LIPT2 (lipoyl(octanoyl) transferase 2)

Gene

• Entrez ID: 387787
• Gene name: Lipoyl(octanoyl) transferase 2
• Gene symbol: LIPT2
• Synonyms (NCBI Gene): -
• Chromosome: 11
• Chromosome location: 11q13.4
• Summary: This gene encodes a mitochondrial protein that catalyzes the transfer of octanoic acid to lipoate-dependent enzymes such as octanoyl-ACP. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1110667	hsa-let-7a	CLIP-seq
MIRT1110668	hsa-let-7b	CLIP-seq
MIRT1110669	hsa-let-7c	CLIP-seq
MIRT1110670	hsa-let-7d	CLIP-seq
MIRT1110671	hsa-let-7e	CLIP-seq
MIRT1110672	hsa-let-7f	CLIP-seq
MIRT1110673	hsa-let-7g	CLIP-seq
MIRT1110674	hsa-let-7i	CLIP-seq
MIRT1110675	hsa-miR-128	CLIP-seq
MIRT1110676	hsa-miR-144	CLIP-seq
MIRT1110677	hsa-miR-202	CLIP-seq
MIRT1110678	hsa-miR-2110	CLIP-seq
MIRT1110679	hsa-miR-24	CLIP-seq
MIRT1110680	hsa-miR-27a	CLIP-seq
MIRT1110681	hsa-miR-27b	CLIP-seq
MIRT1110682	hsa-miR-3140-3p	CLIP-seq
MIRT1110683	hsa-miR-325	CLIP-seq
MIRT1110684	hsa-miR-3647-3p	CLIP-seq
MIRT1110685	hsa-miR-3675-3p	CLIP-seq
MIRT1110686	hsa-miR-3677-5p	CLIP-seq
MIRT1110687	hsa-miR-3921	CLIP-seq
MIRT1110688	hsa-miR-409-3p	CLIP-seq
MIRT1110689	hsa-miR-4271	CLIP-seq
MIRT1110690	hsa-miR-4284	CLIP-seq
MIRT1110691	hsa-miR-4307	CLIP-seq
MIRT1110692	hsa-miR-433	CLIP-seq
MIRT1110693	hsa-miR-4458	CLIP-seq
MIRT1110694	hsa-miR-4500	CLIP-seq
MIRT1110695	hsa-miR-4649-3p	CLIP-seq
MIRT1110696	hsa-miR-4653-5p	CLIP-seq
MIRT1110697	hsa-miR-4725-3p	CLIP-seq
MIRT1110698	hsa-miR-491-5p	CLIP-seq
MIRT1110699	hsa-miR-5096	CLIP-seq
MIRT1110700	hsa-miR-513a-5p	CLIP-seq
MIRT1110701	hsa-miR-628-3p	CLIP-seq
MIRT1110702	hsa-miR-98	CLIP-seq
MIRT1110667	hsa-let-7a	CLIP-seq
MIRT1110668	hsa-let-7b	CLIP-seq
MIRT1110669	hsa-let-7c	CLIP-seq
MIRT1110670	hsa-let-7d	CLIP-seq
MIRT1110671	hsa-let-7e	CLIP-seq
MIRT1110672	hsa-let-7f	CLIP-seq
MIRT1110673	hsa-let-7g	CLIP-seq
MIRT1110674	hsa-let-7i	CLIP-seq
MIRT1110675	hsa-miR-128	CLIP-seq
MIRT1110676	hsa-miR-144	CLIP-seq
MIRT1110677	hsa-miR-202	CLIP-seq
MIRT1110678	hsa-miR-2110	CLIP-seq
MIRT1110680	hsa-miR-27a	CLIP-seq
MIRT1110681	hsa-miR-27b	CLIP-seq
MIRT1110682	hsa-miR-3140-3p	CLIP-seq
MIRT1110683	hsa-miR-325	CLIP-seq
MIRT1110685	hsa-miR-3675-3p	CLIP-seq
MIRT1110687	hsa-miR-3921	CLIP-seq
MIRT1110689	hsa-miR-4271	CLIP-seq
MIRT1110693	hsa-miR-4458	CLIP-seq
MIRT1110694	hsa-miR-4500	CLIP-seq
MIRT1110695	hsa-miR-4649-3p	CLIP-seq
MIRT1110696	hsa-miR-4653-5p	CLIP-seq
MIRT1110697	hsa-miR-4725-3p	CLIP-seq
MIRT1110698	hsa-miR-491-5p	CLIP-seq
MIRT1110699	hsa-miR-5096	CLIP-seq
MIRT1110700	hsa-miR-513a-5p	CLIP-seq
MIRT1110701	hsa-miR-628-3p	CLIP-seq
MIRT1110702	hsa-miR-98	CLIP-seq
MIRT1110667	hsa-let-7a	CLIP-seq
MIRT1110668	hsa-let-7b	CLIP-seq
MIRT1110669	hsa-let-7c	CLIP-seq
MIRT1110670	hsa-let-7d	CLIP-seq
MIRT1110671	hsa-let-7e	CLIP-seq
MIRT1110672	hsa-let-7f	CLIP-seq
MIRT1110673	hsa-let-7g	CLIP-seq
MIRT1110674	hsa-let-7i	CLIP-seq
MIRT1110677	hsa-miR-202	CLIP-seq
MIRT1110678	hsa-miR-2110	CLIP-seq
MIRT2261588	hsa-miR-2115	CLIP-seq
MIRT1110683	hsa-miR-325	CLIP-seq
MIRT1110685	hsa-miR-3675-3p	CLIP-seq
MIRT2261589	hsa-miR-3714	CLIP-seq
MIRT1110687	hsa-miR-3921	CLIP-seq
MIRT1110689	hsa-miR-4271	CLIP-seq
MIRT1110693	hsa-miR-4458	CLIP-seq
MIRT2261590	hsa-miR-4494	CLIP-seq
MIRT1110694	hsa-miR-4500	CLIP-seq
MIRT1110695	hsa-miR-4649-3p	CLIP-seq
MIRT1110696	hsa-miR-4653-5p	CLIP-seq
MIRT2261591	hsa-miR-4722-5p	CLIP-seq
MIRT1110697	hsa-miR-4725-3p	CLIP-seq
MIRT1110698	hsa-miR-491-5p	CLIP-seq
MIRT2261592	hsa-miR-499a-5p	CLIP-seq
MIRT2261593	hsa-miR-516a-3p	CLIP-seq
MIRT1110701	hsa-miR-628-3p	CLIP-seq
MIRT2261594	hsa-miR-940	CLIP-seq
MIRT1110702	hsa-miR-98	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005739	Component	Mitochondrion	IBA	21873635
GO:0005739	Component	Mitochondrion	IDA	28757203
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0009249	Process	Protein lipoylation	IBA	21873635
GO:0009249	Process	Protein lipoylation	IMP	28757203
GO:0016874	Function	Ligase activity	IEA
GO:0018215	Process	Protein phosphopantetheinylation	IEA
GO:0033819	Function	Lipoyl(octanoyl) transferase activity	TAS
GO:0034641	Process	Cellular nitrogen compound metabolic process	TAS
GO:0102555	Function	Octanoyl transferase activity (acting on glycine-cleavage complex H protein)	IEA
GO:2000376	Process	Positive regulation of oxygen metabolic process	IMP	28757203

Other IDs

• MIM: 617659
• HGNC: 37216
• e!Ensembl: ENSG00000175536

Protein

• UniProt ID: A6NK58
• Protein name: Octanoyl-[acyl-carrier-protein]:protein N-octanoyltransferase LIPT2, mitochondrial (Lipoate-protein ligase B) (Lipoyl/octanoyl transferase) (Lipoyltransferase 2) (EC 2.3.1.181) (Octanoyl-[acyl-carrier-protein]-protein N-octanoyltransferase)
• Protein function: Catalyzes the transfer of endogenously produced octanoic acid from octanoyl-acyl-carrier-protein (octanoyl-ACP) onto the lipoyl domains of lipoate-dependent enzymes such as the protein H of the glycine cleavage system (GCSH) (PubMed:28757203). L
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03099	BPL_LplA_LipB	69 → 175	Biotin/lipoate A/B protein ligase family	Domain

• Sequence:

  MRQPAVRLVRLGRVPYAELLGLQDRWLRRLQAEPGIEAPSGTEAGALLLCEPAGPVYTAG
  LRGGLTPEETARLRALGAEVRVTGRGGLATFHGPGQLLCHPVLDLRRLGLRLRMHVASLE
  ACAVRLCELQGLQDARARPPPYTGVWLDDRKICAIGVRCGRHITSHGLALNCSTDLTWFE
  HIVPCGLVGTGVTSLSKELQRHVTVEEVMPPFLVAFKEIYKCTLISEDSPN

• Sequence length: 231

Pathways

KEGG:

Lipoic acid metabolism
Metabolic pathways
Biosynthesis of cofactors

Reactome:

Glyoxylate metabolism and glycine degradation

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Developmental delay	Profound 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
Encephalopathy	ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES	rs118204095, rs118204096, rs118204101, rs118204109, rs118204119, rs28939378, rs121908531, rs28936674, rs80359829, rs80359828, rs80359816, rs80359814, rs2124448824, rs121909739, rs121909740, rs267607061, rs80359818, rs387906935, rs1563989427, rs387907312, rs387907313, rs397514615, rs587784391, rs587784397, rs587784396, rs587784390, rs587784393, rs75485205, rs794729221, rs368311455, rs796053264, rs796053263, rs796053254, rs796053253, rs80359823, rs794727642, rs796053272, rs80359841, rs375169579, rs747753388, rs863224237, rs863223953, rs864309522, rs864321623, rs200659479, rs864321622, rs369160589, rs878853161, rs879253874, rs879255685, rs886037861, rs879255686, rs886037862, rs753829320, rs879255690, rs886039517, rs769525399, rs776095655, rs886041590, rs1057517515, rs1057517477, rs1057517729, rs1057517822, rs1057518953, rs1057518694, rs1057521967, rs1057520545, rs1057521066, rs80359832, rs368458768, rs1131691330, rs539962457, rs1190703859, rs776874412, rs1417315589, rs1553155986, rs1553156053, rs1553156051, rs1553156069, rs1554523224, rs1553157935, rs1553155973, rs1259158687, rs1413339367, rs753161833, rs143595616, rs1285225437, rs1553169629, rs1553169787, rs762366252, rs1553170029, rs1187631754, rs1553169720, rs1479104927, rs1345986424, rs1557646673, rs1565548029, rs80359819, rs1210153519, rs1557646075, rs1570590834, rs1570592933, rs80359812, rs1570593665, rs760398697, rs1570601007, rs1387203768, rs1570592844, rs1570593820, rs1570601060, rs1592661973, rs1570590859, rs1570590905, rs1341055534, rs1570592604, rs201966320, rs1645359135, rs751557097, rs752468216, rs80359824, rs1159593580, rs1677398842	30914295, 28803783, 28757203
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
Lipoyltransferase deficiency	Lipoyl transferase 2 deficiency	rs786205156, rs767568897, rs863224892, rs137891647, rs1468529365
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357

Unknown
Disease term	Disease name	Evidence	References	Source
Spastic tetraparesis	Spastic tetraparesis			ClinVar

Associations from Text Mining
Disease Name	Relationship Type	References
Brain Diseases	Stimulate	38129565
Breast Neoplasms	Associate	36213577
Carcinoma Renal Cell	Associate	38129565
DNA Virus Infections	Associate	38129565
Esophageal Neoplasms	Associate	38159255
Glioblastoma	Stimulate	38129565
Glioma	Stimulate	38129565
Glioma	Associate	40355831
Inflammatory Bowel Diseases	Associate	33588072
Kidney Diseases	Stimulate	38129565
Mental Disorders	Associate	33588072
Neoplasm Metastasis	Associate	38129565
Neoplasms	Stimulate	38129565
Ovarian Diseases	Associate	38129565
Triple Negative Breast Neoplasms	Associate	37259036
Wilms Tumor	Stimulate	38129565