HIBCH (3-hydroxyisobutyryl-CoA hydrolase)

Gene

• Entrez ID: 26275
• Gene name: 3-hydroxyisobutyryl-CoA hydrolase
• Gene symbol: HIBCH
• Synonyms (NCBI Gene): HIBYLCOAH
• Chromosome: 2
• Chromosome location: 2q32.2
• Summary: This gene encodes the enzyme responsible for hydrolysis of both HIBYL-CoA and beta-hydroxypropionyl-CoA. Mutations in this gene have been associated with 3-hyroxyisobutyryl-CoA hydrolase deficiency. Alternative splicing results in multiple transcript vari

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs74832989	C>A,G,T	Benign, pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant
rs121918329	T>C	Likely-pathogenic, pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, missense variant
rs143746450	C>A,T	Pathogenic, likely-pathogenic	Splice donor variant
rs144053672	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs755786597	C>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant, non coding transcript variant
rs767597690	T>-,TT	Pathogenic	Frameshift variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant
rs770114459	C>T	Pathogenic	Intron variant, coding sequence variant, missense variant
rs776592661	T>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs778922921	G>A,C	Pathogenic	Intron variant, genic upstream transcript variant
rs786200864	A>C	Pathogenic	Genic upstream transcript variant, intron variant
rs786204004	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs863225062	->A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, 3 prime UTR variant
rs1021805910	C>T	Pathogenic	Splice donor variant
rs1064796851	ATT>-	Likely-pathogenic	Inframe deletion, 3 prime UTR variant, coding sequence variant, non coding transcript variant
rs1131692017	T>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1553499757	A>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1553501873	G>A	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant
rs1553505302	A>G	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs1553506164	T>G	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1045323	hsa-miR-1324	CLIP-seq
MIRT1045324	hsa-miR-4645-3p	CLIP-seq
MIRT1045325	hsa-miR-548aa	CLIP-seq
MIRT1045326	hsa-miR-548ac	CLIP-seq
MIRT1045327	hsa-miR-548d-3p	CLIP-seq
MIRT1045328	hsa-miR-548z	CLIP-seq
MIRT1045329	hsa-miR-4446-5p	CLIP-seq
MIRT1045330	hsa-miR-4474-5p	CLIP-seq
MIRT1045331	hsa-miR-4775	CLIP-seq
MIRT1045332	hsa-miR-5096	CLIP-seq
MIRT1045333	hsa-miR-548c-3p	CLIP-seq
MIRT1045334	hsa-miR-590-3p	CLIP-seq
MIRT1045335	hsa-miR-598	CLIP-seq
MIRT1045336	hsa-miR-944	CLIP-seq
MIRT2242355	hsa-miR-1245b-3p	CLIP-seq
MIRT2242356	hsa-miR-3144-3p	CLIP-seq
MIRT2242357	hsa-miR-330-3p	CLIP-seq
MIRT2242358	hsa-miR-410	CLIP-seq
MIRT2242359	hsa-miR-4691-3p	CLIP-seq
MIRT2242360	hsa-miR-496	CLIP-seq
MIRT2242361	hsa-miR-607	CLIP-seq
MIRT2242362	hsa-miR-875-5p	CLIP-seq
MIRT2388955	hsa-miR-1287	CLIP-seq
MIRT2388956	hsa-miR-1290	CLIP-seq
MIRT2388957	hsa-miR-214	CLIP-seq
MIRT2388958	hsa-miR-3167	CLIP-seq
MIRT2388959	hsa-miR-3619-5p	CLIP-seq
MIRT2388960	hsa-miR-3652	CLIP-seq
MIRT2242358	hsa-miR-410	CLIP-seq
MIRT2388961	hsa-miR-4430	CLIP-seq
MIRT2388962	hsa-miR-4514	CLIP-seq
MIRT2388963	hsa-miR-4690-5p	CLIP-seq
MIRT2242359	hsa-miR-4691-3p	CLIP-seq
MIRT2388964	hsa-miR-4692	CLIP-seq
MIRT2388965	hsa-miR-761	CLIP-seq
MIRT2388966	hsa-miR-876-5p	CLIP-seq
MIRT2242355	hsa-miR-1245b-3p	CLIP-seq
MIRT1045323	hsa-miR-1324	CLIP-seq
MIRT2545946	hsa-miR-25	CLIP-seq
MIRT2545947	hsa-miR-32	CLIP-seq
MIRT2545948	hsa-miR-320a	CLIP-seq
MIRT2545949	hsa-miR-320b	CLIP-seq
MIRT2545950	hsa-miR-320c	CLIP-seq
MIRT2545951	hsa-miR-320d	CLIP-seq
MIRT2545952	hsa-miR-323b-3p	CLIP-seq
MIRT2242357	hsa-miR-330-3p	CLIP-seq
MIRT2545953	hsa-miR-363	CLIP-seq
MIRT2545954	hsa-miR-367	CLIP-seq
MIRT2545955	hsa-miR-3674	CLIP-seq
MIRT2545956	hsa-miR-3675-3p	CLIP-seq
MIRT2242358	hsa-miR-410	CLIP-seq
MIRT2545957	hsa-miR-4429	CLIP-seq
MIRT1045324	hsa-miR-4645-3p	CLIP-seq
MIRT2242359	hsa-miR-4691-3p	CLIP-seq
MIRT2242360	hsa-miR-496	CLIP-seq
MIRT1045325	hsa-miR-548aa	CLIP-seq
MIRT1045326	hsa-miR-548ac	CLIP-seq
MIRT1045327	hsa-miR-548d-3p	CLIP-seq
MIRT1045328	hsa-miR-548z	CLIP-seq
MIRT2545958	hsa-miR-606	CLIP-seq
MIRT2242361	hsa-miR-607	CLIP-seq
MIRT2545959	hsa-miR-891b	CLIP-seq
MIRT2545960	hsa-miR-92a	CLIP-seq
MIRT2545961	hsa-miR-92b	CLIP-seq
MIRT2242355	hsa-miR-1245b-3p	CLIP-seq
MIRT1045323	hsa-miR-1324	CLIP-seq
MIRT2545946	hsa-miR-25	CLIP-seq
MIRT2545947	hsa-miR-32	CLIP-seq
MIRT2545948	hsa-miR-320a	CLIP-seq
MIRT2545949	hsa-miR-320b	CLIP-seq
MIRT2545950	hsa-miR-320c	CLIP-seq
MIRT2545951	hsa-miR-320d	CLIP-seq
MIRT2545952	hsa-miR-323b-3p	CLIP-seq
MIRT2242357	hsa-miR-330-3p	CLIP-seq
MIRT2545953	hsa-miR-363	CLIP-seq
MIRT2545954	hsa-miR-367	CLIP-seq
MIRT2545955	hsa-miR-3674	CLIP-seq
MIRT2545956	hsa-miR-3675-3p	CLIP-seq
MIRT2242358	hsa-miR-410	CLIP-seq
MIRT2545957	hsa-miR-4429	CLIP-seq
MIRT1045324	hsa-miR-4645-3p	CLIP-seq
MIRT2242359	hsa-miR-4691-3p	CLIP-seq
MIRT2242360	hsa-miR-496	CLIP-seq
MIRT1045325	hsa-miR-548aa	CLIP-seq
MIRT1045326	hsa-miR-548ac	CLIP-seq
MIRT1045327	hsa-miR-548d-3p	CLIP-seq
MIRT1045328	hsa-miR-548z	CLIP-seq
MIRT2545958	hsa-miR-606	CLIP-seq
MIRT2242361	hsa-miR-607	CLIP-seq
MIRT2545959	hsa-miR-891b	CLIP-seq
MIRT2545960	hsa-miR-92a	CLIP-seq
MIRT2545961	hsa-miR-92b	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003860	Function	3-hydroxyisobutyryl-CoA hydrolase activity	EXP	8824301
GO:0003860	Function	3-hydroxyisobutyryl-CoA hydrolase activity	IBA	21873635
GO:0003860	Function	3-hydroxyisobutyryl-CoA hydrolase activity	IDA	8824301
GO:0005739	Component	Mitochondrion	IBA	21873635
GO:0005739	Component	Mitochondrion	IDA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006574	Process	Valine catabolic process	IBA	21873635
GO:0006574	Process	Valine catabolic process	IEA
GO:0009083	Process	Branched-chain amino acid catabolic process	TAS

Other IDs

• MIM: 610690
• HGNC: 4908
• e!Ensembl: ENSG00000198130

Protein

• UniProt ID: Q6NVY1
• Protein name: 3-hydroxyisobutyryl-CoA hydrolase, mitochondrial (EC 3.1.2.4) (3-hydroxyisobutyryl-coenzyme A hydrolase) (HIB-CoA hydrolase) (HIBYL-CoA-H)
• Protein function: Hydrolyzes 3-hydroxyisobutyryl-CoA (HIBYL-CoA), a saline catabolite. Has high activity toward isobutyryl-CoA. Could be an isobutyryl-CoA dehydrogenase that functions in valine catabolism. Also hydrolyzes 3-hydroxypropanoyl-CoA. {ECO:0000269|PubM
• PDB: 3BPT
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF16113	ECH_2	46 → 376	Enoyl-CoA hydratase/isomerase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in liver and kidney, also detected in heart, muscle and brain (at protein level). Not detected in lung. {ECO:0000269|PubMed:8824301}.
• Sequence:

  MGQREMWRLMSRFNAFKRTNTILHHLRMSKHTDAAEEVLLEKKGCTGVITLNRPKFLNAL
  TLNMIRQIYPQLKKWEQDPETFLIIIKGAGGKAFCAGGDIRVISEAEKAKQKIAPVFFRE
  EYMLNNAVGSCQKPYVALIHGITMGGGVGLSVHGQFRVATEKCLFAMPETAIGLFPDVGG
  GYFLPRLQGKLGYFLALTGFRLKGRDVYRAGIATHFVDSEKLAMLEEDLLALKSPSKENI
  ASVLENYHTESKIDRDKSFILEEHMDKINSCFSANTVEEIIENLQQDGSSFALEQLKVIN
  KMSPTSLKITLRQLMEGSSKTLQEVLTMEYRLSQACMRGHDFHEGVRAVLIDKDQSPKWK
  PADLKEVTEEDLNNHFKSLGSSDLKF

• Sequence length: 386

Pathways

KEGG:

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

Reactome:

Branched-chain amino acid catabolism

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Agenesis of corpus callosum	Agenesis of corpus callosum	rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Arthritis	Degenerative polyarthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470	18784066
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
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
Developmental regression	Developmental regression	rs1224421127
Epileptic encephalopathy	Encephalopathies	rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625, rs121918626, rs121918629, rs121918632, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192242, rs118192185, rs118192188, rs118192246, rs118192186, rs118192194, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192215, rs118192216, rs118192239, rs397514458, rs387906686, rs202151337, rs121917957, rs121917929, rs121917927, rs121917966, rs121917941, rs121917964, rs121917943, rs121917965, rs121917918, rs121917963, rs121917911, rs121917912, rs121917986, rs121917987, rs121917913, rs121917945, rs121917996, rs121917975, rs121917919, rs121917993, rs121917915, rs121917995, rs121917976, rs121917994, rs121917926, rs121917951, rs121917952, rs121917980, rs121917921, rs121917935, rs121917936, rs121917984, rs121917937, rs121917985, rs121917938, rs121917928, rs121918753, rs121918781, rs121918782, rs121918784, rs121918734, rs121918788, rs121917969, rs121918775, rs121918786, rs121918796, rs121918745, rs121918740, rs121918741, rs121918789, rs121918742, rs121918791, rs121918811, rs121917922, rs121918744, rs121918778, rs121918767, rs121918779, rs121918770, rs121918783, rs121918773, rs121918793, rs267606051, rs398123585, rs398123588, rs398123593, rs587777164, rs587777219, rs587777310, rs587780446, rs587777492, rs587777495, rs587777577, rs267608501, rs587777721, rs587783192, rs587783200, rs104894745, rs587784453, rs587784454, rs587784438, rs587784440, rs727504136, rs727503974, rs727504140, rs727504173, rs201497300, rs786204967, rs794726739, rs794726845, rs779614747, rs794726726, rs794726763, rs794726754, rs794726760, rs794726759, rs199727342, rs794726800, rs794726752, rs794726825, rs794726809, rs794726696, rs794726699, rs794726705, rs794726784, rs794726779, rs794726821, rs146878122, rs794726816, rs794726744, rs794726854, rs794726710, rs794726733, rs542420576, rs794726772, rs794726842, rs794726718, rs794726761, rs794726697, rs794726775, rs397514459, rs767045134, rs794726766, rs794726742, rs794726730, rs794726778, rs794726736, rs794726773, rs794726790, rs794726826, rs794726753, rs794726799, rs794726844, rs794726782, rs794726798, rs794726824, rs794726827, rs794726803, rs794726711, rs794726762, rs786205598, rs863223345, rs794727128, rs794727337, rs794727361, rs794727444, rs794727740, rs794727792, rs794727970, rs863225068, rs796053181, rs796053130, rs796053048, rs796053086, rs796053103, rs796053043, rs796053085, rs796053035, rs796053031, rs796053029, rs796053022, rs139300715, rs796053014, rs1553522472, rs796053010, rs121917908, rs796053008, rs794726789, rs796053004, rs796053072, rs796052995, rs796053067, rs796052990, rs796052987, rs796052985, rs796053065, rs1553543316, rs796053064, rs796052977, rs796052976, rs796052973, rs796052972, rs781746113, rs796052960, rs796052959, rs796053054, rs1553551312, rs796052953, rs758871507, rs796053350, rs1554776228, rs796053352, rs796053390, rs796053353, rs796053359, rs796053361, rs796053366, rs796053367, rs796053370, rs796053368, rs796053373, rs796053376, rs796053377, rs1554768992, rs796053335, rs796053233, rs796053214, rs796053216, rs796053224, rs796053228, rs796053229, rs796052658, rs796052670, rs796052654, rs796052653, rs796052652, rs773171451, rs1555853593, rs759584387, rs796052650, rs118192233, rs796052657, rs796052644, rs796052645, rs796052641, rs796052640, rs775918190, rs796052636, rs796052626, rs796052623, rs796052621, rs796052620, rs796052618, rs796052617, rs796052663, rs797044983, rs797045013, rs797044878, rs797044951, rs797044873, rs797044938, rs797045969, rs118192212, rs863225037, rs863225036, rs863225030, rs863225031, rs864321707, rs864321712, rs869312684, rs869312920, rs869312939, rs878853250, rs878854263, rs878854262, rs751170778, rs878854974, rs878855236, rs1555794286, rs879255652, rs879255695, rs879255697, rs879255704, rs879255705, rs879255709, rs879255710, rs886039323, rs886039435, rs886039494, rs886039903, rs1135401734, rs1135401733, rs1135401732, rs886042004, rs886041716, rs886041961, rs886041668, rs886041246, rs886041339, rs886041766, rs886041262, rs886041715, rs886042528, rs886042605, rs886063501, rs1555850151, rs1057516123, rs1555853971, rs1057516115, rs1057516106, rs1057516105, rs1057516099, rs1057516098, rs1057516094, rs1057516089, rs1057516086, rs1057516085, rs1057516080, rs1057516079, rs1057516076, rs1057518325, rs1057517862, rs1057517849, rs1057518243, rs1057518258, rs1057517958, rs121917974, rs1057517959, rs796053374, rs1057517919, rs1057518489, rs1057518801, rs1057518816, rs759766243, rs1057518795, rs1057518985, rs1057519000, rs1057519269, rs1057519270, rs1057519452, rs375659415, rs1057519501, rs1057519528, rs1057519526, rs1057519527, rs1057519524, rs796053083, rs1057519529, rs1057519531, rs1057519547, rs1057519548, rs1057519545, rs1057519538, rs1057519539, rs1057519537, rs1057519540, rs1057519549, rs1057519550, rs1057519535, rs1057519536, rs1057519542, rs778291283, rs1057520486, rs794726765, rs750209664, rs121917753, rs1057521746, rs1057523858, rs1057520753, rs1057520413, rs1057521080, rs1057524599, rs778481061, rs768633670, rs796052655, rs1060502190, rs1060502183, rs121918780, rs1060502185, rs1057521537, rs1060502187, rs121918765, rs1060502182, rs121917981, rs1060502188, rs1060502189, rs1060503108, rs1060501724, rs1060501722, rs1060501723, rs1060501012, rs1060504137, rs1060500603, rs1060500602, rs1060499592, rs796053138, rs1064795579, rs1553520298, rs121918805, rs1064795733, rs1064796177, rs1064795735, rs1064794634, rs1064796384, rs1064796213, rs1064793923, rs1064794727, rs1064794533, rs1064795384, rs1555850842, rs1064794001, rs1064796151, rs1064795435, rs1064797284, rs1085307930, rs1085307730, rs1085307916, rs1085307876, rs1085307920, rs1131691773, rs1131691774, rs1131691675, rs1131691775, rs1131691693, rs1131691465, rs1131691830, rs1131691936, rs1057523728, rs1199412903, rs1555228303, rs1555507477, rs1554965669, rs1555499800, rs1553923787, rs922847767, rs368609628, rs1553286282, rs1266877537, rs794726749, rs1553551425, rs1553552390, rs1554778657, rs1555889130, rs1555881741, rs1553520320, rs1553522517, rs796053006, rs1553534296, rs1553541028, rs1553544579, rs1553551385, rs1553520380, rs1553525210, rs1553541473, rs761333438, rs1553520982, rs1553522321, rs1553520318, rs1553540503, rs1553540389, rs1553542199, rs1553543215, rs1553541172, rs1553549483, rs750901301, rs794726743, rs1553545660, rs1553561023, rs1553548096, rs1553552319, rs1553560760, rs1554037381, rs1554776948, rs1554778417, rs1057522982, rs1555219147, rs1555218657, rs1555850590, rs1555869758, rs1555873823, rs1553525325, rs794727813, rs1555228771, rs1553520530, rs1555870346, rs1555955296, rs1553551493, rs1555546796, rs1555870554, rs1555871832, rs77216276, rs1554689320, rs1554777496, rs1555881809, rs1553529461, rs12131800, rs1553517274, rs1555889127, rs1555951141, rs1553590192, rs1553531178, rs1555870470, rs927722314, rs1553523142, rs1041924436, rs1553544559, rs1553544821, rs1553520319, rs1553560677, rs1553521567, rs1553522331, rs1553519872, rs1553529426, rs1553519902, rs1553520029, rs1553545522, rs1553520439, rs146515561, rs1553549461, rs1553549834, rs1553546789, rs1553553614, rs1553560676, rs1553520227, rs1553524865, rs1553525036, rs1553560740, rs1553561016, rs1193718145, rs1554769099, rs936639741, rs1352024223, rs758779535, rs1555870506, rs747376305, rs1555869700, rs1555873656, rs1555873981, rs536000212, rs959316981, rs1554777470, rs1555889108, rs1559144583, rs1569219844, rs1564346538, rs1562159088, rs1559101839, rs1559114303, rs1559140110, rs1559140306, rs1043031572, rs121918756, rs1559199628, rs1559200672, rs796053095, rs1559210063, rs1559225495, rs1553549471, rs1559103294, rs1559105368, rs121918764, rs1559114837, rs1559122124, rs1559127505, rs1559128532, rs1559140855, rs1559149128, rs1559217391, rs1559220874, rs794726695, rs1559249734, rs1553553527, rs1559101585, rs1559110846, rs1559193050, rs1559216338, rs1559231284, rs148442069, rs1559105301, rs1559114202, rs121917954, rs1559195296, rs1553546763, rs1559238432, rs1559884460, rs1559887808, rs1564352002, rs1564349850, rs1564351103, rs1565933795, rs1565886685, rs1555228668, rs587777723, rs1564333757, rs375363057, rs1568932480, rs1568925719, rs770187706, rs1568864658, rs1568899375, rs118192209, rs1568932462, rs1568927747, rs1057518555, rs1559119345, rs1085307520, rs1559200901, rs970867558, rs1568940442, rs775162839, rs1568986619, rs1558308998, rs1553546668, rs1569017015, rs1569017045, rs1569017073, rs1555889090, rs1569017143, rs1569017148, rs1569017205, rs1179351306, rs1569017257, rs1569017337, rs1555889162, rs1568658507, rs1485894376, rs1561139569, rs1574716488, rs1553519865, rs1573946994, rs1573948129, rs121918812, rs1573950349, rs1573952908, rs1573964264, rs1573964628, rs372425457, rs1573984004, rs1574004452, rs1574005235, rs1574006637, rs1574006857, rs1574039742, rs121918801, rs1574051496, rs1574051665, rs1574060250, rs1574060717, rs1574169179, rs1574170908, rs121918774, rs1574192005, rs1574192998, rs1574201591, rs1574216450, rs1574223964, rs1574224274, rs1574225593, rs748267258, rs1553547380, rs1574263819, rs1574265144, rs762927460, rs1574266490, rs1574271827, rs1574302195, rs1574371399, rs1575603683, rs763339068, rs1588313568, rs1589416130, rs1592380672, rs1592148206, rs1592149793, rs1592149906, rs1592162415, rs1592162506, rs1596787821, rs1600755607, rs1600755429, rs1600731888, rs1601573302, rs1601566621, rs1601542702, rs1601542417, rs1600886270, rs1600766500, rs1574370981, rs1573962555, rs1574068971, rs1057524737, rs1574263047, rs1575601202, rs1554777464, rs1589393179, rs1597696047, rs1247507359, rs752927520, rs1473654961, rs1592380834, rs796053036, rs1573953706, rs1573973548, rs1573984110, rs1574007140, rs1574166948, rs745378416, rs1574209023, rs796053094, rs1574264920, rs1600714727, rs755159935, rs1574281711, rs779324355, rs1053767552, rs201894374, rs770456604, rs113094436, rs1578264574, rs1260191836, rs1578265048, rs1578265068, rs1578269200, rs1186496501, rs1578269761, rs756467468, rs1381665298, rs1578270476, rs1578274054, rs769243823, rs200059198, rs749975104, rs1578282133, rs1306655122, rs1600785769, rs1580990072, rs1584399108, rs1057519189, rs1595440453, rs1596872804, rs1597653264, rs1597676610, rs1599719527, rs1600755440, rs1600786071, rs770904422, rs1574525321, rs1840653547, rs749965674, rs1841611651, rs1841766225, rs1852152679, rs1853919580, rs1858669268, rs1941650264, rs1941714576, rs1938725748, rs2037920694, rs2037920791, rs2079949302, rs2079962041, rs2079972258, rs2080188103, rs2080189052, rs1057520773, rs2081071680, rs2081187047, rs2081187692, rs2081358991, rs2081378550, rs1698943949, rs1698602170, rs1698192456, rs1698176171, rs1369404945, rs1698003832, rs1698002491, rs1697999557, rs398123581, rs1697674296, rs1697473667, rs1697277384, rs1697160366, rs1697157422, rs1426666349, rs1697134047, rs1696883051, rs1696628056, rs794726823, rs1696403750, rs897883046, rs1696401617, rs1696356978, rs1696338792, rs1693176153, rs1692577292, rs1240187329, rs1553529527, rs1692166604, rs1691093633, rs1691039670, rs1690583220, rs1690345764, rs1690011364, rs1553521530, rs1553521051, rs1386425283, rs1573952473, rs1689300152, rs1689298888, rs1689285717, rs1689278461, rs1238612161, rs1689271621, rs1253117981, rs1689218857, rs1689211960, rs1689211569, rs1689200375, rs1689142827, rs1684673339, rs1684663586, rs1699367901, rs1553553462, rs1699149959, rs1698958802, rs746440689, rs1692586274, rs1697876590, rs727504142, rs1689985819, rs794726764, rs1704944478, rs1178244073, rs1840967817, rs2080693649, rs1938214529, rs2080696874, rs2081190512, rs1691073965, rs1689488709, rs1691048388, rs1692581621, rs1692870117, rs121918785, rs749539763, rs1842042825, rs2081190344, rs1600789325
Leukoencephalopathy	Leukoencephalopathy	rs34757931
Neurodegeneration	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency, Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency	rs104894635, rs138504221, rs1057518915, rs753376100, rs1553501873
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Tetralogy of fallot	Tetralogy of Fallot	rs28939668, rs727504412, rs864321649, rs774966208, rs876660981, rs886044220, rs1114167357, rs1569484126, rs1569484164, rs1569484122, rs1569484124, rs1569484042, rs1569484120, rs1569484299, rs1569484301, rs1569484288
West syndrome	West Syndrome	rs267606715, rs267608421, rs727503974, rs786205598, rs794727152, rs796053134, rs796053162, rs1057517854, rs267608618, rs1555952078, rs1555954752, rs749975104

Unknown
Disease term	Disease name	Evidence	References	Source
Leigh Syndrome	Leigh syndrome			GenCC
Glioblastoma	Glioblastoma	CRISPR screening of E3 ubiquitin ligases reveals Ring Finger Protein 185 as a novel tumor suppressor in glioblastoma repressed by promoter hypermethylation and miR-587		GWAS, CBGDA

Associations from Text Mining
Disease Name	Relationship Type	References
Alzheimer Disease	Associate	40286336
Beta Hydroxyisobutyryl CoA Deacylase Deficiency	Stimulate	17160907
Beta Hydroxyisobutyryl CoA Deacylase Deficiency	Inhibit	36200804
Carcinoma Renal Cell	Associate	37638005
Diabetes Mellitus Type 2	Associate	37084480, 39280009
Hypertension Pulmonary	Associate	26352407
Lung Neoplasms	Associate	24325914
Mitochondrial Diseases	Associate	39280009
Movement Disorders	Associate	36200804
Neoplasms	Associate	24795352
Neurodegenerative Diseases	Associate	17160907
Prostatic Neoplasms	Associate	24795352
Vitamin B 12 Deficiency	Stimulate	31203192
Vitamin B 12 Deficiency	Associate	31203192