MCCC1 (methylcrotonyl-CoA carboxylase subunit 1)

Gene

• Entrez ID: 56922
• Gene name: Methylcrotonyl-CoA carboxylase subunit 1
• Gene symbol: MCCC1
• Synonyms: MCC-B, MCCA, MCCCalpha
• Chromosome: 3
• Chromosome location: 3q27.1
• Summary: This gene encodes the large subunit of 3-methylcrotonyl-CoA carboxylase. This enzyme functions as a heterodimer and catalyzes the carboxylation of 3-methylcrotonyl-CoA to form 3-methylglutaconyl-CoA. Mutations in this gene are associated with 3-Methylcrot

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs119103212	A>C	Pathogenic-likely-pathogenic, likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs119103213	T>G	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs119103214	C>G	Pathogenic	Non coding transcript variant, missense variant, intron variant, coding sequence variant
rs119103215	A>G	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs119103216	G>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs119103217	T>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic downstream transcript variant
rs119103218	A>C	Pathogenic	Non coding transcript variant, missense variant, intron variant, coding sequence variant
rs138480247	G>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs147741073	T>A,C	Pathogenic	Intron variant, stop gained, coding sequence variant, missense variant, non coding transcript variant
rs150862707	A>G,T	Pathogenic, likely-benign, benign	Stop gained, coding sequence variant, synonymous variant, non coding transcript variant
rs185741664	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs199517715	C>T	Pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant, intron variant
rs199914879	A>T	Pathogenic	Splice donor variant
rs375996272	G>A	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs398124350	C>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs398124351	A>G	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs398124353	G>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, intron variant, synonymous variant
rs544349961	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs727504001	T>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant
rs727504002	C>-	Pathogenic	Intron variant, coding sequence variant, non coding transcript variant, frameshift variant
rs727504005	C>T	Pathogenic	Splice acceptor variant
rs727504006	T>C	Pathogenic	Intron variant, splice acceptor variant
rs750484977	G>C	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs754460336	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, intron variant, missense variant
rs760180709	T>C	Pathogenic	Intron variant, genic downstream transcript variant
rs762463137	->C	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs762463914	T>C	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, missense variant, initiator codon variant, 5 prime UTR variant, upstream transcript variant
rs771730236	C>G	Likely-pathogenic	Splice donor variant, genic upstream transcript variant, upstream transcript variant
rs772010858	C>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs772395858	T>C	Likely-pathogenic, pathogenic	Splice acceptor variant
rs776641008	TCATTCTACAGATGTCATGTGATTACCTTTTCA>-	Pathogenic, likely-pathogenic	Coding sequence variant, intron variant, genic downstream transcript variant, non coding transcript variant, splice donor variant
rs779412317	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs796051985	CA>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs796051986	G>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs886058209	CC>-	Conflicting-interpretations-of-pathogenicity, pathogenic	Splice acceptor variant, non coding transcript variant, coding sequence variant
rs905321122	C>A,G	Pathogenic	Non coding transcript variant, missense variant, stop gained, coding sequence variant, genic downstream transcript variant
rs920162850	G>A	Pathogenic	Coding sequence variant, intron variant, synonymous variant, stop gained, non coding transcript variant
rs1057520695	G>C	Pathogenic	Intron variant, missense variant, non coding transcript variant, coding sequence variant
rs1191868168	C>T	Likely-pathogenic	Splice acceptor variant
rs1212517901	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1307589698	G>A,T	Uncertain-significance, likely-pathogenic	Intron variant, coding sequence variant, synonymous variant, missense variant, non coding transcript variant
rs1311374961	CT>-	Pathogenic	Intron variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1337201010	C>G	Likely-pathogenic	Splice acceptor variant
rs1394547323	->T	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1484347924	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1553850609	TTCGCTTTACTAGC>-	Pathogenic	Frameshift variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs1553856095	AT>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1553862845	C>A	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1560224024	GTACTCC>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1560256569	TCTC>GCTATGCTAT	Pathogenic	Non coding transcript variant, stop gained, inframe indel, coding sequence variant
rs1577276144	->G	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1577328234	G>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1136549	hsa-miR-1253	CLIP-seq
MIRT1136550	hsa-miR-185	CLIP-seq
MIRT1136551	hsa-miR-193a-3p	CLIP-seq
MIRT1136552	hsa-miR-193b	CLIP-seq
MIRT1136553	hsa-miR-3117-5p	CLIP-seq
MIRT1136554	hsa-miR-3165	CLIP-seq
MIRT1136555	hsa-miR-3187-3p	CLIP-seq
MIRT1136556	hsa-miR-4306	CLIP-seq
MIRT1136557	hsa-miR-4529-5p	CLIP-seq
MIRT1136558	hsa-miR-4644	CLIP-seq
MIRT1136559	hsa-miR-502-5p	CLIP-seq
MIRT1136560	hsa-miR-582-3p	CLIP-seq
MIRT1136549	hsa-miR-1253	CLIP-seq
MIRT1136551	hsa-miR-193a-3p	CLIP-seq
MIRT1136552	hsa-miR-193b	CLIP-seq
MIRT1136553	hsa-miR-3117-5p	CLIP-seq
MIRT2038873	hsa-miR-3135b	CLIP-seq
MIRT1136555	hsa-miR-3187-3p	CLIP-seq
MIRT2038874	hsa-miR-320a	CLIP-seq
MIRT2038875	hsa-miR-320b	CLIP-seq
MIRT2038876	hsa-miR-320c	CLIP-seq
MIRT2038877	hsa-miR-320d	CLIP-seq
MIRT2038878	hsa-miR-320e	CLIP-seq
MIRT2038879	hsa-miR-3612	CLIP-seq
MIRT2038880	hsa-miR-4429	CLIP-seq
MIRT2038881	hsa-miR-4443	CLIP-seq
MIRT1136557	hsa-miR-4529-5p	CLIP-seq
MIRT1136560	hsa-miR-582-3p	CLIP-seq
MIRT2038882	hsa-miR-650	CLIP-seq
MIRT1136549	hsa-miR-1253	CLIP-seq
MIRT1136551	hsa-miR-193a-3p	CLIP-seq
MIRT1136552	hsa-miR-193b	CLIP-seq
MIRT1136553	hsa-miR-3117-5p	CLIP-seq
MIRT1136555	hsa-miR-3187-3p	CLIP-seq
MIRT2268858	hsa-miR-4291	CLIP-seq
MIRT2268859	hsa-miR-4310	CLIP-seq
MIRT1136557	hsa-miR-4529-5p	CLIP-seq
MIRT2268860	hsa-miR-4666-3p	CLIP-seq
MIRT1136559	hsa-miR-502-5p	CLIP-seq
MIRT1136560	hsa-miR-582-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002169	Component	3-methylcrotonyl-CoA carboxylase complex, mitochondrial	NAS	11170888, 11181649, 11401427
GO:0002169	Component	3-methylcrotonyl-CoA carboxylase complex, mitochondrial	TAS	22869039
GO:0004075	Function	Biotin carboxylase activity	NAS	22869039
GO:0004485	Function	Methylcrotonoyl-CoA carboxylase activity	IDA	17360195
GO:0004485	Function	Methylcrotonoyl-CoA carboxylase activity	NAS	11170888, 11181649, 11401427
GO:0005515	Function	Protein binding	IPI	17360195, 27499296
GO:0005524	Function	ATP binding	IEA
GO:0005739	Component	Mitochondrion	IBA	21873635
GO:0005739	Component	Mitochondrion	IDA
GO:0005759	Component	Mitochondrial matrix	IDA	16023992
GO:0005759	Component	Mitochondrial matrix	NAS	11170888
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005829	Component	Cytosol	TAS
GO:0006552	Process	Leucine catabolic process	IEA
GO:0006552	Process	Leucine catabolic process	ISS	11170888
GO:0006552	Process	Leucine catabolic process	NAS	11170888
GO:0006768	Process	Biotin metabolic process	NAS	11401427, 22869039
GO:0006768	Process	Biotin metabolic process	TAS
GO:0009083	Process	Branched-chain amino acid catabolic process	TAS
GO:0009374	Function	Biotin binding	NAS	11401427
GO:0016421	Function	CoA carboxylase activity	IBA	21873635
GO:0046872	Function	Metal ion binding	IEA
GO:1905202	Component	Methylcrotonoyl-CoA carboxylase complex	IDA	17360195

Other IDs

• MIM: 609010
• HGNC: 6936
• e!Ensembl: ENSG00000078070

Protein

• UniProt ID: Q96RQ3
• Protein name: Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial (MCCase subunit alpha) (EC 6.4.1.4) (3-methylcrotonyl-CoA carboxylase 1) (3-methylcrotonyl-CoA carboxylase biotin-containing subunit) (3-methylcrotonyl-CoA:carbon dioxide ligase subunit alpha)
• Protein function: Biotin-attachment subunit of the 3-methylcrotonyl-CoA carboxylase, an enzyme that catalyzes the conversion of 3-methylcrotonyl-CoA to 3-methylglutaconyl-CoA, a critical step for leucine and isovaleric acid catabolism. {ECO:0000269|PubMed:1736019
• PDB: 2EJM, 8J4Z, 8J78, 8J7D, 8J99, 8JAK, 8JAW, 8JXL, 8JXM, 8JXN, 8K2V, 8XL6, 8XL7, 8XL8
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00289	Biotin_carb_N	48 → 157	Biotin carboxylase, N-terminal domain	Domain
  PF02786	CPSase_L_D2	163 → 371	Carbamoyl-phosphate synthase L chain, ATP binding domain	Domain
  PF02785	Biotin_carb_C	383 → 491	Biotin carboxylase C-terminal domain	Domain
  PF00364	Biotin_lipoyl	650 → 714	Biotin-requiring enzyme	Domain

• Sequence:

  MAAASAVSVLLVAAERNRWHRLPSLLLPPRTWVWRQRTMKYTTATGRNITKVLIANRGEI
  ACRVMRTAKKLGVQTVAVYSEADRNSMHVDMADEAYSIGPAPSQQSYLSMEKIIQVAKTS
  AAQAIHPGCGFLSENMEFAELCKQEGIIFIGPPPSAIRDMGIKSTSKSIMAAAGVPVVEG
  YHGEDQSDQCLKEHARRIGYPVMIKAVRGGGGKGMRIVRSEQEFQEQLESARREAKKSFN
  DDAMLIEKFVDTPRHVEVQVFGDHHGNAVYLFERDCSVQRRHQKIIEEAPAPGIKSEVRK
  KLGEAAVRAAKAVNYVGAGTVEFIMDSKHNFCFMEMNTRLQVEHPVTEMITGTDLVEWQL
  RIAAGEKIPLSQEEITLQGHAFEARIYAEDPSNNFMPVAGPLVHLSTPRADPSTRIETGV
  RQGDEVSVHYDPMIAKLVVWAADRQAALTKLRYSLRQYNIVGLHTNIDFLLNLSGHPEFE
  AGNVHTDFIPQHHKQLLLSRKAAAKESLCQAALGLILKEKAMTDTFTLQAHDQFSPFSSS
  SGRRLNISYTRNMTLKDGKNNVAIAVTYNHDGSYSMQIEDKTFQVLGNLYSEGDCTYLKC
  SVNGVASKAKLIILENTIYLFSKEGSIEIDIPVPKYLSSVSSQETQGGPLAPMTGTIEKV
  FVKAGDKVKAGDSLMVMIAMKMEHTIKSPKDGTVKKVFYREGAQANRHTPLVEFEEEESD
  KRESE

• Sequence length: 725

Pathways

KEGG:

Valine, leucine and isoleucine degradation
Metabolic pathways

Reactome:

Biotin transport and metabolism
Defective HLCS causes multiple carboxylase deficiency
Branched-chain amino acid catabolism

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
3-methylcrotonyl coa carboxylase deficiency	3-methylcrotonyl CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase deficiency	rs587776533, rs119103219, rs119103220, rs119103221, rs119103222, rs119103223, rs119103224, rs119103225, rs119103226, rs730880265, rs119103212, rs119103213, rs119103214, rs119103215, rs119103216, rs119103217, rs119103218, rs398124350, rs398124372, rs727504010, rs727504001, rs727504002, rs727504005, rs727504006, rs544349961, rs763293192, rs772395858, rs796051986, rs768785753, rs796051985, rs185741664, rs796051989, rs752866557, rs547662164, rs150591260, rs757052602, rs531994517, rs750484977, rs886043524, rs147903984, rs886058209, rs1554134061, rs1553850609, rs199914879, rs764744442, rs762463137, rs1553856095, rs1311374961, rs148773718, rs781559418, rs1554137532, rs1554138549, rs1484347924, rs150862707, rs780011606, rs776641008, rs905321122, rs1553862845, rs762463914, rs1394547323, rs1553854969, rs754460336, rs1554138265, rs1560224024, rs1560256569, rs141030969, rs770769655, rs920162850, rs760881963, rs766753795, rs780304038, rs746267545, rs142507365, rs376289130, rs1577276144, rs1577328234, rs779412317, rs1212517901, rs1580281124, rs1190325113, rs277995, rs1580319814, rs1337201010, rs1191868168, rs771730236, rs1580273474, rs1713693597, rs1182086058, rs774180632, rs1718608300, rs763877330, rs1713695107, rs1713700813	11181649, 25382614, 27601257, 15359379, 14680978, 11170888, 17968484, 22264772, 25356967, 22642865, 24078573, 11406611, 21071250, 16010683, 16835865, 22150417, 24816252
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
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Methylcrotonyl-coa carboxylase deficiency	Methylcrotonyl-CoA carboxylase deficiency	rs119103219, rs119103222, rs119103212, rs119103213, rs119103217, rs727504001, rs727504002, rs544349961, rs772395858, rs768785753, rs185741664, rs547662164, rs150591260, rs757052602, rs886058209, rs199914879, rs764744442, rs148773718, rs780011606, rs754460336, rs1554138265, rs766753795, rs142507365, rs376289130, rs1212517901, rs277995	11170888, 25356967
Parkinson disease	Parkinson Disease	rs116074753, rs118203903, rs118203904, rs115735611, rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432, rs74315361, rs119451946, rs80356771, rs74500255, rs75822236, rs1141814, rs78973108, rs121908681, rs121908686, rs121908687, rs137853054, rs137853055, rs137853056, rs137853057, rs137853058, rs137853059, rs34424986, rs137853060, rs397518439, rs28938172, rs74315351, rs74315353, rs137853051, rs118192098, rs121917767, rs121918104, rs1589451049, rs104893877, rs104893878, rs283413, rs112176450, rs111290936, rs188286943, rs387906863, rs387906864, rs774631197, rs199935023, rs387906942, rs397514694, rs398122403, rs398122404, rs398122405, rs104886460, rs409652, rs431905511, rs63751392, rs756677845, rs864309527, rs864309650, rs750014782, rs1554391082, rs864622011, rs869312810, rs869312809, rs869312811, rs369100678, rs879253853, rs869320761, rs747506979, rs879255630, rs886039854, rs191486604, rs781442277, rs1060499619, rs751037529, rs55777503, rs768091663, rs34208370, rs1553122929, rs772786691, rs754809877, rs1555907463, rs1557561340, rs781600849, rs141263564, rs1557901552, rs777160388, rs756783990, rs867929413, rs1237637353, rs1005937012, rs755000580, rs747427602, rs1578089802, rs771586218, rs748142049, rs1582953433, rs746646126, rs771529549, rs121918106	21738487, 22438815, 21292315, 28011712, 22451204, 28892059, 25064009

Unknown
Disease name	Disease term	dbSNP ID	References
Hepatic steatosis	Acute hepatic steatosis
Hypoglycemia	Hypoglycemia
Ketonuria	Ketonuria
Movement disorders	Movement Disorders