STRADA (STE20 related adaptor alpha)

Gene

• Entrez ID: 92335
• Gene name: STE20 related adaptor alpha
• Gene symbol: STRADA
• Synonyms (NCBI Gene): LYK5, NY-BR-96, PMSE, STRAD, STRAD alpha, Stlk
• Chromosome: 17
• Chromosome location: 17q23.3
• Summary: The protein encoded by this gene contains a STE20-like kinase domain, but lacks several residues that are critical for catalytic activity, so it is termed a `pseudokinase`. The protein forms a heterotrimeric complex with serine/threonine kinase 11 (STK11,

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs55695051	G>A	Pathogenic	Intron variant, non coding transcript variant, missense variant, coding sequence variant
rs56271007	C>A	Pathogenic	Intron variant, non coding transcript variant, missense variant, coding sequence variant
rs748855607	G>A	Pathogenic	Coding sequence variant, downstream transcript variant, stop gained, intron variant, non coding transcript variant, genic downstream transcript variant
rs886037929	->T	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1230074670	C>A,G	Likely-pathogenic	Splice acceptor variant, intron variant
rs1555699052	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1598144913	C>G	Likely-pathogenic	3 prime UTR variant, genic downstream transcript variant, splice acceptor variant, intron variant, downstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1399202	hsa-miR-103a	CLIP-seq
MIRT1399203	hsa-miR-107	CLIP-seq
MIRT1399204	hsa-miR-1236	CLIP-seq
MIRT1399205	hsa-miR-1270	CLIP-seq
MIRT1399206	hsa-miR-1291	CLIP-seq
MIRT1399207	hsa-miR-1537	CLIP-seq
MIRT1399208	hsa-miR-15a	CLIP-seq
MIRT1399209	hsa-miR-15b	CLIP-seq
MIRT1399210	hsa-miR-16	CLIP-seq
MIRT1399211	hsa-miR-1827	CLIP-seq
MIRT1399212	hsa-miR-1915	CLIP-seq
MIRT1399213	hsa-miR-195	CLIP-seq
MIRT1399214	hsa-miR-2278	CLIP-seq
MIRT1399215	hsa-miR-29a	CLIP-seq
MIRT1399216	hsa-miR-29b	CLIP-seq
MIRT1399217	hsa-miR-29c	CLIP-seq
MIRT1399218	hsa-miR-3127-5p	CLIP-seq
MIRT1399219	hsa-miR-3136-3p	CLIP-seq
MIRT1399220	hsa-miR-3153	CLIP-seq
MIRT1399221	hsa-miR-3169	CLIP-seq
MIRT1399222	hsa-miR-3182	CLIP-seq
MIRT1399223	hsa-miR-328	CLIP-seq
MIRT1399224	hsa-miR-3622a-3p	CLIP-seq
MIRT1399225	hsa-miR-3622b-3p	CLIP-seq
MIRT1399226	hsa-miR-3670	CLIP-seq
MIRT1399227	hsa-miR-3673	CLIP-seq
MIRT1399228	hsa-miR-378g	CLIP-seq
MIRT1399229	hsa-miR-3918	CLIP-seq
MIRT1399230	hsa-miR-424	CLIP-seq
MIRT1399231	hsa-miR-4292	CLIP-seq
MIRT1399232	hsa-miR-432	CLIP-seq
MIRT1399233	hsa-miR-4434	CLIP-seq
MIRT1399234	hsa-miR-4436b-3p	CLIP-seq
MIRT1399235	hsa-miR-4515	CLIP-seq
MIRT1399236	hsa-miR-4516	CLIP-seq
MIRT1399237	hsa-miR-4531	CLIP-seq
MIRT1399238	hsa-miR-4640-5p	CLIP-seq
MIRT1399239	hsa-miR-4668-5p	CLIP-seq
MIRT1399240	hsa-miR-4685-5p	CLIP-seq
MIRT1399241	hsa-miR-4700-3p	CLIP-seq
MIRT1399242	hsa-miR-4726-3p	CLIP-seq
MIRT1399243	hsa-miR-4726-5p	CLIP-seq
MIRT1399244	hsa-miR-4733-3p	CLIP-seq
MIRT1399245	hsa-miR-4734	CLIP-seq
MIRT1399246	hsa-miR-4789-3p	CLIP-seq
MIRT1399247	hsa-miR-497	CLIP-seq
MIRT1399248	hsa-miR-513a-5p	CLIP-seq
MIRT1399249	hsa-miR-548u	CLIP-seq
MIRT1399250	hsa-miR-620	CLIP-seq
MIRT1399251	hsa-miR-658	CLIP-seq
MIRT1399252	hsa-miR-765	CLIP-seq
MIRT1399253	hsa-miR-1207-3p	CLIP-seq
MIRT1399254	hsa-miR-1207-5p	CLIP-seq
MIRT1399255	hsa-miR-1246	CLIP-seq
MIRT1399205	hsa-miR-1270	CLIP-seq
MIRT1399206	hsa-miR-1291	CLIP-seq
MIRT1399215	hsa-miR-29a	CLIP-seq
MIRT1399216	hsa-miR-29b	CLIP-seq
MIRT1399217	hsa-miR-29c	CLIP-seq
MIRT1399256	hsa-miR-31	CLIP-seq
MIRT1399257	hsa-miR-3134	CLIP-seq
MIRT1399258	hsa-miR-3197	CLIP-seq
MIRT1399223	hsa-miR-328	CLIP-seq
MIRT1399232	hsa-miR-432	CLIP-seq
MIRT1399259	hsa-miR-4320	CLIP-seq
MIRT1399260	hsa-miR-4426	CLIP-seq
MIRT1399233	hsa-miR-4434	CLIP-seq
MIRT1399234	hsa-miR-4436b-3p	CLIP-seq
MIRT1399261	hsa-miR-4459	CLIP-seq
MIRT1399236	hsa-miR-4516	CLIP-seq
MIRT1399237	hsa-miR-4531	CLIP-seq
MIRT1399262	hsa-miR-4647	CLIP-seq
MIRT1399263	hsa-miR-4662b	CLIP-seq
MIRT1399240	hsa-miR-4685-5p	CLIP-seq
MIRT1399264	hsa-miR-4687-5p	CLIP-seq
MIRT1399265	hsa-miR-4695-5p	CLIP-seq
MIRT1399266	hsa-miR-4696	CLIP-seq
MIRT1399267	hsa-miR-4722-5p	CLIP-seq
MIRT1399244	hsa-miR-4733-3p	CLIP-seq
MIRT1399268	hsa-miR-4736	CLIP-seq
MIRT1399269	hsa-miR-4763-3p	CLIP-seq
MIRT1399250	hsa-miR-620	CLIP-seq
MIRT1399202	hsa-miR-103a	CLIP-seq
MIRT1399203	hsa-miR-107	CLIP-seq
MIRT1399270	hsa-miR-185	CLIP-seq
MIRT1399271	hsa-miR-2355-5p	CLIP-seq
MIRT1399272	hsa-miR-3125	CLIP-seq
MIRT1399218	hsa-miR-3127-5p	CLIP-seq
MIRT1399273	hsa-miR-3150b-3p	CLIP-seq
MIRT1399220	hsa-miR-3153	CLIP-seq
MIRT1399274	hsa-miR-3657	CLIP-seq
MIRT1399275	hsa-miR-3916	CLIP-seq
MIRT1399276	hsa-miR-4306	CLIP-seq
MIRT1399277	hsa-miR-4476	CLIP-seq
MIRT1399278	hsa-miR-4519	CLIP-seq
MIRT1399279	hsa-miR-4533	CLIP-seq
MIRT1399280	hsa-miR-4644	CLIP-seq
MIRT1399281	hsa-miR-4711-3p	CLIP-seq
MIRT1399282	hsa-miR-4712-3p	CLIP-seq
MIRT1399283	hsa-miR-4781-5p	CLIP-seq
MIRT1399284	hsa-miR-4784	CLIP-seq
MIRT1399285	hsa-miR-511	CLIP-seq
MIRT1399252	hsa-miR-765	CLIP-seq
MIRT2119653	hsa-miR-3616-5p	CLIP-seq
MIRT2119654	hsa-miR-3647-5p	CLIP-seq
MIRT2119655	hsa-miR-371b-5p	CLIP-seq
MIRT1399232	hsa-miR-432	CLIP-seq
MIRT1399278	hsa-miR-4519	CLIP-seq
MIRT2119656	hsa-miR-4795-5p	CLIP-seq
MIRT2119657	hsa-miR-573	CLIP-seq
MIRT2119658	hsa-miR-7	CLIP-seq
MIRT1399237	hsa-miR-4531	CLIP-seq
MIRT1399220	hsa-miR-3153	CLIP-seq
MIRT1399220	hsa-miR-3153	CLIP-seq
MIRT1399252	hsa-miR-765	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004672	Function	Protein kinase activity	IDA	12805220
GO:0005515	Function	Protein binding	IPI	12805220, 14676191, 19892943, 20562859, 21423148, 25241761, 25852190, 28514442
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IDA	12805220
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	12805220
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006468	Process	Protein phosphorylation	IDA	12805220
GO:0006611	Process	Protein export from nucleus	IDA	12805220
GO:0007050	Process	Cell cycle arrest	TAS
GO:0019900	Function	Kinase binding	IPI	19892943
GO:0030295	Function	Protein kinase activator activity	IDA	19892943
GO:0032147	Process	Activation of protein kinase activity	IDA	12805220
GO:0043539	Function	Protein serine/threonine kinase activator activity	IDA	19892943
GO:0071902	Process	Positive regulation of protein serine/threonine kinase activity	IEA

Other IDs

• MIM: 608626
• HGNC: 30172
• e!Ensembl: ENSG00000266173

Protein

• UniProt ID: Q7RTN6
• Protein name: STE20-related kinase adapter protein alpha (STRAD alpha) (STE20-related adapter protein) (Serologically defined breast cancer antigen NY-BR-96)
• Protein function: Pseudokinase which, in complex with CAB39/MO25 (CAB39/MO25alpha or CAB39L/MO25beta), binds to and activates STK11/LKB1. Adopts a closed conformation typical of active protein kinases and binds STK11/LKB1 as a pseudosubstrate, promoting conformat
• PDB: 1UPK, 2WTK, 3GNI, 8VSU
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00069	Pkinase	69 → 379	Protein kinase domain	Domain

• Sequence:

  MSFLVSKPERIRRWVSEKFIVEGLRDLELFGEQPPGDTRRKTNDASSESIASFSKQEVMS
  SFLPEGGCYELLTVIGKGFEDLMTVNLARYKPTGEYVTVRRINLEACSNEMVTFLQGELH
  VSKLFNHPNIVPYRATFIADNELWVVTSFMAYGSAKDLICTHFMDGMNELAIAYILQGVL
  KALDYIHHMGYVHRSVKASHILISVDGKVYLSGLRSNLSMISHGQRQRVVHDFPKYSVKV
  LPWLSPEVLQQNLQGYDAKSDIYSVGITACELANGHVPFKDMPATQMLLEKLNGTVPCLL
  DTSTIPAEELTMSPSRSVANSGLSDSLTTSTPRPSNGDSPSHPYHRTFSPHFHHFVEQCL
  QRNPDARPSASTLLNHSFFKQIKRRASEALPELLRPVTPITNFEGSQSQDHSGIFGLVTN
  LEELEVDDWEF

• Sequence length: 431

Pathways

KEGG:

mTOR signaling pathway
AMPK signaling pathway

Reactome:

Energy dependent regulation of mTOR by LKB1-AMPK

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Alzheimer disease	Alzheimer`s Disease	rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039, rs63750973, rs63749810, rs63750643, rs193922916, rs63750306, rs63750590, rs63750526, rs63751235, rs661, rs63751037, rs63749885, rs63750231, rs63751229, rs63751272, rs63751223, rs63750391, rs63751163, rs281875357, rs63751141, rs63750082, rs121917807, rs63751399, rs63750265, rs63751144, rs63750886, rs63751068, rs121917808, rs63749891, rs63750083, rs63749824, rs63750577, rs267606983, rs63750218, rs63751287, rs63750900, rs63751475, rs63750450, rs63749805, rs63751278, rs63751106, rs63750004, rs63749806, rs63751024, rs63750248, rs63750779, rs63751139, rs63750219, rs63750298, rs63750687, rs63750851, rs1553268799, rs1561901881, rs1561905293, rs866101707, rs1566638673, rs63750009, rs1566656702, rs1566657804, rs1567885728, rs1568339995, rs1566630791, rs1555358260, rs63750964, rs1594998354, rs63751316	26830138
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
Epilepsy	Epilepsy, Rolandic	rs113994140, rs28937874, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs387906420, rs121917752, rs121918622, rs281865564, rs387907313, rs397514670, rs768241563, rs587776973, rs587776974, rs587776975, rs879255234, rs587776976, rs587776977, rs121917993, rs398123588, rs13306758, rs587777458, rs587777459, rs541024038, rs797044545, rs730882240, rs786205703, rs794726859, rs796053126, rs796053035, rs796053216, rs796052839, rs869025201, rs797044999, rs797044998, rs797045045, rs794726762, rs869312971, rs869312972, rs879255652, rs886037938, rs886037958, rs886037959, rs886037960, rs886037961, rs886037962, rs886037965, rs886037966, rs886039245, rs886039246, rs886039251, rs886039252, rs772872014, rs886039253, rs886039256, rs757511744, rs886039261, rs886039263, rs578185749, rs886039266, rs886039268, rs886039269, rs886039273, rs368820286, rs1057518801, rs1057518688, rs1057519107, rs1057519273, rs752753379, rs767795673, rs1057519424, rs755946598, rs760609867, rs1057521066, rs1057524233, rs1060501488, rs1060501487, rs755127868, rs751533302, rs771373457, rs1475605360, rs1555401942, rs1553567864, rs200661329, rs766667249, rs1556607762, rs1555882921, rs1555882867, rs1555900914, rs1553546836, rs77216276, rs755595256, rs747661902, rs2105890565, rs1021001959, rs1555441032, rs1555439541, rs1556526609, rs1315483224, rs759952667, rs1555885023, rs1553456695, rs1555942720, rs1569083500, rs1559127505, rs1206309859, rs1567139896, rs1567134495, rs1431914212, rs1569166925, rs1569255443, rs1568955379, rs1567152003, rs374158137, rs1567129567, rs1569523728, rs1568991466, rs1569186093, rs1569254004, rs1372605067, rs1569067939, rs1568963062, rs1563959514, rs1569012755, rs1559118914, rs1602338615, rs1596522356, rs1364913665, rs1596522300, rs1596526976, rs1229740428, rs1596385588, rs1596500172, rs1596505517, rs1601925213, rs1601970168, rs1602010382, rs1602903591, rs1603014297, rs1603014708, rs1601875057, rs1601970824, rs1601755632, rs1587393982, rs1592977444, rs1575562076, rs1570998206, rs1588057922, rs1596528731, rs1602349641, rs1587401875, rs2065899210, rs1596526915, rs2093486364, rs2056165149, rs2056100951, rs781482552, rs1899868619, rs1900088045, rs1898675878, rs1898686157, rs1898837245, rs1898844513, rs2082841677, rs2085727988, rs2092933941, rs2091657024, rs1899864955, rs1898844907, rs2083056830, rs2084070588, rs1899713412, rs2082695884, rs1977106116, rs1977105425, rs1443687532	29358611
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
Medulloblastoma	Medulloblastoma, Childhood Medulloblastoma, Adult Medulloblastoma, Desmoplastic Medulloblastoma, Melanotic medulloblastoma	rs1589970134, rs587776578, rs587776579, rs17847577, rs111033171, rs80359604, rs80358785, rs80358814, rs863224925, rs1555950011, rs1554231278, rs926177767, rs759412460, rs1564032829, rs761911009	21652733
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
Polyhydramnios, megalencephaly, and symptomatic epilepsy	Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy, Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome	rs886037929, rs748855607, rs1230074670, rs1598144913, rs35598314, rs767297496	20424326, 27170158, 28688840, 30311510

Associations from Text Mining
Disease Name	Relationship Type	References
Colorectal Neoplasms	Associate	17921699
Developmental Disabilities	Associate	30311510
Epilepsy	Associate	30311510
Epilepsy Generalized	Associate	33619909
Medulloblastoma	Associate	21652733
Megalencephaly	Associate	19513107, 30311510, 33619909
Melanoma	Associate	18854318
Neoplasms	Inhibit	16189157
Neoplasms	Associate	19513107
Peutz Jeghers Syndrome	Associate	15756273, 16189157
Plagiocephaly and X linked mental retardation	Associate	30311510
Polyhydramnios	Associate	19513107, 30311510, 33619909
Polyhydramnios Megalencephaly And Symptomatic Epilepsy	Associate	19513107, 33619909
Prostatic Neoplasms	Associate	22509301
Syndrome	Associate	33619909