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
GO:0004174	Function	Electron-transferring-flavoprotein dehydrogenase activity	IDA	8306995, 12049629, 14640977
GO:0004174	Function	Electron-transferring-flavoprotein dehydrogenase activity	IEA
GO:0004174	Function	Electron-transferring-flavoprotein dehydrogenase activity	TAS
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005654	Component	Nucleoplasm	IDA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IBA
GO:0005743	Component	Mitochondrial inner membrane	IDA	8306995
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0005829	Component	Cytosol	IDA
GO:0006979	Process	Response to oxidative stress	IEA
GO:0006979	Process	Response to oxidative stress	ISS
GO:0009055	Function	Electron transfer activity	IDA	8306995, 12049629
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IDA	14640977
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0022900	Process	Electron transport chain	IBA
GO:0022900	Process	Electron transport chain	IDA	8306995, 12049629
GO:0022900	Process	Electron transport chain	IEA
GO:0022904	Process	Respiratory electron transport chain	TAS
GO:0031966	Component	Mitochondrial membrane	IDA	12049629
GO:0033539	Process	Fatty acid beta-oxidation using acyl-CoA dehydrogenase	IMP	17412732
GO:0046872	Function	Metal ion binding	IEA
GO:0048038	Function	Quinone binding	IDA	14640977
GO:0048039	Function	Ubiquinone binding	IDA	14640977
GO:0050660	Function	Flavin adenine dinucleotide binding	ISS	17050691
GO:0051536	Function	Iron-sulfur cluster binding	IEA
GO:0051539	Function	4 iron, 4 sulfur cluster binding	IDA	18037314
GO:0051539	Function	4 iron, 4 sulfur cluster binding	IEA

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

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abnormality of metabolism/homeostasis	Likely pathogenic; Pathogenic	rs2150312322, rs773668457	RCV001814448 RCV001814220	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Acyl-CoA dehydrogenase deficiency, glutaric acidemia type II	Likely pathogenic; Pathogenic	rs377656387	RCV001250164	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ETFDH-related disorder	Likely pathogenic; Pathogenic	rs767238539, rs796051964, rs796051962, rs761669036, rs1774704214, rs2479076294, rs369711837, rs773668457	RCV003408283 RCV004748625 RCV003398924 RCV004748682 RCV003397028 RCV003397362 RCV003419931 RCV004748909	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glutaric acidemia IIc	Pathogenic; Likely pathogenic	rs121964953, rs2150304327, rs121964954, rs121964955, rs121964956, rs746598421, rs371493232	RCV000012806 RCV000012807 RCV000012808 RCV000012809 RCV000012810 RCV000024282 RCV004798842 RCV002255101	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glutaric acidemia iic, late-onset	Likely pathogenic; Pathogenic	rs1482632936, rs2150311734, rs387907170, rs377656387	RCV001533540 RCV001533541 RCV000024305 RCV000024306	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glutaric acidemia type 2C	Pathogenic; Likely pathogenic	rs1200031596, rs760251231, rs2126314844, rs537038850, rs377686388, rs761669036, rs1774704214, rs776853600, rs2479087993, rs121964955, rs387907170, rs377656387, rs369711837, rs746598421, rs767046886, rs767249944, rs371493232, rs1469053638, rs1774616485, rs1485038306	RCV001831378 RCV005614742 RCV005614698 RCV001831952 RCV001826924 RCV001833298 RCV005616635 RCV005616641 RCV005618361 RCV001826506 RCV001831605 RCV001831606 RCV001829570 RCV001834766 RCV001835015 RCV001830667 RCV001832301 RCV001827126 RCV001827320 RCV001833902	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Multiple acyl-CoA dehydrogenase deficiency	Likely pathogenic; Pathogenic	rs398124151, rs398124152, rs1774698674, rs2150306282, rs2150306551, rs1426349276, rs2150312193, rs768181815, rs2126321079, rs2150305297, rs1231802914, rs1369800014, rs2126309189, rs1200031596, rs2126309523, rs751394068, rs2126316669, rs781498366, rs1482632936, rs1480647123, rs769047475, rs2150306625, rs2150304426, rs771393519, rs2150305310, rs1430630684, rs2126316699, rs1225042876, rs1241072742, rs2150312299, rs2126316486, rs534388496, rs2150304339, rs2126321188, rs2150305196, rs187248590, rs1373597092, rs776320810, rs2150312312, rs751821289, rs2150312280, rs2126316885, rs760251231, rs2126316783, rs2150304416, rs1773884764, rs764164607, rs549150456, rs1580422659, rs2150305321, rs1169197181, rs2126315337, rs2126315444, rs1580396712, rs989125087, rs1165102742, rs755907131, rs376630579, rs1774695889, rs121964956, rs745714733, rs749085653, rs2150312228, rs2126316172, rs2150305273, rs1773829495, rs2126314844, rs2150304342, rs757063739, rs182913453, rs748289922, rs2126321296, rs2476741684, rs2479121069, rs537038850, rs727503919, rs767238539, rs772351035, rs1774704452, rs764060500, rs966234208, rs1774519367, rs796051964, rs1340862175, rs1773952432, rs755214552, rs1233725939, rs186023896, rs2476741877, rs377686388, rs796051961, rs796051962, rs796051965, rs796051963, rs796051959, rs558005496, rs796051960, rs2476735862, rs150832878, rs1404406222, rs2476721678, rs2476731972, rs2479086220, rs1473188524, rs2476741089, rs2479117770, rs1466275942, rs863224869, rs2476735533, rs2476721217, rs878853006, rs878853082, rs767795266, rs2476734760, rs761669036, rs121964953, rs2150304327, rs121964954, rs121964955, rs1774704214, rs2479111341, rs2476733074, rs2476721663, rs2476720848, rs2479080755, rs2476741210, rs2476733094, rs781531865, rs2479110961, rs2476735987, rs2479110964, rs2476732949, rs2479120830, rs2479076127, rs2476741563, rs2479080250, rs2479080515, rs1292908960, rs776853600, rs2479086062, rs2476732632, rs2476736065, rs2479088227, rs2479076416, rs2476733100, rs2476736046, rs2479076087, rs1232214003, rs2479111562, rs2479111050, rs2479057315, rs2476721416, rs2479111092, rs2476732191, rs2479120869, rs2476741902, rs2479080854, rs2479080873, rs1291408658, rs1774703982, rs761008371, rs1333454413, rs2479100223, rs1374116117, rs2479075665, rs2479086315, rs770051042, rs777646291, rs2479080223, rs2479080929, rs1773973345, rs745693501, rs2479080011, rs1486733753, rs2479086057, rs2476732154, rs2476721648, rs760806279, rs1561246744, rs765063539, rs2476741382, rs2479116902, rs2476721592, rs1773974277, rs1773827322, rs2479087993, rs2476732226, rs2479080359, rs1281406250, rs2476734756, rs1244950045, rs2479117006, rs387907170, rs377656387, rs200920510, rs779896449, rs369711837, rs746598421, rs141407224, rs1466787789, rs917285990, rs767046886, rs773668457, rs1172887273, rs1561251640, rs767249944, rs1561247874, rs199899494, rs780015493, rs779253471, rs1580422708, rs1580425904, rs1580415323, rs371493232, rs1580406119, rs1580423432, rs1469053638, rs1773877563, rs763541530, rs1235904433, rs1774344831, rs1774519872, rs1174882036, rs1774616485, rs1774630121, rs1774633192, rs1774518252, rs1441657866, rs1774610957, rs1444488601, rs1485038306, rs1773954366, rs1773880008, rs1773956317	RCV000173803 RCV000174102 RCV001333248 RCV001379754 RCV001377173 RCV001377216 RCV001376776 RCV001379882 RCV001377485 RCV001390882 RCV001385871 RCV001388893 RCV001383328 RCV001380775 RCV001385003 RCV001380776 RCV001385872 RCV001380777 RCV001882597 RCV001553623 RCV001698889 RCV001698748 RCV002032696 RCV001783210 RCV001783211 RCV001836609 RCV001829273 RCV001988925 RCV002034132 RCV001989535 RCV002013568 RCV001963736 RCV001881500 RCV002036726 RCV001928266 RCV002028365 RCV001994257 RCV002000652 RCV002000660 RCV001999050 RCV001951856 RCV001938288 RCV001970838 RCV001902412 RCV001972651 RCV001995333 RCV001976471 RCV002049210 RCV001971135 RCV001971199 RCV001919576 RCV002035300 RCV002007423 RCV002035269 RCV001993214 RCV001994364 RCV001980762 RCV001941612 RCV002017019 RCV001946803 RCV001951158 RCV001946884 RCV001970056 RCV001901387 RCV001912048 RCV001951472 RCV002006312 RCV001914838 RCV001965033 RCV001928034 RCV002027116 RCV002038367 RCV002038411 RCV002283362 RCV002283899 RCV000392257 RCV001850092 RCV003103104 RCV002471536 RCV003089794 RCV003079056 RCV002582381 RCV002603372 RCV000175781 RCV002651856 RCV002651857 RCV002651858 RCV002651860 RCV002664352 RCV002664362 RCV000180601 RCV005031723 RCV000698712 RCV005089931 RCV000809835 RCV003474943 RCV002478652 RCV001053110 RCV003474942 RCV002760181 RCV002750611 RCV002750721 RCV002801684 RCV002828184 RCV002851115 RCV002830247 RCV002870845 RCV002913618 RCV002928699 RCV001381020 RCV003026766 RCV003043185 RCV003624410 RCV002519760 RCV000543124 RCV003145011 RCV001069003 RCV002512993 RCV003473080 RCV000553294 RCV002512994 RCV000721976 RCV003388383 RCV003476361 RCV003476363 RCV003476364 RCV003476366 RCV003476367 RCV003476368 RCV003476369 RCV003476370 RCV003476371 RCV003476372 RCV003476373 RCV003476374 RCV003476375 RCV003476376 RCV003476377 RCV003476378 RCV003476379 RCV003476380 RCV003476381 RCV003476382 RCV003476383 RCV003476384 RCV003476385 RCV003476386 RCV003476387 RCV003476388 RCV003476389 RCV003476390 RCV003476391 RCV003476392 RCV003476393 RCV003476394 RCV003476395 RCV003476396 RCV003476397 RCV003476398 RCV003467945 RCV003467946 RCV003460029 RCV003512300 RCV003512895 RCV003513595 RCV003513596 RCV003513578 RCV003511555 RCV003511612 RCV003512646 RCV003512748 RCV003512665 RCV003624575 RCV003624590 RCV003624777 RCV003624807 RCV003624697 RCV003625320 RCV003625322 RCV003625323 RCV003625357 RCV003625703 RCV003625705 RCV003625544 RCV003625882 RCV003625963 RCV003624041 RCV003863546 RCV003881875 RCV004576404 RCV004576406 RCV004576407 RCV004576408 RCV004576409 RCV004576410 RCV004576411 RCV004576412 RCV004576413 RCV004576414 RCV004576415 RCV004576416 RCV004576417 RCV000763116 RCV001216553 RCV000578325 RCV000634896 RCV000818859 RCV000987487 RCV000763115 RCV000539322 RCV000554634 RCV000558221 RCV000625637 RCV000634895 RCV000634893 RCV000699705 RCV000699613 RCV001868918 RCV000778725 RCV000778726 RCV000813251 RCV000824611 RCV000799942 RCV000806807 RCV000796466 RCV000811062 RCV000987486 RCV000987488 RCV000987491 RCV000987492 RCV001063451 RCV001051962 RCV001068689 RCV001035118 RCV001047294 RCV001069265 RCV001050937 RCV001035116 RCV001050404 RCV001040654 RCV001223416 RCV001204189 RCV001213999 RCV001219278 RCV001233109 RCV001248026 RCV001236719	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Other rare neuromuscular disorders	Likely pathogenic; Pathogenic	rs398124151	RCV005865231	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Squamous cell lung carcinoma	Likely pathogenic; Pathogenic	rs2479117770	RCV005869943	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal spinal muscular atrophy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Familial cancer of breast	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity; -	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic cardiomyopathy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopathy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
OBESITY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Carnitine palmitoyl transferase 2 deficiency	Carnitine palmitoyl transferase deficiency	BEFREE	20370797, 28083701		★☆☆☆☆ Found in Text Mining only
Carnitine Palmitoyltransferase II Deficiency Infantile	Carnitine palmitoyltransferase deficiency	Pubtator	34764427	Associate	★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholecystolithiasis	Pubtator	39366640	Associate	★☆☆☆☆ Found in Text Mining only
COENZYME Q10 DEFICIENCY	Coenzyme Q10 Deficiency	BEFREE	17412732		★☆☆☆☆ Found in Text Mining only
Coenzyme Q10 Deficiency	Coenzyme q10 deficiency	Pubtator	17412732, 19208393	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34253750	Associate	★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Distal myopathy Nonaka type	Distal myopathy	Pubtator	34440319	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	HPO_DG			★☆☆☆☆ Found in Text Mining only
GLUTARIC ACIDEMIA IIC	Glutaric acidemia	GENOMICS_ENGLAND_DG	24816252, 25655951, 27604308		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
GLUTARIC ACIDEMIA IIC	Glutaric acidemia	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glutaric Aciduria IIA	Glutaric Aciduria	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Glutaric Aciduria IIB	Glutaric Aciduria	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Hepatic periportal necrosis	Hepatic periportal necrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperammonemia	Hyperammonemia	Pubtator	34573316	Associate	★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Hypersensitivity	Pubtator	29581464	Associate	★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	17977044		★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	Pubtator	34573316	Associate	★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoglycemic coma	Hypoglycemic coma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	31704152		★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	34573316	Associate	★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	CTD_human_DG	17050691		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Diseases	Metabolic Diseases	BEFREE	17412732, 19249206		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Acyl Coenzyme A Dehydrogenase Deficiency	Multiple Acyl-CoA Dehydrogenase Deficiency	CLINVAR_DG	12359134, 12815589, 16510302, 17412732, 17584774, 18289905, 19249206, 21088898, 21907580, 22013910, 22611163, 22664151, 23628458, 23727839, 23785301, 24190796, 24357026, 24522293, 26403312, 27000805, 27038534, 27270537, 27935074		★☆☆☆☆ Found in Text Mining only
Multiple Acyl Coenzyme A Dehydrogenase Deficiency	Multiple Acyl-CoA Dehydrogenase Deficiency	UNIPROT_DG	12359134, 12815589, 16527485, 17412732, 19249206, 20370797		★☆☆☆☆ Found in Text Mining only
Multiple Acyl Coenzyme A Dehydrogenase Deficiency	Multiple Acyl-CoA Dehydrogenase Deficiency	CLINGEN_DG	12815589, 15669683, 17584774, 19249206, 19265687, 20020044, 22013910, 22580358, 22611163, 24123825, 29249369, 2989828, 3620453		★☆☆☆☆ Found in Text Mining only
Multiple Acyl Coenzyme A Dehydrogenase Deficiency	Multiple Acyl-CoA Dehydrogenase Deficiency	BEFREE	17412732, 17977044, 19249206, 19265687, 19758981, 19783111, 20020044, 20138856, 20837308, 21046290, 21596162, 21616504, 22013910, 22190129, 23785301, 23893693, 24357026, 25200064, 25913573, 27000805, 27935074, 28914566, 28950901, 29249369, 29615056, 30424791, 30508893, 30587156, 30709034, 31136308, 31392824, 31418342		★☆☆☆☆ Found in Text Mining only
Multiple Acyl Coenzyme A Dehydrogenase Deficiency	Multiple Acyl-CoA Dehydrogenase Deficiency	GENOMICS_ENGLAND_DG	17412732, 25929793		★☆☆☆☆ Found in Text Mining only
Multiple Acyl Coenzyme A Dehydrogenase Deficiency	Multiple Acyl-CoA Dehydrogenase Deficiency	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Multiple acyl-CoA dehydrogenase deficiency, mild type	Multiple Acyl-CoA Dehydrogenase Deficiency	Orphanet			★☆☆☆☆ Found in Text Mining only
Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type	Multiple Acyl-CoA Dehydrogenase Deficiency	Orphanet			★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	19758981, 21844807, 23628458		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Myopathy with Abnormal Lipid Metabolism	Myopathy With Abnormal Lipid Metabolism	BEFREE	19758981, 20370797, 21046290, 27000805, 27270537		★☆☆☆☆ Found in Text Mining only
Nausea	Nausea	Pubtator	34573316	Associate	★☆☆☆☆ Found in Text Mining only
Neutral Lipid Storage Disease with Myopathy	Neutral lipid storage myopathy	BEFREE	19208393		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	CTD_human_DG	20882379		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pachygyria	Pachygyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Primary Ciliary Dyskinesia	Ciliary dyskinesia	BEFREE	19208393, 21046290		★☆☆☆☆ Found in Text Mining only
Primary hyperoxaluria type 1	Hyperoxaluria	Pubtator	34066864	Associate	★☆☆☆☆ Found in Text Mining only
Renal carnitine transport defect	Renal Carnitine Transport Defect	BEFREE	19208393		★☆☆☆☆ Found in Text Mining only
Rhabdomyolysis	Rhabdomyolysis	Pubtator	31058673	Associate	★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	HPO_DG			★☆☆☆☆ Found in Text Mining only
Triglyceride storage disease with ichthyosis	Triglyceride Storage Disease With Ichthyosis	BEFREE	19208393		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	25907251, 34589136	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neurogenic	Neurogenic bladder	Pubtator	31785094	Associate	★☆☆☆☆ Found in Text Mining only