EML1 (EMAP like 1)

Gene

• Entrez ID: 2009
• Gene name: EMAP like 1
• Gene symbol: EML1
• Synonyms (NCBI Gene): BH, ELP79, EMAP, EMAP-1, EMAPL
• Disease Acronyms (UniProt): BH
• Chromosome: 14
• Chromosome location: 14q32.2
• Summary: Human echinoderm microtubule-associated protein-like is a strong candidate for the Usher syndrome type 1A gene. Usher syndromes (USHs) are a group of genetic disorders consisting of congenital deafness, retinitis pigmentosa, and vestibular dysfunction of

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs886037935	C>A,T	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained, synonymous variant
rs886037936	A>G	Pathogenic	Coding sequence variant, missense variant
rs886037937	T>C	Pathogenic	Coding sequence variant, missense variant
rs1555404109	C>T	Pathogenic	Stop gained, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT023114	hsa-miR-124-3p	Microarray	18668037
MIRT024499	hsa-miR-215-5p	Microarray	19074876
MIRT026844	hsa-miR-192-5p	Microarray	19074876
MIRT046216	hsa-miR-27b-3p	CLASH	23622248
MIRT046216	hsa-miR-27b-3p	CLASH	23622248
MIRT036360	hsa-miR-1229-3p	CLASH	23622248
MIRT036360	hsa-miR-1229-3p	CLASH	23622248
MIRT962056	hsa-miR-3611	CLIP-seq
MIRT962057	hsa-miR-377	CLIP-seq
MIRT962058	hsa-miR-4272	CLIP-seq
MIRT962059	hsa-miR-4455	CLIP-seq
MIRT962060	hsa-miR-4709-3p	CLIP-seq
MIRT962061	hsa-miR-4795-3p	CLIP-seq
MIRT962062	hsa-miR-513a-3p	CLIP-seq
MIRT962063	hsa-miR-592	CLIP-seq
MIRT962064	hsa-miR-597	CLIP-seq
MIRT962065	hsa-miR-600	CLIP-seq
MIRT962066	hsa-miR-609	CLIP-seq
MIRT962067	hsa-miR-892a	CLIP-seq
MIRT962068	hsa-miR-128	CLIP-seq
MIRT962069	hsa-miR-181a	CLIP-seq
MIRT962070	hsa-miR-181b	CLIP-seq
MIRT962071	hsa-miR-181c	CLIP-seq
MIRT962072	hsa-miR-181d	CLIP-seq
MIRT962073	hsa-miR-2355-5p	CLIP-seq
MIRT962074	hsa-miR-27a	CLIP-seq
MIRT962075	hsa-miR-27b	CLIP-seq
MIRT962076	hsa-miR-300	CLIP-seq
MIRT962077	hsa-miR-345	CLIP-seq
MIRT962078	hsa-miR-381	CLIP-seq
MIRT962079	hsa-miR-4256	CLIP-seq
MIRT962080	hsa-miR-4262	CLIP-seq
MIRT962081	hsa-miR-4282	CLIP-seq
MIRT962082	hsa-miR-4666-3p	CLIP-seq
MIRT962083	hsa-miR-4699-5p	CLIP-seq
MIRT962084	hsa-miR-4762-3p	CLIP-seq
MIRT962085	hsa-miR-494	CLIP-seq
MIRT962086	hsa-miR-548c-3p	CLIP-seq
MIRT962087	hsa-miR-556-3p	CLIP-seq
MIRT962088	hsa-miR-601	CLIP-seq
MIRT1985061	hsa-miR-1200	CLIP-seq
MIRT1985062	hsa-miR-1205	CLIP-seq
MIRT1985063	hsa-miR-1245	CLIP-seq
MIRT962068	hsa-miR-128	CLIP-seq
MIRT962074	hsa-miR-27a	CLIP-seq
MIRT962075	hsa-miR-27b	CLIP-seq
MIRT1985064	hsa-miR-3074-5p	CLIP-seq
MIRT1985065	hsa-miR-3117-3p	CLIP-seq
MIRT1985066	hsa-miR-3127-5p	CLIP-seq
MIRT1985067	hsa-miR-3182	CLIP-seq
MIRT1985068	hsa-miR-3616-3p	CLIP-seq
MIRT1985069	hsa-miR-3616-5p	CLIP-seq
MIRT1985070	hsa-miR-3647-5p	CLIP-seq
MIRT1985071	hsa-miR-3918	CLIP-seq
MIRT1985072	hsa-miR-421	CLIP-seq
MIRT1985073	hsa-miR-4324	CLIP-seq
MIRT1985074	hsa-miR-4328	CLIP-seq
MIRT1985075	hsa-miR-4462	CLIP-seq
MIRT1985076	hsa-miR-4464	CLIP-seq
MIRT1985077	hsa-miR-4470	CLIP-seq
MIRT1985078	hsa-miR-4639-3p	CLIP-seq
MIRT962060	hsa-miR-4709-3p	CLIP-seq
MIRT1985079	hsa-miR-4709-5p	CLIP-seq
MIRT1985080	hsa-miR-4711-3p	CLIP-seq
MIRT1985081	hsa-miR-4748	CLIP-seq
MIRT1985082	hsa-miR-4795-5p	CLIP-seq
MIRT1985083	hsa-miR-544b	CLIP-seq
MIRT1985084	hsa-miR-548ag	CLIP-seq
MIRT1985085	hsa-miR-548ai	CLIP-seq
MIRT1985086	hsa-miR-573	CLIP-seq
MIRT1985087	hsa-miR-651	CLIP-seq
MIRT1985088	hsa-miR-658	CLIP-seq
MIRT1985061	hsa-miR-1200	CLIP-seq
MIRT2219873	hsa-miR-2115	CLIP-seq
MIRT1985064	hsa-miR-3074-5p	CLIP-seq
MIRT1985067	hsa-miR-3182	CLIP-seq
MIRT2219874	hsa-miR-331-3p	CLIP-seq
MIRT1985073	hsa-miR-4324	CLIP-seq
MIRT1985074	hsa-miR-4328	CLIP-seq
MIRT1985076	hsa-miR-4464	CLIP-seq
MIRT2219875	hsa-miR-4502	CLIP-seq
MIRT1985078	hsa-miR-4639-3p	CLIP-seq
MIRT1985081	hsa-miR-4748	CLIP-seq
MIRT962062	hsa-miR-513a-3p	CLIP-seq
MIRT2219876	hsa-miR-516a-3p	CLIP-seq
MIRT1985083	hsa-miR-544b	CLIP-seq
MIRT2219877	hsa-miR-885-5p	CLIP-seq
MIRT2436959	hsa-miR-219-2-3p	CLIP-seq
MIRT2436960	hsa-miR-2964a-3p	CLIP-seq
MIRT2436961	hsa-miR-302f	CLIP-seq
MIRT962061	hsa-miR-4795-3p	CLIP-seq
MIRT962065	hsa-miR-600	CLIP-seq
MIRT2523555	hsa-miR-10a	CLIP-seq
MIRT2523556	hsa-miR-10b	CLIP-seq
MIRT2523557	hsa-miR-1183	CLIP-seq
MIRT2523558	hsa-miR-1468	CLIP-seq
MIRT2523559	hsa-miR-3177-5p	CLIP-seq
MIRT2523560	hsa-miR-370	CLIP-seq
MIRT2523561	hsa-miR-3912	CLIP-seq
MIRT2523562	hsa-miR-4711-5p	CLIP-seq
MIRT2523563	hsa-miR-4715-3p	CLIP-seq
MIRT2523564	hsa-miR-614	CLIP-seq
MIRT2523555	hsa-miR-10a	CLIP-seq
MIRT2523556	hsa-miR-10b	CLIP-seq
MIRT2679985	hsa-miR-1258	CLIP-seq
MIRT2679986	hsa-miR-223	CLIP-seq
MIRT2523559	hsa-miR-3177-5p	CLIP-seq
MIRT1985069	hsa-miR-3616-5p	CLIP-seq
MIRT1985070	hsa-miR-3647-5p	CLIP-seq
MIRT2523560	hsa-miR-370	CLIP-seq
MIRT2679987	hsa-miR-3978	CLIP-seq
MIRT2679988	hsa-miR-4261	CLIP-seq
MIRT2679989	hsa-miR-4266	CLIP-seq
MIRT2679990	hsa-miR-4738-3p	CLIP-seq
MIRT1985086	hsa-miR-573	CLIP-seq
MIRT2523564	hsa-miR-614	CLIP-seq
MIRT2679991	hsa-miR-890	CLIP-seq
MIRT2679992	hsa-miR-935	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000226	Process	Microtubule cytoskeleton organization	IBA	21873635
GO:0000226	Process	Microtubule cytoskeleton organization	ISS
GO:0005509	Function	Calcium ion binding	NAS	9226380
GO:0005515	Function	Protein binding	IPI	16189514, 19060904, 32814053
GO:0005829	Component	Cytosol	ISS
GO:0005874	Component	Microtubule	IEA
GO:0005875	Component	Microtubule associated complex	TAS	9226380
GO:0007052	Process	Mitotic spindle organization	ISS
GO:0007405	Process	Neuroblast proliferation	ISS
GO:0007420	Process	Brain development	IMP	24859200
GO:0007420	Process	Brain development	ISS
GO:0008017	Function	Microtubule binding	IBA	21873635
GO:0008017	Function	Microtubule binding	IMP	24859200
GO:0008017	Function	Microtubule binding	ISS
GO:0015630	Component	Microtubule cytoskeleton	IDA	24859200
GO:0015631	Function	Tubulin binding	IDA	24706829
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0072686	Component	Mitotic spindle	IBA	21873635
GO:0097431	Component	Mitotic spindle pole	ISS
GO:1990023	Component	Mitotic spindle midzone	ISS

Other IDs

• MIM: 602033
• HGNC: 3330
• e!Ensembl: ENSG00000066629

Protein

• UniProt ID: O00423
• Protein name: Echinoderm microtubule-associated protein-like 1 (EMAP-1) (HuEMAP-1)
• Protein function: Modulates the assembly and organization of the microtubule cytoskeleton, and probably plays a role in regulating the orientation of the mitotic spindle and the orientation of the plane of cell division. Required for normal proliferation of neuro
• PDB: 4CI8
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03451	HELP	185 → 259	HELP motif	Family
  PF00400	WD40	261 → 309	WD domain, G-beta repeat	Repeat
  PF00400	WD40	615 → 653	WD domain, G-beta repeat	Repeat
  PF00400	WD40	662 → 700	WD domain, G-beta repeat	Repeat
  PF00400	WD40	774 → 813	WD domain, G-beta repeat	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous; expressed in most tissues with the exception of thymus and peripheral blood lymphocytes. {ECO:0000269|PubMed:10521658}.
• Sequence:

  MEDGFSSYSSLYDTSSLLQFCNDDSASAASSMEVTDRIASLEQRVQMQEDDIQLLKSALA
  DVVRRLNITEEQQAVLNRKGPTKARPLMQTLPLRTTVNNGTVLPKKPTGSLPSPSGVRKE
  TAVPATKSNIKRTSSSERVSPGGRRESNGDSRGNRNRTGSTSSSSSGKKNSESKPKEPVF
  SAEEGYVKMFLRGRPVTMYMPKDQVDSYSLEAKVELPTKRLKLEWVYGYRGRDCRNNLYL
  LPTGETVYFIASVVVLYNVEEQLQRHYAGHNDDVKCLAVHPDRITIATGQVAGTSKDGKQ
  LPPHVRIWDSVTLNTLHVIGIGFFDRAVTCIAFSKSNGGTNLCAVDDSNDHVLSVWDWQK
  EEKLADVKCSNEAVFAADFHPTDTNIIVTCGKSHLYFWTLEGSSLNKKQGLFEKQEKPKF
  VLCVTFSENGDTITGDSSGNILVWGKGTNRISYAVQGAHEGGIFALCMLRDGTLVSGGGK
  DRKLISWSGNYQKLRKTEIPEQFGPIRTVAEGKGDVILIGTTRNFVLQGTLSGDFTPITQ
  GHTDELWGLAIHASKSQFLTCGHDKHATLWDAVGHRPVWDKIIEDPAQSSGFHPSGSVVA
  VGTLTGRWFVFDTETKDLVTVHTDGNEQLSVMRYSPDGNFLAIGSHDNCIYIYGVSDNGR
  KYTRVGKCSGHSSFITHLDWSVNSQFLVSNSGDYEILYWVPSACKQVVSVETTRDIEWAT
  YTCTLGFHVFGVWPEGSDGTDINAVCRAHEKKLLSTGDDFGKVHLFSYPCSQFRAPSHIY
  GGHSSHVTNVDFLCEDSHLISTGGKDTSIMQWRVI

• Sequence length: 815

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Agenesis of corpus callosum	Agenesis of corpus callosum	rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Band heterotopia of brain	Band Heterotopia of Brain	rs886037935, rs886037936, rs886037937, rs1555404109
Coronary artery disease	Coronary Artery Disease	rs137852988, rs121918313, rs121918529, rs121918531, rs137852340, rs1555800701, rs1215189537	29212778
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
Hydrocephalus	Hydrocephalus	rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Mental retardation	Severe 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
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
Polymicrogyria	Polymicrogyria	rs1558010146, rs1558003446, rs1575508937
Subcortical band heterotopia	Subcortical Band Heterotopia	rs121434484, rs121434488, rs121434489	24859200

Unknown
Disease term	Disease name	Evidence	References	Source
Mental depression	Major Depressive Disorder		30219690	ClinVar
Subcortical Band Heterotopia	subcortical band heterotopia			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Ciliary Motility Disorders	Associate	34211111
Classical Lissencephalies and Subcortical Band Heterotopias	Associate	34211111
Periventricular Nodular Heterotopia	Associate	34211111
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	15713800