CNPY3 (canopy FGF signaling regulator 3)

Gene

• Entrez ID: 10695
• Gene name: Canopy FGF signaling regulator 3
• Gene symbol: CNPY3
• Synonyms (NCBI Gene): CAG4A, DEE60, EIEE60, ERDA5, PRAT4A, TNRC5
• Disease Acronyms (UniProt): DEE60
• Chromosome: 6
• Chromosome location: 6p21.1
• Summary: This gene encodes a protein that binds members of the toll-like receptor protein family and functions as a chaperone to aid in folding and export of these proteins. Alternative splicing results in multiple transcript variants. Naturally occuring readthrou

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004231	hsa-miR-346	Microarray	16822819
MIRT029859	hsa-miR-26b-5p	Microarray	19088304
MIRT031881	hsa-miR-16-5p	Proteomics	18668040
MIRT901326	hsa-miR-1234	CLIP-seq
MIRT901327	hsa-miR-4722-3p	CLIP-seq
MIRT901328	hsa-miR-4749-3p	CLIP-seq
MIRT901329	hsa-miR-4763-5p	CLIP-seq
MIRT1967385	hsa-miR-1910	CLIP-seq
MIRT1967386	hsa-miR-3126-5p	CLIP-seq
MIRT1967387	hsa-miR-3169	CLIP-seq
MIRT1967388	hsa-miR-3925-3p	CLIP-seq
MIRT1967389	hsa-miR-4283	CLIP-seq
MIRT1967390	hsa-miR-4419a	CLIP-seq
MIRT1967391	hsa-miR-4510	CLIP-seq
MIRT1967392	hsa-miR-4740-5p	CLIP-seq
MIRT1967393	hsa-miR-548q	CLIP-seq
MIRT901326	hsa-miR-1234	CLIP-seq
MIRT1967385	hsa-miR-1910	CLIP-seq
MIRT2203009	hsa-miR-3922-5p	CLIP-seq
MIRT1967389	hsa-miR-4283	CLIP-seq
MIRT2203010	hsa-miR-4457	CLIP-seq
MIRT2203011	hsa-miR-4489	CLIP-seq
MIRT2203012	hsa-miR-4493	CLIP-seq
MIRT2203013	hsa-miR-4682	CLIP-seq
MIRT901327	hsa-miR-4722-3p	CLIP-seq
MIRT901328	hsa-miR-4749-3p	CLIP-seq
MIRT901329	hsa-miR-4763-5p	CLIP-seq
MIRT2203014	hsa-miR-581	CLIP-seq
MIRT2203015	hsa-miR-592	CLIP-seq
MIRT2203016	hsa-miR-599	CLIP-seq
MIRT2505944	hsa-miR-1200	CLIP-seq
MIRT2505945	hsa-miR-1266	CLIP-seq
MIRT2505946	hsa-miR-1289	CLIP-seq
MIRT2505947	hsa-miR-1343	CLIP-seq
MIRT2505948	hsa-miR-185	CLIP-seq
MIRT1967385	hsa-miR-1910	CLIP-seq
MIRT2505949	hsa-miR-1913	CLIP-seq
MIRT2505950	hsa-miR-2110	CLIP-seq
MIRT2505951	hsa-miR-3124-3p	CLIP-seq
MIRT2505952	hsa-miR-3140-5p	CLIP-seq
MIRT2505953	hsa-miR-3150a-3p	CLIP-seq
MIRT2505954	hsa-miR-3153	CLIP-seq
MIRT2505955	hsa-miR-3175	CLIP-seq
MIRT2505956	hsa-miR-3198	CLIP-seq
MIRT2505957	hsa-miR-324-3p	CLIP-seq
MIRT2505958	hsa-miR-3605-5p	CLIP-seq
MIRT2505959	hsa-miR-3614-5p	CLIP-seq
MIRT2505960	hsa-miR-3664-3p	CLIP-seq
MIRT2505961	hsa-miR-377	CLIP-seq
MIRT2505962	hsa-miR-3921	CLIP-seq
MIRT2203009	hsa-miR-3922-5p	CLIP-seq
MIRT1967389	hsa-miR-4283	CLIP-seq
MIRT2505963	hsa-miR-4292	CLIP-seq
MIRT2505964	hsa-miR-4294	CLIP-seq
MIRT2505965	hsa-miR-4306	CLIP-seq
MIRT2505966	hsa-miR-4309	CLIP-seq
MIRT2505967	hsa-miR-4324	CLIP-seq
MIRT2505968	hsa-miR-4417	CLIP-seq
MIRT2505969	hsa-miR-4433	CLIP-seq
MIRT2505970	hsa-miR-4436a	CLIP-seq
MIRT2203010	hsa-miR-4457	CLIP-seq
MIRT2505971	hsa-miR-4459	CLIP-seq
MIRT2203011	hsa-miR-4489	CLIP-seq
MIRT2505972	hsa-miR-4518	CLIP-seq
MIRT2505973	hsa-miR-4644	CLIP-seq
MIRT2505974	hsa-miR-4653-5p	CLIP-seq
MIRT2505975	hsa-miR-4667-3p	CLIP-seq
MIRT2203013	hsa-miR-4682	CLIP-seq
MIRT2505976	hsa-miR-4698	CLIP-seq
MIRT2505977	hsa-miR-4711-3p	CLIP-seq
MIRT2505978	hsa-miR-4728-5p	CLIP-seq
MIRT901328	hsa-miR-4749-3p	CLIP-seq
MIRT901329	hsa-miR-4763-5p	CLIP-seq
MIRT2505979	hsa-miR-4768-3p	CLIP-seq
MIRT2505980	hsa-miR-502-5p	CLIP-seq
MIRT2505981	hsa-miR-511	CLIP-seq
MIRT2505982	hsa-miR-544b	CLIP-seq
MIRT2203014	hsa-miR-581	CLIP-seq
MIRT2203015	hsa-miR-592	CLIP-seq
MIRT2203016	hsa-miR-599	CLIP-seq
MIRT2505983	hsa-miR-660	CLIP-seq
MIRT2505984	hsa-miR-760	CLIP-seq
MIRT2505985	hsa-miR-939	CLIP-seq
MIRT2505944	hsa-miR-1200	CLIP-seq
MIRT2505946	hsa-miR-1289	CLIP-seq
MIRT2505947	hsa-miR-1343	CLIP-seq
MIRT2505948	hsa-miR-185	CLIP-seq
MIRT1967385	hsa-miR-1910	CLIP-seq
MIRT2505949	hsa-miR-1913	CLIP-seq
MIRT2505950	hsa-miR-2110	CLIP-seq
MIRT2505951	hsa-miR-3124-3p	CLIP-seq
MIRT2505952	hsa-miR-3140-5p	CLIP-seq
MIRT2505953	hsa-miR-3150a-3p	CLIP-seq
MIRT2505954	hsa-miR-3153	CLIP-seq
MIRT2505955	hsa-miR-3175	CLIP-seq
MIRT2505956	hsa-miR-3198	CLIP-seq
MIRT2505957	hsa-miR-324-3p	CLIP-seq
MIRT2505959	hsa-miR-3614-5p	CLIP-seq
MIRT2505961	hsa-miR-377	CLIP-seq
MIRT2505962	hsa-miR-3921	CLIP-seq
MIRT2203009	hsa-miR-3922-5p	CLIP-seq
MIRT1967389	hsa-miR-4283	CLIP-seq
MIRT2505963	hsa-miR-4292	CLIP-seq
MIRT2505964	hsa-miR-4294	CLIP-seq
MIRT2505965	hsa-miR-4306	CLIP-seq
MIRT2505966	hsa-miR-4309	CLIP-seq
MIRT2505967	hsa-miR-4324	CLIP-seq
MIRT2505968	hsa-miR-4417	CLIP-seq
MIRT2505969	hsa-miR-4433	CLIP-seq
MIRT2203010	hsa-miR-4457	CLIP-seq
MIRT2505971	hsa-miR-4459	CLIP-seq
MIRT2203011	hsa-miR-4489	CLIP-seq
MIRT2505973	hsa-miR-4644	CLIP-seq
MIRT2505974	hsa-miR-4653-5p	CLIP-seq
MIRT2505975	hsa-miR-4667-3p	CLIP-seq
MIRT2203013	hsa-miR-4682	CLIP-seq
MIRT2505976	hsa-miR-4698	CLIP-seq
MIRT2505977	hsa-miR-4711-3p	CLIP-seq
MIRT2505978	hsa-miR-4728-5p	CLIP-seq
MIRT901328	hsa-miR-4749-3p	CLIP-seq
MIRT901329	hsa-miR-4763-5p	CLIP-seq
MIRT2505979	hsa-miR-4768-3p	CLIP-seq
MIRT2505980	hsa-miR-502-5p	CLIP-seq
MIRT2505981	hsa-miR-511	CLIP-seq
MIRT2505982	hsa-miR-544b	CLIP-seq
MIRT2203014	hsa-miR-581	CLIP-seq
MIRT2203015	hsa-miR-592	CLIP-seq
MIRT2203016	hsa-miR-599	CLIP-seq
MIRT2505983	hsa-miR-660	CLIP-seq
MIRT2505984	hsa-miR-760	CLIP-seq
MIRT2505985	hsa-miR-939	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002224	Process	Toll-like receptor signaling pathway	TAS
GO:0005102	Function	Signaling receptor binding	IBA	21873635
GO:0005515	Function	Protein binding	IPI	32296183, 32814053
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0045087	Process	Innate immune response	IEA

Other IDs

• MIM: 610774
• HGNC: 11968
• e!Ensembl: ENSG00000137161

Protein

• UniProt ID: Q9BT09
• Protein name: Protein canopy homolog 3 (CTG repeat protein 4a) (Expanded repeat-domain protein CAG/CTG 5) (Protein associated with TLR4) (Trinucleotide repeat-containing gene 5 protein)
• Protein function: Toll-like receptor (TLR)-specific co-chaperone for HSP90B1. Required for proper TLR folding, except that of TLR3, and hence controls TLR exit from the endoplasmic reticulum. Consequently, required for both innate and adaptive immune responses (B
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF11938	DUF3456	48 → 206	TLR4 regulator and MIR-interacting MSAP	Family

• Sequence:

  MDSMPEPASRCLLLLPLLLLLLLLLPAPELGPSQAGAEENDWVRLPSKCEVCKYVAVELK
  SAFEETGKTKEVIGTGYGILDQKASGVKYTKSDLRLIEVTETICKRLLDYSLHKERTGSN
  RFAKGMSETFETLHNLVHKGVKVVMDIPYELWNETSAEVADLKKQCDVLVEEFEEVIEDW
  YRNHQEEDLTEFLCANHVLKGKDTSCLAEQWSGKKGDTAALGGKKSKKKSSRAKAAGGRS
  SSSKQRKELGGLEGDPSPEEDEGIQKASPLTHSPPDEL

• Sequence length: 278

Pathways

Reactome:

Trafficking and processing of endosomal TLR

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Developmental regression	Developmental regression	rs1224421127
Epileptic encephalopathy	Epileptic encephalopathy, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 60	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	29394991
West syndrome	West Syndrome	rs267606715, rs267608421, rs727503974, rs786205598, rs794727152, rs796053134, rs796053162, rs1057517854, rs267608618, rs1555952078, rs1555954752, rs749975104	29394991

Unknown
Disease term	Disease name	Evidence	References	Source
Infantile Spasms	infantile spasms			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Asthma Aspirin Induced	Associate	26646719
Brain Diseases	Associate	35334124
Carcinogenesis	Associate	40171811
Glioma	Associate	40171811
Hypoxia	Associate	29180379
Infantile Epileptic Dyskinetic Encephalopathy	Associate	35334124
Inflammation	Associate	35334124, 40171811
Kidney Failure Chronic	Associate	30212930
Neoplasms	Associate	40171811