PCYT2 (phosphate cytidylyltransferase 2, ethanolamine)

Gene

• Entrez ID: 5833
• Gene name: Phosphate cytidylyltransferase 2, ethanolamine
• Gene symbol: PCYT2
• Synonyms (NCBI Gene): ET, SPG82
• Disease Acronyms (UniProt): SPG82
• Chromosome: 17
• Chromosome location: 17q25.3
• Summary: This gene encodes an enzyme that catalyzes the formation of CDP-ethanolamine from CTP and phosphoethanolamine in the Kennedy pathway of phospholipid synthesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs377278120	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs778113360	G>A,T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1204173741	G>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017368	hsa-miR-335-5p	Microarray	18185580
MIRT052191	hsa-let-7b-5p	CLASH	23622248
MIRT720608	hsa-miR-4726-3p	HITS-CLIP	19536157
MIRT720607	hsa-miR-6789-3p	HITS-CLIP	19536157
MIRT720606	hsa-miR-566	HITS-CLIP	19536157
MIRT572354	hsa-miR-1911-3p	PAR-CLIP	20371350
MIRT572352	hsa-miR-4742-5p	PAR-CLIP	20371350
MIRT572353	hsa-miR-4645-5p	PAR-CLIP	20371350
MIRT572351	hsa-miR-4673	PAR-CLIP	20371350
MIRT572350	hsa-miR-4285	PAR-CLIP	20371350
MIRT572348	hsa-miR-4786-5p	PAR-CLIP	20371350
MIRT572349	hsa-miR-3960	PAR-CLIP	20371350
MIRT572347	hsa-miR-8072	PAR-CLIP	20371350
MIRT525703	hsa-miR-7108-3p	PAR-CLIP	22012620
MIRT525702	hsa-miR-1292-3p	PAR-CLIP	22012620
MIRT525701	hsa-miR-3130-3p	PAR-CLIP	22012620
MIRT525700	hsa-miR-4707-3p	PAR-CLIP	22012620
MIRT525699	hsa-miR-4632-3p	PAR-CLIP	22012620
MIRT720608	hsa-miR-4726-3p	HITS-CLIP	19536157
MIRT720607	hsa-miR-6789-3p	HITS-CLIP	19536157
MIRT720606	hsa-miR-566	HITS-CLIP	19536157
MIRT572354	hsa-miR-1911-3p	PAR-CLIP	20371350
MIRT572352	hsa-miR-4742-5p	PAR-CLIP	20371350
MIRT572353	hsa-miR-4645-5p	PAR-CLIP	20371350
MIRT572351	hsa-miR-4673	PAR-CLIP	20371350
MIRT572350	hsa-miR-4285	PAR-CLIP	20371350
MIRT572348	hsa-miR-4786-5p	PAR-CLIP	20371350
MIRT572349	hsa-miR-3960	PAR-CLIP	20371350
MIRT572347	hsa-miR-8072	PAR-CLIP	20371350
MIRT525703	hsa-miR-7108-3p	PAR-CLIP	22012620
MIRT525702	hsa-miR-1292-3p	PAR-CLIP	22012620
MIRT525701	hsa-miR-3130-3p	PAR-CLIP	22012620
MIRT525700	hsa-miR-4707-3p	PAR-CLIP	22012620
MIRT525699	hsa-miR-4632-3p	PAR-CLIP	22012620
MIRT1218972	hsa-miR-1	CLIP-seq
MIRT1218973	hsa-miR-1278	CLIP-seq
MIRT1218974	hsa-miR-206	CLIP-seq
MIRT1218975	hsa-miR-299-3p	CLIP-seq
MIRT1218976	hsa-miR-3151	CLIP-seq
MIRT1218977	hsa-miR-4283	CLIP-seq
MIRT1218978	hsa-miR-4447	CLIP-seq
MIRT1218979	hsa-miR-4472	CLIP-seq
MIRT1218980	hsa-miR-4489	CLIP-seq
MIRT1218981	hsa-miR-4656	CLIP-seq
MIRT1218982	hsa-miR-491-5p	CLIP-seq
MIRT1218983	hsa-miR-548k	CLIP-seq
MIRT1218984	hsa-miR-548n	CLIP-seq
MIRT1218985	hsa-miR-613	CLIP-seq
MIRT1218986	hsa-miR-1287	CLIP-seq
MIRT1218987	hsa-miR-1343	CLIP-seq
MIRT1218988	hsa-miR-146a	CLIP-seq
MIRT1218989	hsa-miR-146b-5p	CLIP-seq
MIRT1218990	hsa-miR-1587	CLIP-seq
MIRT1218991	hsa-miR-185	CLIP-seq
MIRT1218992	hsa-miR-1912	CLIP-seq
MIRT1218993	hsa-miR-1972	CLIP-seq
MIRT1218994	hsa-miR-198	CLIP-seq
MIRT1218995	hsa-miR-3135b	CLIP-seq
MIRT1218996	hsa-miR-3144-5p	CLIP-seq
MIRT1218997	hsa-miR-3169	CLIP-seq
MIRT1218998	hsa-miR-3613-5p	CLIP-seq
MIRT1218999	hsa-miR-3618	CLIP-seq
MIRT1219000	hsa-miR-3650	CLIP-seq
MIRT1219001	hsa-miR-3667-3p	CLIP-seq
MIRT1219002	hsa-miR-378g	CLIP-seq
MIRT1219003	hsa-miR-3919	CLIP-seq
MIRT1219004	hsa-miR-3925-5p	CLIP-seq
MIRT1219005	hsa-miR-4257	CLIP-seq
MIRT1219006	hsa-miR-4297	CLIP-seq
MIRT1219007	hsa-miR-4306	CLIP-seq
MIRT1219008	hsa-miR-4311	CLIP-seq
MIRT1219009	hsa-miR-4438	CLIP-seq
MIRT1218978	hsa-miR-4447	CLIP-seq
MIRT1218979	hsa-miR-4472	CLIP-seq
MIRT1219010	hsa-miR-4488	CLIP-seq
MIRT1219011	hsa-miR-4492	CLIP-seq
MIRT1219012	hsa-miR-4498	CLIP-seq
MIRT1219013	hsa-miR-4515	CLIP-seq
MIRT1219014	hsa-miR-4632	CLIP-seq
MIRT1219015	hsa-miR-4644	CLIP-seq
MIRT1218981	hsa-miR-4656	CLIP-seq
MIRT1219016	hsa-miR-4675	CLIP-seq
MIRT1219017	hsa-miR-4697-5p	CLIP-seq
MIRT1219018	hsa-miR-4717-5p	CLIP-seq
MIRT1219019	hsa-miR-4741	CLIP-seq
MIRT1219020	hsa-miR-4755-3p	CLIP-seq
MIRT1219021	hsa-miR-541	CLIP-seq
MIRT1219022	hsa-miR-601	CLIP-seq
MIRT1219023	hsa-miR-654-5p	CLIP-seq
MIRT1219024	hsa-miR-762	CLIP-seq
MIRT1219025	hsa-miR-765	CLIP-seq
MIRT1219026	hsa-miR-885-3p	CLIP-seq
MIRT1219010	hsa-miR-4488	CLIP-seq
MIRT2063349	hsa-miR-4511	CLIP-seq
MIRT1219017	hsa-miR-4697-5p	CLIP-seq
MIRT1219020	hsa-miR-4755-3p	CLIP-seq
MIRT2063350	hsa-miR-548b-3p	CLIP-seq
MIRT2291782	hsa-miR-2682	CLIP-seq
MIRT2291783	hsa-miR-4269	CLIP-seq
MIRT2291784	hsa-miR-449c	CLIP-seq
MIRT2291785	hsa-miR-485-5p	CLIP-seq
MIRT2291786	hsa-miR-940	CLIP-seq
MIRT2589466	hsa-miR-1225-3p	CLIP-seq
MIRT2589467	hsa-miR-3064-5p	CLIP-seq
MIRT1218995	hsa-miR-3135b	CLIP-seq
MIRT2589468	hsa-miR-331-3p	CLIP-seq
MIRT1219001	hsa-miR-3667-3p	CLIP-seq
MIRT1219006	hsa-miR-4297	CLIP-seq
MIRT2589469	hsa-miR-604	CLIP-seq
MIRT2589470	hsa-miR-647	CLIP-seq
MIRT2589466	hsa-miR-1225-3p	CLIP-seq
MIRT2589467	hsa-miR-3064-5p	CLIP-seq
MIRT1218995	hsa-miR-3135b	CLIP-seq
MIRT2589468	hsa-miR-331-3p	CLIP-seq
MIRT1219001	hsa-miR-3667-3p	CLIP-seq
MIRT1219006	hsa-miR-4297	CLIP-seq
MIRT2589469	hsa-miR-604	CLIP-seq
MIRT2589470	hsa-miR-647	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
NFKB1	Unknown	18583706
RELA	Unknown	18583706

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004306	Function	Ethanolamine-phosphate cytidylyltransferase activity	IMP	31637422
GO:0004306	Function	Ethanolamine-phosphate cytidylyltransferase activity	TAS	9083101
GO:0005515	Function	Protein binding	IPI	32296183, 32814053
GO:0005575	Component	Cellular_component	ND
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006646	Process	Phosphatidylethanolamine biosynthetic process	IEA
GO:0006646	Process	Phosphatidylethanolamine biosynthetic process	IMP	31637422
GO:0006646	Process	Phosphatidylethanolamine biosynthetic process	TAS
GO:0008654	Process	Phospholipid biosynthetic process	TAS	9083101

Other IDs

• MIM: 602679
• HGNC: 8756
• e!Ensembl: ENSG00000185813

Protein

• UniProt ID: Q99447
• Protein name: Ethanolamine-phosphate cytidylyltransferase (EC 2.7.7.14) (CTP:phosphoethanolamine cytidylyltransferase) (Phosphorylethanolamine transferase)
• Protein function: Ethanolamine-phosphate cytidylyltransferase that catalyzes the second step in the synthesis of phosphatidylethanolamine (PE) from ethanolamine via the CDP-ethanolamine pathway (PubMed:31637422, PubMed:9083101). Phosphatidylethanolamine is a domi
• PDB: 3ELB, 4XSV
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01467	CTP_transf_like	26 → 152	Cytidylyltransferase-like	Domain
  PF01467	CTP_transf_like	217 → 333	Cytidylyltransferase-like	Domain

• Tissue specificity: TISSUE SPECIFICITY: Strongest expression in liver, heart, and skeletal muscle. {ECO:0000269|PubMed:9083101}.
• Sequence:

  MIRNGRGAAGGAEQPGPGGRRAVRVWCDGCYDMVHYGHSNQLRQARAMGDYLIVGVHTDE
  EIAKHKGPPVFTQEERYKMVQAIKWVDEVVPAAPYVTTLETLDKYNCDFCVHGNDITLTV
  DGRDTYEEVKQAGRYRECKRTQGVSTTDLVGRMLLVTKAHHSSQEMSSEYREYADSFGKC
  PGGRNPWTGVSQFLQTSQKIIQFASGKEPQPGETVIYVAGAFDLFHIGHVDFLEKVHRLA
  ERPYIIAGLHFDQEVNHYKGKNYPIMNLHERTLSVLACRYVSEVVIGAPYAVTAELLSHF
  KVDLVCHGKTEIIPDRDGSDPYQEPKRRGIFRQIDSGSNLTTDLIVQRIITNRLEYEARN
  QKKEAKELAFLEAARQQAAQPLGERDGDF

• Sequence length: 389

Pathways

KEGG:

Phosphonate and phosphinate metabolism
Glycerophospholipid metabolism
Metabolic pathways

Reactome:

Synthesis of PE

Associated diseases

Causal
Disease term	Disease name	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	22764088, 31637422
Developmental regression	Developmental regression	rs1224421127	31637422, 22764088
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	22764088, 31637422

Unknown
Disease term	Disease name	Evidence	References	Source
Spastic tetraparesis	Spastic tetraparesis		31637422, 22764088	ClinVar
Spastic Paraplegia	spastic paraplegia 82, autosomal recessive			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Carcinoma Squamous Cell	Inhibit	38157930
Insulin Resistance	Associate	29986096
Testicular Germ Cell Tumor	Associate	34621245