CYP2U1 (cytochrome P450 family 2 subfamily U member 1)

Gene

• Entrez ID: 113612
• Gene name: Cytochrome P450 family 2 subfamily U member 1
• Gene symbol: CYP2U1
• Synonyms: P450TEC, SPG49, SPG56
• Chromosome: 4
• Chromosome location: 4q25
• Summary: This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This enzyme is a h

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019811	hsa-miR-375	Microarray	20215506
MIRT020782	hsa-miR-155-5p	Reporter assay;Other	20584899
MIRT022645	hsa-miR-124-3p	Microarray	18668037
MIRT031184	hsa-miR-19b-3p	Sequencing	20371350
MIRT647217	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT647216	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT647215	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT647214	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT647213	hsa-miR-1200	HITS-CLIP	23824327
MIRT647212	hsa-miR-488-3p	HITS-CLIP	23824327
MIRT647211	hsa-miR-3074-5p	HITS-CLIP	23824327
MIRT647210	hsa-miR-7152-5p	HITS-CLIP	23824327
MIRT647209	hsa-miR-510-3p	HITS-CLIP	23824327
MIRT567867	hsa-miR-3662	PAR-CLIP	20371350
MIRT092955	hsa-miR-497-3p	PAR-CLIP	20371350
MIRT092962	hsa-miR-548aj-5p	PAR-CLIP	20371350
MIRT092958	hsa-miR-548f-5p	PAR-CLIP	20371350
MIRT092959	hsa-miR-548g-5p	PAR-CLIP	20371350
MIRT092960	hsa-miR-548x-5p	PAR-CLIP	20371350
MIRT092957	hsa-miR-1468-3p	PAR-CLIP	20371350
MIRT092954	hsa-miR-19a-3p	PAR-CLIP	20371350
MIRT031184	hsa-miR-19b-3p	PAR-CLIP	20371350
MIRT092964	hsa-miR-548aw	PAR-CLIP	20371350
MIRT211016	hsa-miR-192-3p	PAR-CLIP	20371350
MIRT092955	hsa-miR-497-3p	PAR-CLIP	21572407
MIRT092962	hsa-miR-548aj-5p	PAR-CLIP	21572407
MIRT092958	hsa-miR-548f-5p	PAR-CLIP	21572407
MIRT092959	hsa-miR-548g-5p	PAR-CLIP	21572407
MIRT092960	hsa-miR-548x-5p	PAR-CLIP	21572407
MIRT092957	hsa-miR-1468-3p	PAR-CLIP	21572407
MIRT092954	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT031184	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT558493	hsa-miR-4711-3p	PAR-CLIP	21572407
MIRT092964	hsa-miR-548aw	PAR-CLIP	21572407
MIRT211016	hsa-miR-192-3p	PAR-CLIP	21572407
MIRT647217	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT647216	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT647215	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT647214	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT647213	hsa-miR-1200	HITS-CLIP	23824327
MIRT647212	hsa-miR-488-3p	HITS-CLIP	23824327
MIRT647211	hsa-miR-3074-5p	HITS-CLIP	23824327
MIRT647210	hsa-miR-7152-5p	HITS-CLIP	23824327
MIRT647209	hsa-miR-510-3p	HITS-CLIP	23824327
MIRT567867	hsa-miR-3662	PAR-CLIP	20371350
MIRT092955	hsa-miR-497-3p	PAR-CLIP	20371350
MIRT092962	hsa-miR-548aj-5p	PAR-CLIP	20371350
MIRT092958	hsa-miR-548f-5p	PAR-CLIP	20371350
MIRT092959	hsa-miR-548g-5p	PAR-CLIP	20371350
MIRT092960	hsa-miR-548x-5p	PAR-CLIP	20371350
MIRT092957	hsa-miR-1468-3p	PAR-CLIP	20371350
MIRT092954	hsa-miR-19a-3p	PAR-CLIP	20371350
MIRT031184	hsa-miR-19b-3p	PAR-CLIP	20371350
MIRT092964	hsa-miR-548aw	PAR-CLIP	20371350
MIRT211016	hsa-miR-192-3p	PAR-CLIP	20371350
MIRT092955	hsa-miR-497-3p	PAR-CLIP	21572407
MIRT092962	hsa-miR-548aj-5p	PAR-CLIP	21572407
MIRT092958	hsa-miR-548f-5p	PAR-CLIP	21572407
MIRT092959	hsa-miR-548g-5p	PAR-CLIP	21572407
MIRT092960	hsa-miR-548x-5p	PAR-CLIP	21572407
MIRT092957	hsa-miR-1468-3p	PAR-CLIP	21572407
MIRT092954	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT031184	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT558493	hsa-miR-4711-3p	PAR-CLIP	21572407
MIRT092964	hsa-miR-548aw	PAR-CLIP	21572407
MIRT211016	hsa-miR-192-3p	PAR-CLIP	21572407
MIRT921407	hsa-miR-1238	CLIP-seq
MIRT921408	hsa-miR-181a	CLIP-seq
MIRT921409	hsa-miR-181b	CLIP-seq
MIRT921410	hsa-miR-181c	CLIP-seq
MIRT921411	hsa-miR-181d	CLIP-seq
MIRT921412	hsa-miR-1825	CLIP-seq
MIRT921413	hsa-miR-199a-5p	CLIP-seq
MIRT921414	hsa-miR-199b-5p	CLIP-seq
MIRT921415	hsa-miR-3121-5p	CLIP-seq
MIRT921416	hsa-miR-370	CLIP-seq
MIRT921417	hsa-miR-374a	CLIP-seq
MIRT921418	hsa-miR-374b	CLIP-seq
MIRT921419	hsa-miR-3915	CLIP-seq
MIRT921420	hsa-miR-3928	CLIP-seq
MIRT921421	hsa-miR-4262	CLIP-seq
MIRT921422	hsa-miR-4470	CLIP-seq
MIRT921423	hsa-miR-4476	CLIP-seq
MIRT921424	hsa-miR-4652-3p	CLIP-seq
MIRT921425	hsa-miR-4663	CLIP-seq
MIRT921426	hsa-miR-4778-5p	CLIP-seq
MIRT921427	hsa-miR-4789-5p	CLIP-seq
MIRT921428	hsa-miR-541	CLIP-seq
MIRT921429	hsa-miR-605	CLIP-seq
MIRT921430	hsa-miR-654-5p	CLIP-seq
MIRT1921976	hsa-miR-4659a-3p	CLIP-seq
MIRT1921977	hsa-miR-4659b-3p	CLIP-seq
MIRT1973003	hsa-miR-1208	CLIP-seq
MIRT1973004	hsa-miR-1283	CLIP-seq
MIRT921422	hsa-miR-4470	CLIP-seq
MIRT1921976	hsa-miR-4659a-3p	CLIP-seq
MIRT1921977	hsa-miR-4659b-3p	CLIP-seq
MIRT1973005	hsa-miR-4775	CLIP-seq
MIRT1973006	hsa-miR-515-5p	CLIP-seq
MIRT1973007	hsa-miR-548a-5p	CLIP-seq
MIRT1973008	hsa-miR-548ab	CLIP-seq
MIRT1973009	hsa-miR-548ak	CLIP-seq
MIRT1973010	hsa-miR-548b-5p	CLIP-seq
MIRT1973011	hsa-miR-548c-5p	CLIP-seq
MIRT1973012	hsa-miR-548d-5p	CLIP-seq
MIRT1973013	hsa-miR-548h	CLIP-seq
MIRT1973014	hsa-miR-548i	CLIP-seq
MIRT1973015	hsa-miR-548j	CLIP-seq
MIRT1973016	hsa-miR-548n	CLIP-seq
MIRT1973017	hsa-miR-548w	CLIP-seq
MIRT1973018	hsa-miR-548y	CLIP-seq
MIRT1973019	hsa-miR-559	CLIP-seq
MIRT1973020	hsa-miR-607	CLIP-seq
MIRT1973021	hsa-miR-766	CLIP-seq
MIRT1973022	hsa-miR-942	CLIP-seq
MIRT1973003	hsa-miR-1208	CLIP-seq
MIRT2208640	hsa-miR-124	CLIP-seq
MIRT2208641	hsa-miR-338-3p	CLIP-seq
MIRT921416	hsa-miR-370	CLIP-seq
MIRT921419	hsa-miR-3915	CLIP-seq
MIRT921420	hsa-miR-3928	CLIP-seq
MIRT2208642	hsa-miR-4326	CLIP-seq
MIRT2208643	hsa-miR-4530	CLIP-seq
MIRT921425	hsa-miR-4663	CLIP-seq
MIRT2208644	hsa-miR-4691-5p	CLIP-seq
MIRT2208645	hsa-miR-506	CLIP-seq
MIRT2208646	hsa-miR-508-5p	CLIP-seq
MIRT1973021	hsa-miR-766	CLIP-seq
MIRT2447919	hsa-miR-155	CLIP-seq
MIRT2447920	hsa-miR-2053	CLIP-seq
MIRT2447921	hsa-miR-4424	CLIP-seq
MIRT921425	hsa-miR-4663	CLIP-seq
MIRT2447922	hsa-miR-4682	CLIP-seq
MIRT2447923	hsa-miR-4728-3p	CLIP-seq
MIRT2447924	hsa-miR-569	CLIP-seq
MIRT2512475	hsa-miR-3115	CLIP-seq
MIRT2208641	hsa-miR-338-3p	CLIP-seq
MIRT2512476	hsa-miR-3936	CLIP-seq
MIRT2512477	hsa-miR-4293	CLIP-seq
MIRT2512478	hsa-miR-450b-3p	CLIP-seq
MIRT2208643	hsa-miR-4530	CLIP-seq
MIRT2512479	hsa-miR-4713-3p	CLIP-seq
MIRT2512480	hsa-miR-4786-5p	CLIP-seq
MIRT2208646	hsa-miR-508-5p	CLIP-seq
MIRT2512481	hsa-miR-596	CLIP-seq
MIRT2512482	hsa-miR-638	CLIP-seq
MIRT1973021	hsa-miR-766	CLIP-seq
MIRT2512483	hsa-miR-769-3p	CLIP-seq
MIRT2678976	hsa-miR-135a	CLIP-seq
MIRT2678977	hsa-miR-135b	CLIP-seq
MIRT2512475	hsa-miR-3115	CLIP-seq
MIRT2678978	hsa-miR-3130-5p	CLIP-seq
MIRT2678979	hsa-miR-337-5p	CLIP-seq
MIRT2208641	hsa-miR-338-3p	CLIP-seq
MIRT2512476	hsa-miR-3936	CLIP-seq
MIRT2512477	hsa-miR-4293	CLIP-seq
MIRT2678980	hsa-miR-4464	CLIP-seq
MIRT2678981	hsa-miR-4482	CLIP-seq
MIRT2678982	hsa-miR-4485	CLIP-seq
MIRT2512478	hsa-miR-450b-3p	CLIP-seq
MIRT2208643	hsa-miR-4530	CLIP-seq
MIRT2678983	hsa-miR-4672	CLIP-seq
MIRT2512479	hsa-miR-4713-3p	CLIP-seq
MIRT2678984	hsa-miR-4748	CLIP-seq
MIRT2512480	hsa-miR-4786-5p	CLIP-seq
MIRT2678985	hsa-miR-4797-5p	CLIP-seq
MIRT2208646	hsa-miR-508-5p	CLIP-seq
MIRT2512481	hsa-miR-596	CLIP-seq
MIRT2678986	hsa-miR-606	CLIP-seq
MIRT2512482	hsa-miR-638	CLIP-seq
MIRT1973021	hsa-miR-766	CLIP-seq
MIRT2512483	hsa-miR-769-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004497	Function	Monooxygenase activity	TAS
GO:0005506	Function	Iron ion binding	IEA
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006082	Process	Organic acid metabolic process	IBA	21873635
GO:0006805	Process	Xenobiotic metabolic process	IBA	21873635
GO:0008395	Function	Steroid hydroxylase activity	IBA	21873635
GO:0016021	Component	Integral component of membrane	IEA
GO:0016712	Function	Oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	IBA	21873635
GO:0020037	Function	Heme binding	IBA	21873635
GO:0042738	Process	Exogenous drug catabolic process	IBA	21873635
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA	21873635
GO:0052869	Function	Arachidonic acid omega-hydroxylase activity	IDA	24563460
GO:0097267	Process	Omega-hydroxylase P450 pathway	IDA	24563460
GO:0097267	Process	Omega-hydroxylase P450 pathway	TAS
GO:0102033	Function	Long-chain fatty acid omega-hydroxylase activity	IEA

Other IDs

• MIM: 610670
• HGNC: 20582
• e!Ensembl: ENSG00000155016

Protein

• UniProt ID: Q7Z449
• Protein name: Cytochrome P450 2U1 (Long-chain fatty acid omega-monooxygenase) (EC 1.14.14.80)
• Protein function: A cytochrome P450 monooxygenase involved in the metabolism of arachidonic acid and its conjugates (PubMed:14660610, PubMed:24563460). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00067	p450	101 → 541	Cytochrome P450	Domain

• Sequence:

  MSSPGPSQPPAEDPPWPARLLRAPLGLLRLDPSGGALLLCGLVALLGWSWLRRRRARGIP
  PGPTPWPLVGNFGHVLLPPFLRRRSWLSSRTRAAGIDPSVIGPQVLLAHLARVYGSIFSF
  FIGHYLVVVLSDFHSVREALVQQAEVFSDRPRVPLISIVTKEKGVVFAHYGPVWRQQRKF
  SHSTLRHFGLGKLSLEPKIIEEFKYVKAEMQKHGEDPFCPFSIISNAVSNIICSLCFGQR
  FDYTNSEFKKMLGFMSRGLEICLNSQVLLVNICPWLYYLPFGPFKELRQIEKDITSFLKK
  IIKDHQESLDRENPQDFIDMYLLHMEEERKNNSNSSFDEEYLFYIIGDLFIAGTDTTTNS
  LLWCLLYMSLNPDVQEKVHEEIERVIGANRAPSLTDKAQMPYTEATIMEVQRLTVVVPLA
  IPHMTSENTVLQGYTIPKGTLILPNLWSVHRDPAIWEKPEDFYPNRFLDDQGQLIKKETF
  IPFGIGKRVCMGEQLAKMELFLMFVSLMQSFAFALPEDSKKPLLTGRFGLTLAPHPFNIT
  ISRR

• Sequence length: 544

Pathways

KEGG:

Fatty acid degradation
Arachidonic acid metabolism
Metabolic pathways

Reactome:

Miscellaneous substrates
Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE)
Defective CYP2U1 causes Spastic paraplegia 56, autosomal recessive (SPG56)

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
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
Spastic paraplegia	Spastic Paraplegia, Spastic Paraplegia, Hereditary, SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE, Autosomal recessive spastic paraplegia type 56	rs118204049, rs121918262, rs104894490, rs119476046, rs281865117, rs281865118, rs137853017, rs72554620, rs121908610, rs121908611, rs121908613, rs116171274, rs121434442, rs121434443, rs137852520, rs137852521, rs137852524, rs137852525, rs879253716, rs387906970, rs587776888, rs759947457, rs587776891, rs753426920, rs387907057, rs397514478, rs387907285, rs387907287, rs387907288, rs281865120, rs397514513, rs141431913, rs312262755, rs398123013, rs398123014, rs398122382, rs745744124, rs483352924, rs483352925, rs587777222, rs587779388, rs587783179, rs587783772, rs587784383, rs587784384, rs730882249, rs762947018, rs786204628, rs141315518, rs786204416, rs786204750, rs770866403, rs775059063, rs797044787, rs794729214, rs794729215, rs797045050, rs370828455, rs146262009, rs797045244, rs780247476, rs185246578, rs766773277, rs863224494, rs752669339, rs869320690, rs200737038, rs869312914, rs752283089, rs751713917, rs756205995, rs875989787, rs875989845, rs375817528, rs200440467, rs876661295, rs794727501, rs770285398, rs878854745, rs878854975, rs878855013, rs878855011, rs878855083, rs878853979, rs879255397, rs879255396, rs886039410, rs886039409, rs886039407, rs886039408, rs886039405, rs886039406, rs752598529, rs752059006, rs202199411, rs886041949, rs886041127, rs886042238, rs1057517123, rs747868017, rs1057517294, rs565203731, rs753205260, rs1057517002, rs779338945, rs755186798, rs1057517250, rs1057517060, rs753012964, rs758572409, rs1057516959, rs1057516438, rs145766983, rs1057516689, rs1057516932, rs1057516635, rs1057517366, rs759166250, rs1057517138, rs761089024, rs1057517297, rs1057517311, rs1057516779, rs1057517039, rs1057517285, rs1057516365, rs1057516625, rs1057516987, rs1057516837, rs1057518016, rs1057518880, rs1057518697, rs1057519289, rs1057519290, rs1057519291, rs1057519292, rs1057519293, rs1057521784, rs1060499756, rs1060499771, rs1060502224, rs1060502523, rs371019314, rs1060503431, rs774906736, rs372350326, rs776976178, rs370837940, rs1064793162, rs1064793920, rs1555177629, rs1555394376, rs377445018, rs767024102, rs768176054, rs1557090943, rs1557090161, rs1555178616, rs1555251539, rs754439135, rs1321353475, rs1555186937, rs767871841, rs867249938, rs1440541889, rs1555456727, rs1268722908, rs1557092247, rs1557092248, rs765632065, rs773246271, rs1554380391, rs1554517327, rs200268523, rs1156566314, rs1160357920, rs773182375, rs768366199, rs774809466, rs1555542889, rs915291720, rs1021034246, rs769676029, rs746979262, rs1033093801, rs955142329, rs760559263, rs1557091773, rs1372213267, rs1557091678, rs1402429085, rs1555179091, rs1555179087, rs374128662, rs142209254, rs1553259463, rs1555254256, rs755820725, rs1335804396, rs568176223, rs1555979596, rs780030221, rs1553314978, rs923921184, rs1556840029, rs374894037, rs1553262438, rs1555249362, rs950356390, rs1557091278, rs1557090220, rs1259615333, rs1555249276, rs1555249425, rs1555249479, rs1555249555, rs1555250949, rs1555252349, rs1167474602, rs1175545518, rs1555249648, rs1555249878, rs1400601705, rs1555252086, rs745907077, rs1555249371, rs1555249904, rs1555393393, rs1028098148, rs766711286, rs767164213, rs1470672632, rs1555252184, rs1224762841, rs769329153, rs1555254734, rs1555397331, rs941230062, rs545219731, rs200832994, rs1555250255, rs1240368715, rs1555393338, rs1049504575, rs1485209013, rs868672014, rs1214483973, rs558285072, rs1555398241, rs1186788102, rs981804211, rs935301743, rs1555251822, rs1555255676, rs369459721, rs772400670, rs1558119445, rs759033144, rs1565705251, rs1566055368, rs1566058677, rs1006060877, rs1448182827, rs1569544908, rs754944359, rs754944429, rs1569544723, rs1569285562, rs367916692, rs1566893090, rs1177577061, rs1566881181, rs1569280986, rs1590847310, rs746220436, rs1569281085, rs529495094, rs1563920268, rs1563920252, rs1563920172, rs1563919973, rs1563920000, rs1563920132, rs751568153, rs1569274606, rs1455411788, rs1571908452, rs768640920, rs1578729121, rs1585896928, rs1585808059, rs1588001500, rs1011987148, rs1594915468, rs1594925773, rs1361370524, rs1593121507, rs1365858851, rs1593125341, rs1181477970, rs1593129673, rs1593133395, rs1593133714, rs1593144167, rs1593144544, rs1593144887, rs767435985, rs1593147785, rs994374354, rs1593157923, rs1594900921, rs1594906944, rs1594910045, rs1594913346, rs1594930532, rs1594938339, rs140354725, rs1418885000, rs1603275195, rs1603276234, rs1574077569, rs1603275315, rs1587878722, rs1587879449, rs1593133607, rs770490672, rs1602099961, rs778722037, rs756830713, rs1593121484, rs763869212, rs1594912625, rs1597556143, rs778113360, rs377278120, rs933233143, rs1572337800, rs1573072864, rs1593125290, rs1593126754, rs1593123432, rs1571563769, rs1584514057, rs772704931, rs1587878961, rs1802811311, rs1052410160, rs1298132281, rs748480664, rs139015012, rs1340636078, rs927804920, rs1883405453, rs1883566609, rs1868403104, rs1868480299, rs1868481514, rs1868567420, rs1868626730, rs1868628768, rs1868872666, rs1869006331, rs769212398, rs757179309, rs2039098098, rs2039228359, rs774867891, rs2039613696, rs2039616151, rs2039786680, rs2039997721, rs748149642, rs2040215878, rs760484081, rs1204169977, rs367665974, rs201311640, rs1034820850, rs1930458591, rs1882179247, rs2039758874, rs1885117995, rs1805435464	23176821, 24337409, 23176821

Unknown
Disease name	Disease term	dbSNP ID	References
Hypoplasia of corpus callosum	Hypoplasia of corpus callosum
Impaired cognition	Impaired cognition
Motor delay	Clumsiness - motor delay
Peripheral axonal neuropathy	Peripheral axonal neuropathy	rs202219507, rs529035174, rs758974790, rs70983380, rs761291489, rs1579721449, rs1572614757, rs777077185