ACADS (acyl-CoA dehydrogenase short chain)

Gene

• Entrez ID: 35
• Gene name: Acyl-CoA dehydrogenase short chain
• Gene symbol: ACADS
• Synonyms (NCBI Gene): ACAD3, SCAD
• Chromosome: 12
• Chromosome location: 12q24.31
• Summary: This gene encodes a tetrameric mitochondrial flavoprotein, which is a member of the acyl-CoA dehydrogenase family. This enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Mutations in this gene have been associated w

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1800556	C>T	Conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, intron variant, missense variant
rs28940872	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs28940875	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs28941773	C>T	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs57443665	T>C,G	Pathogenic-likely-pathogenic, pathogenic	Missense variant, intron variant, coding sequence variant
rs61732144	C>T	Pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs117356004	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs121908003	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs121908006	C>T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs140853839	C>A,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs147442301	C>T	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs149107232	G>A,C	Likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs183161718	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs202124189	G>A,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs368469075	G>T	Pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs374726386	G>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs387906308	GAG>-	Likely-pathogenic, pathogenic	Coding sequence variant, inframe deletion
rs387906950	A>G	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs537072819	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs539219309	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs541587321	C>G,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, stop gained
rs746368198	G>A	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs749491616	C>G,T	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained, synonymous variant
rs750941135	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs752677472	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs753758429	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs765758808	->CGGGCCC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs766579880	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, intron variant
rs767155955	A>C,T	Likely-pathogenic	Coding sequence variant, missense variant
rs767774362	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, stop gained
rs780571371	G>A,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs786204691	GA>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs796051902	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs796051905	G>T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs796051906	CGC>TGT	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs932525260	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1001298373	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1057516231	A>G	Likely-pathogenic	Intron variant, splice acceptor variant
rs1057516385	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057516421	TG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057516436	->G	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057516566	G>A	Likely-pathogenic	Splice acceptor variant
rs1057516606	->C	Conflicting-interpretations-of-pathogenicity	Frameshift variant, coding sequence variant
rs1057516639	G>A	Likely-pathogenic	Splice donor variant
rs1057516685	TT>-	Likely-pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1057516733	TCCAGACATGC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057516848	C>A	Likely-pathogenic	Intron variant, stop gained, coding sequence variant
rs1057516967	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057517155	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1064793612	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064795254	CGT>TGC	Pathogenic	Missense variant, coding sequence variant
rs1226857910	G>A	Likely-pathogenic	Splice acceptor variant
rs1291226969	A>G	Likely-pathogenic	Initiator codon variant, missense variant
rs1555244280	GC>AT	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1555244366	G>-	Likely-pathogenic	Splice donor variant, coding sequence variant
rs1555244367	G>A,T	Likely-pathogenic	Splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT029099	hsa-miR-26b-5p	Microarray	19088304
MIRT049063	hsa-miR-92a-3p	CLASH	23622248
MIRT041697	hsa-miR-484	CLASH	23622248
MIRT735703	hsa-miR-125b-5p	Luciferase reporter assay, Western blotting, qRT-PCR	31912457
MIRT761470	hsa-miR-149	CLIP-seq
MIRT761471	hsa-miR-3170	CLIP-seq
MIRT761472	hsa-miR-331-3p	CLIP-seq
MIRT761473	hsa-miR-342-5p	CLIP-seq
MIRT761474	hsa-miR-3612	CLIP-seq
MIRT761475	hsa-miR-4443	CLIP-seq
MIRT761476	hsa-miR-4651	CLIP-seq
MIRT761477	hsa-miR-4664-5p	CLIP-seq
MIRT761478	hsa-miR-608	CLIP-seq
MIRT761479	hsa-miR-650	CLIP-seq
MIRT1545051	hsa-miR-1225-3p	CLIP-seq
MIRT1545052	hsa-miR-3943	CLIP-seq
MIRT1545053	hsa-miR-4632	CLIP-seq
MIRT1924520	hsa-miR-1343	CLIP-seq
MIRT1924521	hsa-miR-1910	CLIP-seq
MIRT1545051	hsa-miR-1225-3p	CLIP-seq
MIRT2165775	hsa-miR-205	CLIP-seq
MIRT1545052	hsa-miR-3943	CLIP-seq
MIRT2165776	hsa-miR-4446-3p	CLIP-seq
MIRT2165777	hsa-miR-4494	CLIP-seq
MIRT1545053	hsa-miR-4632	CLIP-seq
MIRT2165778	hsa-miR-499a-5p	CLIP-seq
MIRT2165779	hsa-miR-520d-5p	CLIP-seq
MIRT2165780	hsa-miR-524-5p	CLIP-seq
MIRT1545051	hsa-miR-1225-3p	CLIP-seq
MIRT1545052	hsa-miR-3943	CLIP-seq
MIRT1545053	hsa-miR-4632	CLIP-seq
MIRT1545051	hsa-miR-1225-3p	CLIP-seq
MIRT2468382	hsa-miR-1915	CLIP-seq
MIRT2468383	hsa-miR-2355-5p	CLIP-seq
MIRT1545052	hsa-miR-3943	CLIP-seq
MIRT2468384	hsa-miR-4270	CLIP-seq
MIRT2468385	hsa-miR-4441	CLIP-seq
MIRT2468386	hsa-miR-4667-5p	CLIP-seq
MIRT2468387	hsa-miR-4700-5p	CLIP-seq
MIRT2468388	hsa-miR-615-5p	CLIP-seq
MIRT2468389	hsa-miR-637	CLIP-seq
MIRT1545051	hsa-miR-1225-3p	CLIP-seq
MIRT2468382	hsa-miR-1915	CLIP-seq
MIRT2468383	hsa-miR-2355-5p	CLIP-seq
MIRT1545052	hsa-miR-3943	CLIP-seq
MIRT2468384	hsa-miR-4270	CLIP-seq
MIRT2468385	hsa-miR-4441	CLIP-seq
MIRT2468386	hsa-miR-4667-5p	CLIP-seq
MIRT2468387	hsa-miR-4700-5p	CLIP-seq
MIRT2468388	hsa-miR-615-5p	CLIP-seq
MIRT2468389	hsa-miR-637	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003995	Function	Acyl-CoA dehydrogenase activity	IDA	3597357
GO:0003995	Function	Acyl-CoA dehydrogenase activity	IMP	11134486
GO:0003995	Function	Acyl-CoA dehydrogenase activity	ISS
GO:0004085	Function	Butyryl-CoA dehydrogenase activity	IBA	21873635
GO:0004085	Function	Butyryl-CoA dehydrogenase activity	ISS
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005654	Component	Nucleoplasm	IDA
GO:0005739	Component	Mitochondrion	IDA	16729965
GO:0005759	Component	Mitochondrial matrix	ISS
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005813	Component	Centrosome	IDA
GO:0006635	Process	Fatty acid beta-oxidation	IC	11134486
GO:0006635	Process	Fatty acid beta-oxidation	TAS
GO:0033539	Process	Fatty acid beta-oxidation using acyl-CoA dehydrogenase	IDA	3597357
GO:0046359	Process	Butyrate catabolic process	IBA	21873635
GO:0050660	Function	Flavin adenine dinucleotide binding	IEA

Other IDs

• MIM: 606885
• HGNC: 90
• e!Ensembl: ENSG00000122971

Protein

• UniProt ID: P16219
• Protein name: Short-chain specific acyl-CoA dehydrogenase, mitochondrial (SCAD) (EC 1.3.8.1) (Butyryl-CoA dehydrogenase)
• Protein function: Short-chain specific acyl-CoA dehydrogenase is one of the acyl-CoA dehydrogenases that catalyze the first step of mitochondrial fatty acid beta-oxidation, an aerobic process breaking down fatty acids into acetyl-CoA and allowing the production o
• PDB: 2VIG, 7Y0A, 7Y0B, 8SGS
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02771	Acyl-CoA_dh_N	35 → 147	Acyl-CoA dehydrogenase, N-terminal domain	Domain
  PF02770	Acyl-CoA_dh_M	151 → 246	Acyl-CoA dehydrogenase, middle domain	Domain
  PF00441	Acyl-CoA_dh_1	258 → 407	Acyl-CoA dehydrogenase, C-terminal domain	Domain

• Sequence:

  MAAALLARASGPARRALCPRAWRQLHTIYQSVELPETHQMLLQTCRDFAEKELFPIAAQV
  DKEHLFPAAQVKKMGGLGLLAMDVPEELGGAGLDYLAYAIAMEEISRGCASTGVIMSVNN
  SLYLGPILKFGSKEQKQAWVTPFTSGDKIGCFALSEPGNGSDAGAASTTARAEGDSWVLN
  GTKAWITNAWEASAAVVFASTDRALQNKGISAFLVPMPTPGLTLGKKEDKLGIRGSSTAN
  LIFEDCRIPKDSILGEPGMGFKIAMQTLDMGRIGIASQALGIAQTALDCAVNYAENRMAF
  GAPLTKLQVIQFKLADMALALESARLLTWRAAMLKDNKKPFIKEAAMAKLAASEAATAIS
  HQAIQILGGMGYVTEMPAERHYRDARITEIYEGTSEIQRLVIAGHLLRSYRS

• Sequence length: 412

Pathways

KEGG:

Fatty acid degradation
Valine, leucine and isoleucine degradation
beta-Alanine metabolism
Propanoate metabolism
Butanoate metabolism
Metabolic pathways
Carbon metabolism
Fatty acid metabolism

Reactome:

Beta oxidation of hexanoyl-CoA to butanoyl-CoA
Beta oxidation of butanoyl-CoA to acetyl-CoA

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
Deficiency of butyryl-coa dehydrogenase	Deficiency of butyryl-CoA dehydrogenase	rs121908003, rs61732144, rs121908004, rs57443665, rs28940872, rs387906308, rs121908006, rs28941773, rs28940875, rs147442301, rs387906950, rs752677472, rs786204691, rs140853839, rs796051906, rs368469075, rs796051905, rs1057516967, rs1057516733, rs1057516566, rs1057516385, rs749491616, rs149107232, rs1057516231, rs1057516848, rs1057516685, rs1057516436, rs1057516606, rs1057516639, rs1057517155, rs541587321, rs1057516421, rs767774362, rs539219309, rs1555244280, rs932525260, rs1555244367, rs765758808, rs1226857910, rs1555244366, rs1291226969, rs766579880, rs1452314438, rs1482609511, rs1018117461	29678161, 1692038, 2808706, 30035407, 24309898, 27466294, 18951053, 28454995, 9499414, 16926354, 28516284, 27938594, 28018444, 12736383, 26274329, 11134486, 20376488, 23798014, 22424739, 24816252, 18676165, 12872838, 21483766, 28532786, 24485985, 21325261, 26110041, 16546179, 14568186, 2919115, 22241096, 9582344, 18054510, 14506246, 21170680, 19800078, 16906473, 26055667, 18523805, 21500142
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Kidney disease	Chronic Kidney Diseases	rs74315342, rs749740335, rs757649673, rs112417755, rs35138315	29545352
Myopathy	Myopathy	rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166, rs193922856, rs281865489, rs397514675, rs397514676, rs397514677, rs367543058, rs118192117, rs193922837, rs118192129, rs118192143, rs118192153, rs118192133, rs118192156, rs118192149, rs118192148, rs118192183, rs118192147, rs118192123, rs118192127, rs118192142, rs118192144, rs118192178, rs118192151, rs118192150, rs118192184, rs118192154, rs118192134, rs118192155, rs193922893, rs118192132, rs118192146, rs193922867, rs193922884, rs587777528, rs527236030, rs587777672, rs587777673, rs587777674, rs587777675, rs587783343, rs2754158, rs786204796, rs748277951, rs797046047, rs797046064, rs797046060, rs797045479, rs797045931, rs797045932, rs797045934, rs797045935, rs797045477, rs797045478, rs1057518851, rs1057518855, rs1057518773, rs1057518866, rs1555322610, rs1555806119, rs761483896, rs144071404, rs1198364572, rs1568614042, rs978984063, rs1568604308, rs1332371891, rs1601842249, rs777176261, rs1249621033, rs1278804520, rs1568613962, rs1568510406, rs1597512576, rs193922887, rs371455345, rs1603452200, rs1599634685, rs1575065895, rs1575201712, rs139715157, rs1974129338
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085

Unknown
Disease term	Disease name	Evidence	References	Source
Congestive heart failure	Congestive heart failure		30827304	ClinVar
Heart failure	Heart failure, Left-Sided Heart Failure, Heart Failure, Right-Sided		30827304	ClinVar
Myocardial infarction	Myocardial Failure		30827304	ClinVar
Schizophrenia	Schizophrenia			GWAS
Diabetes	Diabetes			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Adult onset citrullinemia type 2	Associate	36787440
Carcinoma Hepatocellular	Associate	35196258, 35286894
Chanarin Dorfman Syndrome	Associate	36207828, 40225143
Colorectal Neoplasms	Associate	31949199, 36552870
Colorectal Neoplasms	Inhibit	34790035
Diabetes Mellitus Type 2	Associate	21211036
Ethylmalonic encephalopathy	Associate	16183799
Immunologic Deficiency Syndromes	Associate	26110041, 29678161
Inflammatory Bowel Diseases	Associate	31211831
Kidney Calculi	Associate	32381601
Lung Diseases	Associate	32593204
Medium chain acyl CoA dehydrogenase deficiency	Associate	37667308, 8102510
Multiple Acyl Coenzyme A Dehydrogenase Deficiency	Associate	16183799, 38103157
Neoplasms	Associate	34790035
Neurologic Manifestations	Associate	33973257
Pulmonary Disease Chronic Obstructive	Associate	32593204
Short chain Acyl CoA dehydrogenase deficiency	Associate	1692038, 23155713, 26110041, 29678161, 32253862, 36207828, 36207829, 36787440, 8102510