PIK3AP1 (phosphoinositide-3-kinase adaptor protein 1)

Gene

• Entrez ID: 118788
• Gene name: Phosphoinositide-3-kinase adaptor protein 1
• Gene symbol: PIK3AP1
• Synonyms (NCBI Gene): BCAP
• Chromosome: 10
• Chromosome location: 10q24.1

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT044289	hsa-miR-106b-5p	CLASH	23622248
MIRT726942	hsa-miR-92a-3p	HITS-CLIP	22473208
MIRT726941	hsa-miR-92b-3p	HITS-CLIP	22473208
MIRT726940	hsa-miR-32-5p	HITS-CLIP	22473208
MIRT1233800	hsa-miR-103a	CLIP-seq
MIRT1233801	hsa-miR-107	CLIP-seq
MIRT1233802	hsa-miR-1254	CLIP-seq
MIRT1233803	hsa-miR-1297	CLIP-seq
MIRT1233804	hsa-miR-26a	CLIP-seq
MIRT1233805	hsa-miR-26b	CLIP-seq
MIRT1233806	hsa-miR-302a	CLIP-seq
MIRT1233807	hsa-miR-302b	CLIP-seq
MIRT1233808	hsa-miR-302c	CLIP-seq
MIRT1233809	hsa-miR-302d	CLIP-seq
MIRT1233810	hsa-miR-302e	CLIP-seq
MIRT1233811	hsa-miR-3116	CLIP-seq
MIRT1233812	hsa-miR-3192	CLIP-seq
MIRT1233813	hsa-miR-34b	CLIP-seq
MIRT1233814	hsa-miR-3622b-5p	CLIP-seq
MIRT1233815	hsa-miR-3682-5p	CLIP-seq
MIRT1233816	hsa-miR-369-3p	CLIP-seq
MIRT1233817	hsa-miR-372	CLIP-seq
MIRT1233818	hsa-miR-373	CLIP-seq
MIRT1233819	hsa-miR-374a	CLIP-seq
MIRT1233820	hsa-miR-374b	CLIP-seq
MIRT1233821	hsa-miR-374c	CLIP-seq
MIRT1233822	hsa-miR-421	CLIP-seq
MIRT1233823	hsa-miR-4272	CLIP-seq
MIRT1233824	hsa-miR-4299	CLIP-seq
MIRT1233825	hsa-miR-4452	CLIP-seq
MIRT1233826	hsa-miR-4465	CLIP-seq
MIRT1233827	hsa-miR-4474-5p	CLIP-seq
MIRT1233828	hsa-miR-4642	CLIP-seq
MIRT1233829	hsa-miR-4666-3p	CLIP-seq
MIRT1233830	hsa-miR-4668-3p	CLIP-seq
MIRT1233831	hsa-miR-4729	CLIP-seq
MIRT1233832	hsa-miR-4755-3p	CLIP-seq
MIRT1233833	hsa-miR-486-5p	CLIP-seq
MIRT1233834	hsa-miR-519a	CLIP-seq
MIRT1233835	hsa-miR-519b-3p	CLIP-seq
MIRT1233836	hsa-miR-519c-3p	CLIP-seq
MIRT1233837	hsa-miR-520a-3p	CLIP-seq
MIRT1233838	hsa-miR-520b	CLIP-seq
MIRT1233839	hsa-miR-520c-3p	CLIP-seq
MIRT1233840	hsa-miR-520d-3p	CLIP-seq
MIRT1233841	hsa-miR-520e	CLIP-seq
MIRT1233842	hsa-miR-545	CLIP-seq
MIRT1233843	hsa-miR-624	CLIP-seq
MIRT1233844	hsa-miR-655	CLIP-seq
MIRT1233845	hsa-miR-661	CLIP-seq
MIRT1233846	hsa-miR-889	CLIP-seq
MIRT2068834	hsa-miR-153	CLIP-seq
MIRT2068835	hsa-miR-3126-5p	CLIP-seq
MIRT2068836	hsa-miR-410	CLIP-seq
MIRT2068837	hsa-miR-4419a	CLIP-seq
MIRT2068838	hsa-miR-4423-3p	CLIP-seq
MIRT2068839	hsa-miR-448	CLIP-seq
MIRT2068840	hsa-miR-4510	CLIP-seq
MIRT2068841	hsa-miR-4777-5p	CLIP-seq
MIRT2068842	hsa-miR-4794	CLIP-seq
MIRT1233833	hsa-miR-486-5p	CLIP-seq
MIRT2068843	hsa-miR-501-3p	CLIP-seq
MIRT2068844	hsa-miR-502-3p	CLIP-seq
MIRT2068845	hsa-miR-518d-5p	CLIP-seq
MIRT2068846	hsa-miR-519b-5p	CLIP-seq
MIRT2068847	hsa-miR-519c-5p	CLIP-seq
MIRT2068848	hsa-miR-520c-5p	CLIP-seq
MIRT2068849	hsa-miR-526a	CLIP-seq
MIRT1233842	hsa-miR-545	CLIP-seq
MIRT2295886	hsa-miR-554	CLIP-seq
MIRT2295887	hsa-miR-642a	CLIP-seq
MIRT2392522	hsa-miR-3180-5p	CLIP-seq
MIRT2392523	hsa-miR-520a-5p	CLIP-seq
MIRT2392524	hsa-miR-525-5p	CLIP-seq
MIRT2456488	hsa-miR-1270	CLIP-seq
MIRT2456489	hsa-miR-1273f	CLIP-seq
MIRT2456490	hsa-miR-3148	CLIP-seq
MIRT2456491	hsa-miR-3688-3p	CLIP-seq
MIRT2456492	hsa-miR-4531	CLIP-seq
MIRT2456493	hsa-miR-4683	CLIP-seq
MIRT2456494	hsa-miR-620	CLIP-seq
MIRT2593913	hsa-miR-129-3p	CLIP-seq
MIRT2593914	hsa-miR-4786-3p	CLIP-seq
MIRT2593915	hsa-miR-5096	CLIP-seq
MIRT2593916	hsa-miR-938	CLIP-seq
MIRT2593913	hsa-miR-129-3p	CLIP-seq
MIRT2593914	hsa-miR-4786-3p	CLIP-seq
MIRT2593915	hsa-miR-5096	CLIP-seq
MIRT2593916	hsa-miR-938	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005102	Function	Signaling receptor binding	IBA
GO:0005515	Function	Protein binding	IPI	21706016, 21988832, 28514442, 31980649, 32296183, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	ISS
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0007165	Process	Signal transduction	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	ISS
GO:0034134	Process	Toll-like receptor 2 signaling pathway	IEA
GO:0034134	Process	Toll-like receptor 2 signaling pathway	ISS
GO:0034142	Process	Toll-like receptor 4 signaling pathway	IEA
GO:0034142	Process	Toll-like receptor 4 signaling pathway	ISS
GO:0034154	Process	Toll-like receptor 7 signaling pathway	IEA
GO:0034154	Process	Toll-like receptor 7 signaling pathway	ISS
GO:0034162	Process	Toll-like receptor 9 signaling pathway	IEA
GO:0034162	Process	Toll-like receptor 9 signaling pathway	ISS
GO:0036312	Function	Phosphatidylinositol 3-kinase regulatory subunit binding	IBA
GO:0036312	Function	Phosphatidylinositol 3-kinase regulatory subunit binding	IEA
GO:0036312	Function	Phosphatidylinositol 3-kinase regulatory subunit binding	ISS
GO:0042802	Function	Identical protein binding	IEA
GO:0050727	Process	Regulation of inflammatory response	IEA
GO:0050727	Process	Regulation of inflammatory response	ISS
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	ISS

Other IDs

• MIM: 607942
• HGNC: 30034
• e!Ensembl: ENSG00000155629

Protein

• UniProt ID: Q6ZUJ8
• Protein name: Phosphoinositide 3-kinase adapter protein 1 (B-cell adapter for phosphoinositide 3-kinase) (B-cell phosphoinositide 3-kinase adapter protein 1)
• Protein function: Signaling adapter that contributes to B-cell development by linking B-cell receptor (BCR) signaling to the phosphoinositide 3-kinase (PI3K)-Akt signaling pathway. Has a complementary role to the BCR coreceptor CD19, coupling BCR and PI3K activat
• PDB: 5FOR, 6SWS
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF18567	TIR_3	11 → 141	Toll/interleukin-1 receptor domain	Domain
  PF14545	DBB	180 → 318	Dof, BCAP, and BANK (DBB) motif,	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in natural killer (NK) cells. {ECO:0000269|PubMed:18337558}.
• Sequence:

  MAASGVPRGCDILIVYSPDAEEWCQYLQTLFLSSRQVRSQKILTHRLGPEASFSAEDLSL
  FLSTRCVVVLLSAELVQHFHKPALLPLLQRAFHPPHRVVRLLCGVRDSEEFLDFFPDWAH
  WQELTCDDEPETYVAAVKKAISEDSGCDSVTDTEPEDEKVVSYSKQQNLPTVTSPGNLMV
  VQPDRIRCGAETTVYVIVRCKLDDRVATEAEFSPEDSPSVRMEAKVENEYTISVKAPNLS
  SGNVSLKIYSGDLVVCETVISYYTDMEEIGNLLSNAANPVEFMCQAFKIVPYNTETLDKL
  LTESLKNNIPASGLHLFGINQLEEEDMMTNQRDEELPTLLHFAAKYGLKNLTALLLTCPG
  ALQAYSVANKHGHYPNTIAEKHGFRDLRQFIDEYVETVDMLKSHIKEELMHGEEADAVYE
  SMAHLSTDLLMKCSLNPGCDEDLYESMAAFVPAATEDLYVEMLQASTSNPIPGDGFSRAT
  KDSMIRKFLEGNSMGMTNLERDQCHLGQEEDVYHTVDDDEAFSVDLASRPPVPVPRPETT
  APGAHQLPDNEPYIFKVFAEKSQERPGNFYVSSESIRKGPPVRPWRDRPQSSIYDPFAGM
  KTPGQRQLITLQEQVKLGIVNVDEAVLHFKEWQLNQKKRSESFRFQQENLKRLRDSITRR
  QREKQKSGKQTDLEITVPIRHSQHLPAKVEFGVYESGPRKSVIPPRTELRRGDWKTDSTS
  STASSTSNRSSTRSLLSVSSGMEGDNEDNEVPEVTRSRSPGPPQVDGTPTMSLERPPRVP
  PRAASQRPPTRETFHPPPPVPPRGR

• Sequence length: 805

Pathways

KEGG:

PI3K-Akt signaling pathway
B cell receptor signaling pathway

Reactome:

PIP3 activates AKT signaling
Constitutive Signaling by Aberrant PI3K in Cancer
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
Antigen activates B Cell Receptor (BCR) leading to generation of second messengers

Associated diseases

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Germ cell tumor of testis	Benign	rs3748234	RCV005909604
Infantile spasms	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	rs760856517, rs1849075736, rs761647957, rs752904157, rs773554213, rs1849071480, rs1843620428, rs766807797, rs2134181089, rs2134208820, rs150135770, rs903471733, rs1390796047, rs200684467, rs367613610, rs1363813166, rs2134208806, rs762383625, rs1332271762, rs1427646407, rs2134235520, rs367980584, rs1206726427, rs2134291563, rs202093664, rs150030424, rs746475285, rs776232557, rs370396990, rs766566195, rs372013145, rs567912958, rs767807459, rs2134183432, rs776181166, rs761536697, rs2134291490, rs2134291677, rs777233199, rs753071212, rs2134207312, rs779450561, rs1291249415, rs756216607, rs778934212, rs539458415, rs3748236, rs12784975, rs3748234, rs4344416, rs139678848, rs549333065, rs3748229, rs17112076, rs367935657, rs1554951926, rs770212814, rs751076536, rs751645271, rs1249665321, rs745868556, rs1323743578, rs746172807, rs2134231522, rs1281459160, rs2134201107, rs140404891, rs374586750, rs749289928, rs1261866966, rs754924629, rs2134239266, rs369732062, rs562494094, rs778480899, rs768643466, rs2134208864, rs1251757430, rs762971506, rs1285143382, rs182619826, rs752887348, rs770097737, rs1296135119, rs2134207401, rs562166763, rs771532503, rs369779741, rs772197733, rs747349549, rs1843182697, rs1245379804, rs1844418715, rs1264361188, rs2134291149, rs1334720195, rs1274478777, rs1308742123, rs2134234232, rs1589484825, rs2134234166, rs2134228303, rs779642441, rs762096013, rs2134201180, rs368775964, rs1381486962, rs778955496, rs774301849, rs1324659918, rs2134172614, rs369291853, rs371244901, rs1294985030, rs575594175, rs922297353, rs2134189611, rs2134228489, rs767738933, rs752472885, rs2134201181, rs377765234, rs375742773, rs767405565, rs751495080, rs774832922, rs1356906937, rs760573991, rs2134235478, rs754562989, rs2134189475, rs1292350732, rs2134207219, rs2134201161, rs753935989, rs1370881954, rs747096308, rs2134228418, rs752466455, rs752844654, rs201085961, rs201975171, rs1283162856, rs557918551, rs1409765569, rs754985674, rs2134181291, rs1848957609, rs775513848, rs769390249, rs2493656368, rs2493701973, rs45587542, rs201086332, rs540868181, rs41299167, rs201004779, rs749277007, rs776888722, rs2493793447, rs1173110540, rs764351245, rs540002592, rs35035564, rs945621347, rs766343558, rs756599355, rs1181792428, rs776605514, rs773426752, rs748154918, rs1198843653, rs1486828333, rs1404190224, rs2493661820, rs1008520865, rs751280164, rs773311496, rs1564960833, rs2493661206, rs2493711498, rs771479008, rs1303544999, rs1844413443, rs1434053170, rs1418071777, rs1848956436, rs1448749156, rs780929861, rs781413494, rs2493701212, rs1468316502, rs143976553, rs1177976567, rs191740470, rs755038842, rs899601765, rs2493651229, rs149381805, rs763058862, rs2493661634, rs780834951, rs757339189, rs775391682, rs777419257, rs935163609, rs750243708, rs1844411752, rs754633544, rs1198626901, rs2493664001, rs1843182743, rs1416029799, rs1272633155, rs2493701984, rs1564967999, rs1844410148, rs562675343, rs896155784, rs2493644338, rs1844555792, rs2493656576, rs750477172, rs2493792843, rs1172620019, rs2493701877, rs2493793647, rs766269268, rs767920261, rs376152605, rs559319875, rs373505645, rs769002190, rs749043096, rs775458651, rs754594404, rs1844416030, rs1337022996, rs1342073621, rs987850711, rs1364379895, rs1843557332, rs750819512, rs760627295, rs906745410, rs781470629, rs2493693370, rs1012050530, rs2493711502, rs1376938243, rs757532501, rs1157384708, rs369893107, rs544210415, rs1293430495, rs765123457, rs747654653, rs747023408, rs145459703, rs1164907557, rs147376017, rs141067860, rs74496843, rs138990701, rs35668691, rs141221035, rs770855063, rs73334383, rs111902593, rs117500254, rs201824606, rs199720844, rs374819025, rs146527410, rs1554963337, rs569632623, rs1460674779, rs147512410, rs3748233, rs34642975, rs149682608, rs567983975, rs138047705, rs140843691, rs539294987, rs775761112, rs201358424, rs145525421, rs753965309, rs763294320, rs1364487885, rs1554952901, rs1440323214, rs199687287, rs765634361, rs144966728, rs1554954774, rs142087930, rs113976248, rs760805333, rs774215325, rs752098964, rs150666185, rs760007926, rs1564991748, rs771872937, rs1018719222, rs375373941, rs185079778, rs201805846, rs781326320, rs200224557, rs138344015, rs371865710, rs1589490109, rs370707189, rs544379655, rs1589515449, rs748113882, rs1469971703, rs1589550882, rs1295938169, rs996067839, rs534613715, rs571900807, rs199933936, rs370579298, rs777298829, rs148107187, rs761608807, rs376969413, rs776649790, rs567664840, rs1227973829, rs1218886811, rs934060056, rs143102361, rs767322969, rs766208052, rs755769271, rs769596130, rs200270009, rs1843059517, rs761563569, rs1843115934, rs1843157949, rs773784554, rs1843446161, rs1329719454, rs1177724670, rs972272839, rs1280519942, rs1843537852, rs371873967, rs1843557117, rs201029174, rs1844410722, rs760519047, rs374054197, rs753785564, rs199952187, rs1239321656, rs1473752688, rs952542746, rs1843161341, rs1844416205, rs1462949784, rs777771892, rs745636219, rs201595275, rs768087248, rs374337467, rs763602032, rs1461903721, rs1843115988, rs1848911558, rs764406248, rs1307133908, rs1844415897	RCV001318365 RCV001314981 RCV001314811 RCV001324395 RCV001322155 RCV001350842 RCV001349054 RCV001348724 RCV001373179 RCV001365387 RCV001364752 RCV001369641 RCV001401054 RCV001398405 RCV001403721 RCV001413299 RCV001416480 RCV001393544 RCV001397321 RCV001403497 RCV001399870 RCV001396674 RCV001402493 RCV001392405 RCV001413116 RCV001443135 RCV001443707 RCV001432411 RCV001433171 RCV001448111 RCV001422526 RCV001429200 RCV001463984 RCV001456579 RCV001466836 RCV001465632 RCV001460236 RCV001451592 RCV001503521 RCV001485904 RCV001495562 RCV001483647 RCV001489883 RCV001506370 RCV001496401 RCV001522586 RCV001521839 RCV001521840 RCV001521841 RCV001521842 RCV001521099 RCV001510573 RCV001521843 RCV001522393 RCV002035873 RCV001867636 RCV001961201 RCV002027980 RCV001919859 RCV001998601 RCV001912685 RCV001963796 RCV001963814 RCV001867204 RCV001928390 RCV001904758 RCV001864966 RCV001894054 RCV002036137 RCV001930444 RCV001889326 RCV002050031 RCV001941362 RCV001907448 RCV002010721 RCV002017133 RCV001942640 RCV001943591 RCV002023445 RCV001874665 RCV002027395 RCV002002315 RCV002007980 RCV002025768 RCV001926945 RCV002000376 RCV002035935 RCV001968466 RCV001927965 RCV001971709 RCV001957980 RCV001986858 RCV001915546 RCV002017029 RCV002050129 RCV002044286 RCV001888936 RCV001936919 RCV001971977 RCV002030544 RCV002023364 RCV002039476 RCV001967278 RCV002048399 RCV002020796 RCV001907080 RCV001889626 RCV001863491 RCV002005137 RCV001913944 RCV001886320 RCV001968401 RCV002178074 RCV002075538 RCV002081201 RCV002088297 RCV002142022 RCV002084393 RCV002213571 RCV002213519 RCV002144981 RCV002147269 RCV002192882 RCV002096656 RCV002112284 RCV002091107 RCV002097556 RCV002091210 RCV002117296 RCV002173257 RCV002183785 RCV002173931 RCV002110750 RCV002208099 RCV002145808 RCV002216511 RCV002113016 RCV002114697 RCV002194506 RCV002096225 RCV002207194 RCV002216444 RCV002108188 RCV002186581 RCV002104937 RCV002182756 RCV002117099 RCV002207321 RCV002109822 RCV002177683 RCV002139571 RCV002117893 RCV002163487 RCV002158340 RCV002295819 RCV002303208 RCV002304595 RCV002302114 RCV003053128 RCV003071039 RCV003070741 RCV003056698 RCV003056727 RCV003068256 RCV003067002 RCV003086194 RCV003093440 RCV002598558 RCV003092636 RCV003084632 RCV002585050 RCV002596318 RCV002643800 RCV002628585 RCV002633908 RCV002640450 RCV003110362 RCV002577012 RCV002572071 RCV002591057 RCV002685381 RCV002676452 RCV002639435 RCV002705940 RCV002725810 RCV002786460 RCV002801365 RCV002814920 RCV002824499 RCV002797291 RCV002833233 RCV002812002 RCV002839444 RCV002834561 RCV002858154 RCV002848288 RCV002900637 RCV002882000 RCV002937406 RCV002922573 RCV002957388 RCV002971267 RCV002993943 RCV002988663 RCV003011196 RCV003054203 RCV005099827 RCV003594634 RCV003594800 RCV003594829 RCV003595030 RCV003595213 RCV003595275 RCV003595135 RCV003595414 RCV003595416 RCV003595589 RCV003595591 RCV003593488 RCV003593530 RCV003593634 RCV003593719 RCV003594540 RCV003594475 RCV003760092 RCV003760682 RCV003760109 RCV003760672 RCV003760667 RCV003760706 RCV003760777 RCV003760803 RCV003760855 RCV003760906 RCV003758256 RCV003758342 RCV003758491 RCV003758529 RCV003758571 RCV003758574 RCV003759301 RCV003759484 RCV003759458 RCV003759563 RCV003760154 RCV003760177 RCV003759636 RCV003760246 RCV003760140 RCV003760188 RCV003760179 RCV003760180 RCV003760274 RCV003760381 RCV003760433 RCV003760374 RCV003760449 RCV003760512 RCV003760579 RCV003761148 RCV003823134 RCV003813993 RCV003827908 RCV003819446 RCV003829762 RCV003839525 RCV003858940 RCV003857358 RCV003851922 RCV003872437 RCV003882343 RCV003876593 RCV000560541 RCV000546016 RCV000531131 RCV000526927 RCV000550091 RCV000525994 RCV000547838 RCV000537498 RCV000525148 RCV000551867 RCV000530357 RCV000559340 RCV000534443 RCV000540022 RCV000551553 RCV000536679 RCV000547223 RCV000528504 RCV000553005 RCV000541815 RCV000553363 RCV000538517 RCV000536064 RCV000544530 RCV000652074 RCV000652071 RCV000652081 RCV000652072 RCV000652070 RCV000652067 RCV000652075 RCV001460426 RCV000652076 RCV000652073 RCV000652069 RCV000652066 RCV000652077 RCV000652068 RCV000652079 RCV000652080 RCV000652082 RCV000701708 RCV000696739 RCV000698966 RCV000696537 RCV000707083 RCV000698962 RCV000703220 RCV000685545 RCV000693513 RCV000702746 RCV000689915 RCV000701636 RCV000696806 RCV000698538 RCV000703328 RCV000795676 RCV000811228 RCV000795555 RCV000809222 RCV000791968 RCV000800293 RCV000811769 RCV000822813 RCV000815636 RCV000818825 RCV000807644 RCV000878807 RCV000878030 RCV000954338 RCV000946113 RCV000972870 RCV001445293 RCV001501357 RCV000899397 RCV000904611 RCV000902460 RCV002065801 RCV001418401 RCV001440000 RCV001441342 RCV001484744 RCV001449279 RCV001504199 RCV000935561 RCV001505468 RCV001496341 RCV001050517 RCV001056134 RCV001047755 RCV001044972 RCV001041704 RCV001044181 RCV001052797 RCV001036234 RCV001043698 RCV001049984 RCV001067401 RCV001044145 RCV001069128 RCV001038008 RCV001055687 RCV001063438 RCV001062245 RCV001045360 RCV001064168 RCV001037805 RCV001046848 RCV001217250 RCV001219638 RCV001216016 RCV001221382 RCV001222904 RCV001209671 RCV001211610 RCV001237614 RCV001231061 RCV001237112 RCV001232185 RCV001228557 RCV001228296 RCV001240355 RCV001245137 RCV001240843 RCV001245567 RCV001308152 RCV001301359 RCV001296449 RCV001307072
Melanoma	Uncertain significance	rs41299167	RCV005930342
PIK3AP1-Associated Seizure Disorder	Uncertain significance	rs1480899711	RCV002266612
PIK3AP1-related disorder	Likely benign; Uncertain significance; Benign	rs202093664, rs754985674, rs2493661360, rs141067860, rs138990701, rs141221035, rs199720844, rs35035564, rs146527410, rs569632623, rs199687287, rs142087930, rs749043096	RCV003963305 RCV003970893 RCV003939812 RCV003935526 RCV003952863 RCV003952862 RCV003962592 RCV003935525 RCV003980021 RCV003952861 RCV003905768 RCV003945664 RCV003970764
PIK3AP1-related early onset epileptic encephalopathy	Uncertain significance	rs1261077605	RCV002266697
Thyroid cancer, nonmedullary, 1	Benign	rs144966728	RCV005900318

Associations from Text Mining
Disease Name	Relationship Type	References
Autoimmune Diseases	Associate	26276688
Behcet Syndrome	Associate	37264476
Brain Diseases	Associate	30552426
Breast Neoplasms	Associate	33053017
Burkitt Lymphoma	Stimulate	26121143
Carcinogenesis	Associate	26276688
Developmental Disabilities	Associate	30552426
Epileptic Encephalopathy Early Infantile 3	Associate	30552426
Epstein Barr Virus Infections	Associate	26121143
Glioblastoma	Associate	33047898
Head and Neck Neoplasms	Associate	24786473
Ige Responsiveness Atopic	Associate	21625490
Inflammation	Associate	32793186
Leukemia Large Granular Lymphocytic	Associate	33786584
Ovarian Neoplasms	Associate	32878513
Propping Zerres syndrome	Inhibit	25261097
Rhinitis Allergic	Associate	21625490
Stomatitis Aphthous	Associate	32793186