628574	hsa-miR-3127-5p	HITS-CLIP	23824327
MIRT628575	hsa-miR-8485	HITS-CLIP	23824327
MIRT628574	hsa-miR-3127-5p	HITS-CLIP	23824327
MIRT628575	hsa-miR-8485	HITS-CLIP	23824327
MIRT628574	hsa-miR-3127-5p	HITS-CLIP	23824327
MIRT628575	hsa-miR-8485	HITS-CLIP	23824327
MIRT671275	hsa-miR-211-3p	HITS-CLIP	23824327
MIRT671274	hsa-miR-4270	HITS-CLIP	23824327
MIRT671273	hsa-miR-4441	HITS-CLIP	23824327
MIRT671272	hsa-miR-6754-5p	HITS-CLIP	23824327
MIRT628574	hsa-miR-3127-5p	HITS-CLIP	23824327
MIRT628575	hsa-miR-8485	HITS-CLIP	23824327
MIRT671275	hsa-miR-211-3p	HITS-CLIP	23824327
MIRT671274	hsa-miR-4270	HITS-CLIP	23824327
MIRT671273	hsa-miR-4441	HITS-CLIP	23824327
MIRT671272	hsa-miR-6754-5p	HITS-CLIP	23824327
MIRT628574	hsa-miR-3127-5p	HITS-CLIP	23824327
MIRT628575	hsa-miR-8485	HITS-CLIP	23824327
MIRT628574	hsa-miR-3127-5p	HITS-CLIP	23824327
MIRT628575	hsa-miR-8485	HITS-CLIP	23824327
MIRT628574	hsa-miR-3127-5p	HITS-CLIP	23824327

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004174	Function	Electron-transferring-flavoprotein dehydrogenase activity	IBA	21873635
GO:0004174	Function	Electron-transferring-flavoprotein dehydrogenase activity	IDA	8306995, 12049629, 14640977
GO:0004174	Function	Electron-transferring-flavoprotein dehydrogenase activity	TAS
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006979	Process	Response to oxidative stress	ISS
GO:0009055	Function	Electron transfer activity	IDA	8306995, 12049629
GO:0016491	Function	Oxidoreductase activity	IDA	14640977
GO:0022900	Process	Electron transport chain	IBA	21873635
GO:0022900	Process	Electron transport chain	IDA	8306995, 12049629
GO:0022904	Process	Respiratory electron transport chain	TAS
GO:0031305	Component	Integral component of mitochondrial inner membrane	IBA	21873635
GO:0031305	Component	Integral component of mitochondrial inner membrane	IDA	8306995
GO:0031966	Component	Mitochondrial membrane	IDA	12049629
GO:0033539	Process	Fatty acid beta-oxidation using acyl-CoA dehydrogenase	IMP	17412732
GO:0043783	Function	Oxidoreductase activity, acting on metal ions, flavin as acceptor	IBA	21873635
GO:0043783	Function	Oxidoreductase activity, acting on metal ions, flavin as acceptor	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0048038	Function	Quinone binding	IDA	14640977
GO:0048039	Function	Ubiquinone binding	IBA	21873635
GO:0048039	Function	Ubiquinone binding	IDA	14640977
GO:0050660	Function	Flavin adenine dinucleotide binding	ISS	17050691
GO:0051539	Function	4 iron, 4 sulfur cluster binding	IBA	21873635
GO:0051539	Function	4 iron, 4 sulfur cluster binding	IDA	18037314

Other IDs

• MIM: 231675
• HGNC: 3483
• e!Ensembl: ENSG00000171503

Protein

• UniProt ID: Q16134
• Protein name: Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial (ETF-QO) (ETF-ubiquinone oxidoreductase) (EC 1.5.5.1) (Electron-transferring-flavoprotein dehydrogenase) (ETF dehydrogenase)
• Protein function: Accepts electrons from ETF and reduces ubiquinone.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01946	Thi4	58 → 121		Family
  PF05187	ETF_QO	512 → 615		Family

• Sequence:

  MLVPLAKLSCLAYQCFHALKIKKNYLPLCATRWSSTSTVPRITTHYTIYPRDKDKRWEGV
  NMERFAEEADVVIVGAGPAGLSAAVRLKQLAVAHEKDIRVCLVEKAAQIGAHTLSGACLD
  PGAFKELFPDWKEKGAPLNTPVTEDRFGILTEKYRIPVPILPGLPMNNHGNYIVRLGHLV
  SWMGEQAEALGVEVYPGYAAAEVLFHDDGSVKGIATNDVGIQKDGAPKATFERGLELHAK
  VTIFAEGCHGHLAKQLYKKFDLRANCEPQTYGIGLKELWVIDEKNWKPGRVDHTVGWPLD
  RHTYGGSFLYHLNEGEPLVALGLVVGLDYQNPYLSPFREFQRWKHHPSIRPTLEGGKRIA
  YGARALNEGGFQSIPKLTFPGGLLIGCSPGFMNVPKIKGTHTAMKSGILAAESIFNQLTS
  ENLQSKTIGLHVTEYEDNLKNSWVWKELYSVRNIRPSCHGVLGVYGGMIYTGIFYWILRG
  MEPWTLKHKGSDFERLKPAKDCTPIEYPKPDGQISFDLLSSVALSGTNHEHDQPAHLTLR
  DDSIPVNRNLSIYDGPEQRFCPAGVYEFVPVEQGDGFRLQINAQNCVHCKTCDIKDPSQN
  INWVVPEGGGGPAYNGM

• Sequence length: 617

Pathways

Reactome:

Respiratory electron transport

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Colorectal cancer	Colorectal Carcinoma	rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800, rs63750198, rs63751109, rs863223312, rs63750710, rs63751615, rs63750206, rs63750781, rs63750899, rs63750691, rs63750217, rs121912965, rs63749939, rs63751194, rs63750693, rs63750540, rs63751221, rs193922370, rs80359596, rs397514632, rs483352909, rs200495564, rs397514684, rs397516436, rs398122386, rs79512956, rs74953290, rs587779001, rs63750677, rs63749837, rs267607816, rs63751715, rs267607819, rs267607815, rs267607822, rs63749906, rs587778883, rs63750472, rs63751012, rs63750715, rs63750580, rs267607706, rs267607709, rs267607710, rs587778894, rs63750749, rs63750483, rs63751015, rs63751153, rs63751094, rs63751118, rs63750316, rs63749981, rs587778906, rs267607821, rs587778908, rs63750020, rs587778909, rs63750713, rs267607825, rs63751592, rs281864936, rs587778913, rs587778914, rs63749795, rs63750855, rs63749916, rs63749923, rs63751472, rs63751689, rs267607832, rs267607837, rs267607836, rs587778923, rs63750028, rs587778928, rs587778929, rs587778930, rs63751277, rs587778933, rs267607842, rs267607843, rs63750192, rs587778934, rs63750193, rs587778937, rs587778938, rs267607845, rs63751244, rs63751393, rs63751460, rs267607849, rs267607853, rs267607856, rs267607850, rs63751657, rs267607854, rs267607852, rs587778942, rs63750309, rs63750587, rs63749863, rs63751486, rs63750016, rs63749868, rs63750375, rs63750035, rs63750604, rs63750386, rs63750150, rs63750486, rs63751428, rs267607866, rs63749986, rs63751594, rs63750152, rs63750850, rs267607867, rs267607868, rs63751632, rs267607871, rs63751892, rs587778956, rs63750469, rs587778958, rs63749792, rs267607875, rs63751255, rs281864938, rs63751202, rs63750726, rs63751310, rs63749900, rs587778964, rs267607879, rs267607878, rs587778966, rs267607883, rs267607887, rs63750061, rs63750663, rs587778968, rs587778971, rs63750809, rs63749867, rs63750864, rs587778972, rs63751275, rs267607718, rs267607722, rs63750769, rs267607717, rs587778973, rs267607716, rs267607720, rs63749995, rs63750859, rs587778975, rs63750114, rs587778976, rs63750603, rs267607889, rs267607723, rs63750561, rs63750499, rs63751642, rs63751022, rs587778981, rs63750971, rs267607898, rs267607906, rs267607903, rs587778989, rs587778992, rs267607894, rs267607901, rs267607892, rs63750437, rs587778997, rs587778998, rs63750005, rs63750641, rs63751421, rs11541859, rs63750266, rs111052004, rs267607726, rs267607727, rs63750453, rs267607734, rs267607735, rs63751665, rs267607736, rs267607732, rs63749816, rs63750539, rs267607739, rs587779006, rs587779008, rs267607745, rs267607742, rs63751595, rs267607743, rs587779010, rs587779012, rs63750057, rs63749818, rs63751124, rs587779014, rs587779015, rs63749820, rs63751302, rs267607750, rs267607751, rs267607749, rs63750891, rs63749959, rs63749804, rs267607765, rs267607760, rs587779021, rs267607759, rs63750515, rs587779023, rs63751021, rs63751480, rs267607772, rs267607773, rs587779024, rs63751653, rs587779027, rs267607767, rs587779029, rs63750706, rs63750385, rs267607774, rs267607778, rs267607780, rs587779034, rs63751711, rs267607784, rs587779035, rs63750823, rs63750822, rs267607787, rs63750303, rs63749839, rs63749827, rs267607789, rs267607790, rs267607791, rs267607786, rs267607771, rs267607795, rs267607794, rs267607788, rs267607799, rs267607801, rs587779045, rs63750034, rs587779047, rs63750216, rs63751707, rs63751598, rs267607803, rs267607777, rs63750144, rs267607805, rs63750547, rs63750489, rs63750993, rs587779054, rs63751259, rs63749926, rs63750796, rs587779058, rs63750745, rs63750582, rs180177084, rs587779866, rs200389141, rs587779950, rs587780104, rs587780183, rs587778536, rs587780683, rs587781554, rs267607712, rs587777627, rs587783057, rs730881734, rs41542214, rs730881273, rs786203456, rs786201990, rs786202767, rs748005072, rs786204317, rs786204318, rs797045117, rs63750549, rs863225383, rs863225384, rs863225373, rs863225376, rs863225377, rs863225378, rs863225379, rs863225380, rs863225381, rs63750059, rs267607823, rs864622457, rs869312767, rs869312753, rs876661059, rs876658915, rs876658923, rs876660860, rs876660822, rs876660458, rs876660214, rs876658657, rs876658247, rs876659226, rs876658821, rs876660589, rs876659068, rs876659681, rs876659608, rs878853794, rs878853778, rs878853780, rs878853785, rs886039423, rs886039424, rs1057517543, rs1057517541, rs756843954, rs1057517617, rs1057517558, rs1057519256, rs1060500689, rs764085979, rs1060500707, rs1060500699, rs1060500706, rs1060500703, rs1064795341, rs1064793607, rs1064794348, rs1064795441, rs1064794373, rs1064793172, rs1064794122, rs1064795515, rs1064794331, rs63750978, rs1114167435, rs1553641362, rs63751448, rs1553648029, rs1553648058, rs587778903, rs1553653237, rs1553664353, rs267607744, rs1553647995, rs1553648047, rs1553653084, rs1553663750, rs1553664436, rs1553488015, rs1553637293, rs63750310, rs63750443, rs63751596, rs1553646681, rs550890395, rs1064796057, rs1553642079, rs1553648023, rs587782087, rs746536721, rs1553653037, rs1248251121, rs1553646602, rs1434898623, rs1553665683, rs1553648068, rs1553645331, rs1553644123, rs1553658246, rs1553651299, rs1553648149, rs1553663159, rs1302248679, rs1553664119, rs1553658009, rs1553665977, rs1416171624, rs1553663834, rs1553664617, rs1553664702, rs1553647969, rs1553648040, rs1437454428, rs1553641273, rs63751101, rs1553646764, rs1553648225, rs1554082118, rs1553648201, rs1553638868, rs1553665866, rs376736188, rs1553642707, rs1553645226, rs1553652883, rs63751435, rs1553653115, rs1553653195, rs63750300, rs1553662622, rs1553658104, rs1553648220, rs1559544064, rs63750584, rs267608083, rs1559551570, rs1559575107, rs1559553501, rs1565986506, rs1559524405, rs1559553492, rs1559554339, rs1559588540, rs1559558071, rs761329565, rs1559521039, rs1559574795, rs1567221417, rs1559578422, rs1481129490, rs1570714352, rs779783209, rs1575376830, rs1575469070, rs1575537843, rs1575620443, rs1575621506, rs587779022, rs1575414904, rs1575449093, rs1575469505, rs1575536254, rs1575537933, rs1575632112, rs1575639851, rs1575441094, rs1575449402, rs267607831, rs2081922847, rs2083403132, rs2085415927, rs2085469647, rs2043913790, rs147542208
Glutaric acidemia	GLUTARIC ACIDEMIA IIC	rs104894677, rs2123572141, rs387907170, rs377656387	24816252, 25655951, 27604308
Glutaric aciduria	Glutaric Aciduria IIA, Glutaric Aciduria IIB	rs121434366, rs121434367, rs121434371, rs121434368, rs121434369, rs121434370, rs952356983, rs121434372, rs121434373, rs398123195, rs147611168, rs142967670, rs786204639, rs755586631, rs139851890, rs777201305, rs786204627, rs766518430, rs768925619, rs150938052, rs786204626, rs776082304, rs786205862, rs786205861, rs141437721, rs372983141, rs199999619, rs149120354, rs869025300, rs869025299, rs752127949, rs878853154, rs878853153, rs878853244, rs1057516939, rs1057516522, rs1006150317, rs1057517088, rs1057516521, rs898043081, rs768836114, rs752334462, rs1057516855, rs1057516715, rs749452002, rs1057516899, rs1057516344, rs761491320, rs1057517410, rs1057517407, rs778153326, rs754002357, rs758503371, rs200639270, rs779315456, rs566417795, rs1131692030, rs761765983, rs781477694, rs775606471, rs754312389, rs1025558859, rs748275416, rs1555749434, rs775103982, rs1555750535, rs745852738, rs1176799813, rs1405935475, rs751583656, rs1230368107, rs1197426645, rs1555749239, rs1555749369, rs758137643, rs1555750542, rs794726972, rs764608975, rs1555751109, rs1555751995, rs1273164833, rs1555749853, rs964724051, rs933624223, rs1555750580, rs752234195, rs1555751089, rs1008834111, rs1260580183, rs1568429137, rs1203022386, rs771924230, rs1568429257, rs1568427678, rs576948027, rs1599618968, rs1599619080, rs772654647, rs1599619180, rs1599616676, rs1970564149, rs776758971, rs1970604182, rs1970608600, rs1173575355, rs1970675055, rs367699815, rs1864390545, rs1257292639, rs1970719648
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
Multiple acyl-coa dehydrogenase deficiency	Multiple Acyl Coenzyme A Dehydrogenase Deficiency, Multiple acyl-CoA dehydrogenase deficiency, mild type, Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type	rs119458969, rs119458970, rs119458971, rs121964953, rs2147483647, rs121964954, rs121964955, rs121964956, rs104894677, rs387907170, rs377656387, rs398124151, rs398124152, rs727503919, rs796051964, rs377686388, rs796051961, rs796051962, rs796051965, rs796051963, rs796051959, rs558005496, rs796051960, rs863224869, rs876661314, rs876661313, rs876661315, rs876661312, rs876661310, rs876661311, rs876661309, rs771466122, rs878853006, rs878853082, rs767795266, rs761669036, rs199763682, rs751821289, rs200920510, rs549150456, rs769976586, rs779896449, rs369711837, rs746598421, rs141407224, rs1298299792, rs1466787789, rs917285990, rs767046886, rs773668457, rs1172887273, rs1561251640, rs767249944, rs1561247874, rs199899494, rs780015493, rs779253471, rs1580422708, rs1580425904, rs1596218695, rs754202690, rs1580415323, rs1475984278, rs766066977, rs199979286, rs371493232, rs1580406119, rs1580423432, rs1469053638, rs1773877563, rs763541530, rs1235904433, rs1774344831, rs1774519872, rs1174882036, rs1774616485, rs1774630121, rs1774633192, rs1209473816, rs1774518252, rs2039698086, rs1384386872	27000805, 23727839, 17412732, 24522293, 26403312, 12359134, 17584774, 12815589, 20370797, 16510302, 22580358, 23628458, 2989828, 22664151, 15669683, 24357026, 3620453, 19249206, 27270537, 22611163, 19265687, 29249369, 22013910, 23785301, 16527485, 20020044, 21088898, 21907580, 25929793, 27935074, 24123825, 27038534, 24190796, 18289905
Obesity	Obesity	rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs193922650, rs193922685, rs193922687, rs751160202, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829	20882379
Polycystic kidney disease	Polycystic Kidney Diseases	rs119103233, rs886041027, rs886041028, rs137852944, rs28937907, rs137852947, rs137852948, rs137852949, rs137852950, rs267607048, rs2147483647, rs199476094, rs1567154953, rs199476095, rs199476096, rs199476097, rs199476098, rs1218054241, rs1567192790, rs1567204631, rs199476100, rs199476101, rs199476102, rs1555728968, rs774233325, rs757957327, rs121918519, rs121918520, rs1555725707, rs121918039, rs121918040, rs121918041, rs1560598042, rs121918042, rs757757289, rs121918043, rs1560621750, rs376586707, rs398122932, rs398123308, rs398124475, rs398124476, rs398124478, rs398124480, rs398124483, rs398124484, rs398124486, rs398124487, rs398124495, rs398124496, rs398124498, rs398124500, rs398124501, rs398124502, rs398124503, rs724159823, rs141178995, rs724159826, rs368263958, rs727504089, rs727504096, rs746838237, rs727504087, rs786204241, rs200391019, rs746471701, rs771623148, rs148617572, rs786204688, rs181208607, rs200179145, rs142107837, rs786204707, rs745770404, rs786204696, rs749293235, rs754392766, rs786204749, rs786204588, rs148812376, rs752868449, rs773136605, rs797044713, rs794727566, rs794727572, rs771180444, rs794727680, rs797044745, rs794727759, rs781368899, rs796052133, rs797045101, rs797044902, rs863224528, rs751527253, rs869312944, rs869312977, rs869312978, rs886039888, rs886040959, rs58606740, rs770461067, rs886041836, rs886042676, rs748365248, rs760222236, rs886061616, rs886061619, rs886061623, rs1057516041, rs1057516201, rs1057516202, rs1057516206, rs1057517324, rs199839578, rs1057517047, rs1057516652, rs1057516345, rs1057517326, rs1057516835, rs1057517249, rs760260903, rs1057517071, rs757099749, rs1057517357, rs751754608, rs1057516577, rs1057516445, rs1057516413, rs1057517387, rs1057517244, rs749768205, rs1057516775, rs1057516490, rs1057516607, rs1057516690, rs1057517078, rs1057516751, rs1057516588, rs1057516596, rs1057516221, rs1057516441, rs760921148, rs1057516706, rs1057517378, rs1057516804, rs1057516407, rs777999875, rs774759689, rs1057516692, rs1057516885, rs267601070, rs1057516626, rs1057516263, rs1057516691, rs1057516382, rs778537772, rs1057516594, rs1057517273, rs1057516762, rs1057516982, rs1057516922, rs774250209, rs1057516872, rs1057516283, rs1057517394, rs1057516562, rs1057516709, rs1057517158, rs1057516608, rs1057516975, rs1057517178, rs1057516768, rs757521428, rs1057516697, rs1057517270, rs773991918, rs1057517220, rs1057518604, rs1057518906, rs1057518797, rs1057518969, rs1057518959, rs1057518897, rs1057518783, rs566014072, rs1057518899, rs1057518923, rs180675584, rs1057524563, rs200001068, rs1553924174, rs1060499718, rs369825780, rs1060499704, rs1060499702, rs539793378, rs1060499699, rs1060503526, rs751084512, rs369925690, rs1060501356, rs1064796287, rs1064794206, rs1064797205, rs1114167370, rs1114167366, rs1555452653, rs1020621286, rs1131692280, rs1135401753, rs555349004, rs1135402754, rs1135402755, rs1135402756, rs757946548, rs1555455453, rs1555456661, rs1553924173, rs1553925470, rs1210846081, rs1554218506, rs1045675831, rs1555444334, rs766551411, rs1555445192, rs1325300747, rs777460677, rs1555450424, rs1555451093, rs1555451280, rs1222094213, rs1555453360, rs752114168, rs1555453872, rs1555454145, rs1555454411, rs1555454512, rs1555454604, rs1555455998, rs747483368, rs750798165, rs1553928730, rs1554282540, rs1555446053, rs745912756, rs1555447196, rs1453883641, rs1555454886, rs1555457482, rs1553923513, rs867092741, rs1555446576, rs1555454353, rs1555456139, rs1555457446, rs1555458032, rs1555462463, rs1555450968, rs1555444715, rs1261505725, rs1232369409, rs1553925453, rs1553926929, rs1553927783, rs755226061, rs1555444985, rs1161012209, rs1555445274, rs1555445771, rs1555446411, rs1555451143, rs1555451430, rs1555453395, rs1555455457, rs1555456208, rs1555459108, rs1555462438, rs1555445999, rs1555457807, rs1553927436, rs1555454373, rs1553926509, rs1553926905, rs1187336837, rs1553927080, rs1554194574, rs1344820986, rs1246693314, rs1554167673, rs1554183398, rs1554183559, rs1554144359, rs1555444249, rs1555450475, rs1555448106, rs1555446033, rs1555454915, rs1286585831, rs780009030, rs201082169, rs1555728990, rs1554204054, rs1554212326, rs910497248, rs1554198072, rs1555453207, rs1554223950, rs1554220431, rs1555454460, rs367678592, rs1555447011, rs1553925459, rs1553925467, rs1554236269, rs1554263076, rs1555445585, rs1555446582, rs1555446637, rs1555447057, rs1420757773, rs1555450920, rs762003393, rs1555454075, rs1555454606, rs1555455797, rs1555456744, rs1401015526, rs1555459001, rs1555459084, rs1282205691, rs1553927823, rs777269070, rs369678636, rs1555454739, rs1302726543, rs1554198780, rs758732107, rs747322128, rs1554200780, rs1358948221, rs1555452400, rs144193508, rs1488844530, rs1554169567, rs1554174796, rs1554176343, rs1554183235, rs1554183240, rs1554216538, rs770068023, rs1554221465, rs1554232224, rs1334913120, rs1554191298, rs1554194504, rs770522674, rs1554197152, rs868673401, rs1554210085, rs1554213853, rs1554227278, rs1554228601, rs1554183012, rs1554183763, rs765209037, rs1554217691, rs1554218666, rs759851475, rs1554174903, rs1554176517, rs1554183204, rs1554243821, rs1554289495, rs1554183320, rs1554133736, rs1554218519, rs1554218926, rs1405067373, rs1351918391, rs1554199349, rs1160209891, rs1554183446, rs1554183480, rs1554183588, rs1554208257, rs1554209188, rs1554216499, rs1554271235, rs1554223403, rs1554282419, rs1554224707, rs1554227162, rs1554216571, rs1554229312, rs1554299291, rs376987651, rs1340926191, rs1554132790, rs1554194511, rs1554270880, rs1554198717, rs1554199226, rs1554200778, rs1240212722, rs776060304, rs747895516, rs1554134080, rs1554211308, rs758352210, rs1554212403, rs748540413, rs1554207834, rs750730042, rs1554219449, rs753492974, rs1554222939, rs1554219429, rs1554222508, rs775511838, rs1555452849, rs1554162725, rs1554227215, rs1567155145, rs1567159074, rs1567177684, rs1567200516, rs1567173924, rs1324209174, rs1485297878, rs1560626561, rs1264176877, rs2432403, rs1560626499, rs1567176750, rs1567180640, rs752024467, rs1567204146, rs1567153758, rs1567210630, rs1352019198, rs555242193, rs1567195059, rs1371793191, rs1616940, rs1567212531, rs1567186165, rs749004212, rs1167476946, rs1567215646, rs755496450, rs1567195285, rs1567169638, rs1391596181, rs1561920869, rs764696718, rs146649803, rs1560592253, rs1561921358, rs775638588, rs1560632930, rs1567153194, rs1197421698, rs1567166045, rs1567174997, rs1567180636, rs1567186946, rs1567191601, rs1567191609, rs1567192229, rs1567200117, rs1567202750, rs778028967, rs1567210080, rs775710328, rs750723025, rs1567191179, rs1567219527, rs1562221540, rs769559267, rs868562051, rs752305132, rs760426769, rs1562581286, rs1560608729, rs1560620277, rs1560628245, rs1567146946, rs1567165997, rs750780241, rs1567202350, rs1567206904, rs1567216323, rs1567219111, rs1377414968, rs1578144898, rs778235410, rs1181168635, rs1567155179, rs1361283193, rs1364976535, rs1567182193, rs1567184366, rs1567187445, rs1567191534, rs1567196314, rs1567201083, rs774453006, rs144513458, rs1567192286, rs1567190244, rs773129632, rs1560617356, rs1273202231, rs1567196052, rs1325403863, rs1592341222, rs199568593, rs765390756, rs780182068, rs148300854, rs765652131, rs1562140771, rs779050294, rs557437764, rs1485161784, rs752327566, rs1578130597, rs1578135829, rs1582469538, rs1582470309, rs1596472276, rs1596473420, rs1596485727, rs200001471, rs1596557533, rs1205064584, rs1355372474, rs780351760, rs1578130676, rs1578139269, rs200432861, rs1581808463, rs1581827172, rs367707903, rs764431330, rs1596512729, rs1596520985, rs1596522636, rs1596523677, rs757768731, rs750913623, rs1596557065, rs1596558405, rs1238351274, rs1567200098, rs1596560540, rs1596575646, rs1596591955, rs1583202788, rs753471298, rs1596536505, rs112915100, rs1581812192, rs1596525695, rs1596551138, rs1578135823, rs1578111620, rs1334145215, rs1582436832, rs1242089464, rs775628123, rs1583013487, rs1583053996, rs1583054534, rs1581727260, rs1581806935, rs767737392, rs1581956689, rs1278235097, rs754038777, rs1582064844, rs1295732689, rs1596536546, rs145877597, rs1581910835, rs1203260419, rs1581999471, rs1596475487, rs747638599, rs1596557266, rs34495017, rs1596561773, rs1596574774, rs1174034883, rs1596580483, rs794727756, rs1578111345, rs1578135870, rs1276594505, rs1596481464, rs1596501760, rs377029031, rs138871063, rs1596548114, rs1596556800, rs202110519, rs555703777, rs1596582948, rs1582441668, rs1596482597, rs1578111778, rs1578118330, rs1578129049, rs886041114, rs1578144873, rs1578147448, rs756212622, rs1596480112, rs1327414405, rs1596488823, rs1596503384, rs1596514027, rs1596527579, rs1555453244, rs1312494071, rs1596553527, rs1596556375, rs1596557742, rs145263744, rs1596563657, rs1596588978, rs1581910796, rs754626014, rs1183281205, rs752889346, rs765020336, rs1582479341, rs779168950, rs746625317, rs1582925274, rs1583203255, rs1581726525, rs1581763359, rs908880474, rs1464962854, rs1226122841, rs1581810497, rs1581974348, rs780898021, rs1581992845, rs1582002018, rs1582013246, rs1582053820, rs1582085757, rs1350620976, rs1582154630, rs1596574987, rs1578111378, rs1578141765, rs1446729264, rs764447736, rs1578118371, rs1578142941, rs1596485991, rs1596514864, rs1596527744, rs1596566156, rs1416011785, rs747170980, rs1768958447, rs765934021, rs1772510920, rs1785437689, rs1790936941, rs1473182306, rs1436814142, rs1782064827, rs1782629977, rs774290802, rs1313206550, rs779028446, rs1433540169, rs1802073525, rs1802504786, rs1802523270, rs1805754682, rs776845008, rs1809305398, rs1810924520, rs1781631365, rs1803834984, rs774050795, rs2092203712, rs1452322332, rs753261451, rs2092939625, rs1726231891, rs1726245372, rs1726673986, rs1727326556, rs1727420867, rs1727421192, rs1727790591, rs776718970, rs1720855394, rs2091395464, rs2091400717, rs2091472604, rs2091483332, rs1555445229, rs2091600536, rs2091614437, rs2091619053, rs2091620763, rs2091668243, rs2092026801, rs2092206577, rs779516086, rs151308544, rs2092301272, rs778979740, rs2092333316, rs2092341848, rs2092343570, rs2092347343, rs765688834, rs546354639, rs1485307916, rs762911981, rs2092458566, rs2092471431, rs2047525622, rs2092479999, rs2092485909, rs2092503169, rs2092503653, rs755084885, rs1231492796, rs2092598385, rs2092604612, rs2092615974, rs2092660457, rs2092665584, rs2092667308, rs2092672595, rs2092679105, rs2092683596, rs2092941253, rs2091453268, rs2091612821, rs2092263886, rs2092614697, rs2092646077, rs2092684358

Unknown
Disease term	Disease name	Evidence	References	Source
Pulmonary hypoplasia	Congenital hypoplasia of lung			ClinVar
Metabolic diseases	Metabolic Diseases		17050691	ClinVar
Multiple Acyl-CoA Dehydrogenase Deficiency	multiple acyl-CoA dehydrogenase deficiency			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
2 Hydroxyglutaricaciduria	Associate	31349060
6 pyruvoyl tetrahydropterin synthase deficiency	Associate	30626930
Acidosis	Associate	34573316
Carnitine Palmitoyltransferase II Deficiency Infantile	Associate	34764427
Charcot Marie Tooth Disease	Associate	38549004
Cholelithiasis	Associate	39366640
Coenzyme Q10 Deficiency	Associate	17412732, 19208393
Colorectal Neoplasms	Associate	34253750
Death	Associate	36064718
Distal myopathy Nonaka type	Associate	34440319
Dyspnea	Associate	29581464
Hyperammonemia	Associate	34573316
Hypersensitivity Delayed	Associate	29581464
Hypesthesia	Associate	31785094
Hypoglycemia	Associate	34573316
Immunologic Deficiency Syndromes	Associate	34764427
Liver Failure	Associate	34573316
Mitral Valve Insufficiency	Associate	27250500
Multiple Acyl Coenzyme A Dehydrogenase Deficiency	Associate	17412732, 19208393, 19249206, 21088898, 22013910, 22041377, 25200064, 28950901, 29336361, 29615056, 30508893, 30587156, 30709034, 31058673, 31852447, 32393189, 33000234, 33131365, 34066864, 34440319, 34573316, 34704421, 34764427, 35734957, 36064718, 36162333, 36326420, 37019029, 38221620, 39273584, 9334218
Multiple Acyl Coenzyme A Dehydrogenase Deficiency	Inhibit	32804429
Muscle Weakness	Associate	21088898, 30681493
Muscular Diseases	Associate	17412732, 19249206
Myalgia	Associate	31785094
Myopathy with Abnormal Lipid Metabolism	Associate	27270537, 29615056, 30508893, 31306230, 31785094, 31852447, 33131365, 36326420
Myopathy with Lactic Acidosis Hereditary	Associate	30681493
Nausea	Associate	34573316
Primary hyperoxaluria type 1	Associate	34066864
Respiratory Insufficiency	Associate	31058673
Rhabdomyolysis	Associate	31058673
Stress Disorders Post Traumatic	Associate	38212778
Urinary Bladder Neoplasms	Associate	25907251, 34589136
Urinary Bladder Neurogenic	Associate	31785094
Vomiting	Associate	21088898