SOBP (sine oculis binding protein homolog)

Gene

• Entrez ID: 55084
• Gene name: Sine oculis binding protein homolog
• Gene symbol: SOBP
• Synonyms (NCBI Gene): JXC1, MRAMS
• Disease Acronyms (UniProt): MRAMS
• Chromosome: 6
• Chromosome location: 6q21
• Summary: The protein encoded by this gene is a nuclear zinc finger protein that is involved in development of the cochlea. Defects in this gene have also been linked to intellectual disability. [provided by RefSeq, Mar 2011]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs267607078	C>T	Pathogenic	Coding sequence variant, stop gained
rs368271940	C>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016801	hsa-miR-335-5p	Microarray	18185580
MIRT043220	hsa-miR-324-5p	CLASH	23622248
MIRT723626	hsa-miR-3123	HITS-CLIP	19536157
MIRT723625	hsa-miR-8076	HITS-CLIP	19536157
MIRT723624	hsa-miR-4733-5p	HITS-CLIP	19536157
MIRT723623	hsa-miR-218-2-3p	HITS-CLIP	19536157
MIRT723622	hsa-miR-758-5p	HITS-CLIP	19536157
MIRT723621	hsa-miR-6814-5p	HITS-CLIP	19536157
MIRT723620	hsa-miR-144-5p	HITS-CLIP	19536157
MIRT723619	hsa-miR-2052	HITS-CLIP	19536157
MIRT723618	hsa-miR-584-5p	HITS-CLIP	19536157
MIRT723617	hsa-miR-599	HITS-CLIP	19536157
MIRT098035	hsa-miR-30a-5p	PAR-CLIP	21572407
MIRT098036	hsa-miR-30c-5p	PAR-CLIP	21572407
MIRT098037	hsa-miR-30d-5p	PAR-CLIP	21572407
MIRT098039	hsa-miR-30e-5p	PAR-CLIP	21572407
MIRT098038	hsa-miR-30b-5p	PAR-CLIP	21572407
MIRT098040	hsa-miR-302f	PAR-CLIP	21572407
MIRT554070	hsa-miR-7849-3p	PAR-CLIP	21572407
MIRT554069	hsa-miR-6757-3p	PAR-CLIP	21572407
MIRT554068	hsa-miR-6750-5p	PAR-CLIP	21572407
MIRT554067	hsa-miR-6822-5p	PAR-CLIP	21572407
MIRT098032	hsa-miR-4457	PAR-CLIP	21572407
MIRT098030	hsa-miR-125b-2-3p	PAR-CLIP	21572407
MIRT098042	hsa-miR-5187-3p	PAR-CLIP	21572407
MIRT554066	hsa-miR-15b-3p	PAR-CLIP	21572407
MIRT554065	hsa-miR-4424	PAR-CLIP	21572407
MIRT554064	hsa-miR-513b-5p	PAR-CLIP	21572407
MIRT098044	hsa-miR-8081	PAR-CLIP	21572407
MIRT439569	hsa-miR-432-5p	HITS-CLIP	24374217
MIRT439570	hsa-miR-487b-3p	HITS-CLIP	24374217
MIRT439569	hsa-miR-432-5p	HITS-CLIP	24374217
MIRT439570	hsa-miR-487b-3p	HITS-CLIP	24374217
MIRT723626	hsa-miR-3123	HITS-CLIP	19536157
MIRT723625	hsa-miR-8076	HITS-CLIP	19536157
MIRT723624	hsa-miR-4733-5p	HITS-CLIP	19536157
MIRT723623	hsa-miR-218-2-3p	HITS-CLIP	19536157
MIRT723622	hsa-miR-758-5p	HITS-CLIP	19536157
MIRT723621	hsa-miR-6814-5p	HITS-CLIP	19536157
MIRT723620	hsa-miR-144-5p	HITS-CLIP	19536157
MIRT723619	hsa-miR-2052	HITS-CLIP	19536157
MIRT723618	hsa-miR-584-5p	HITS-CLIP	19536157
MIRT723617	hsa-miR-599	HITS-CLIP	19536157
MIRT098035	hsa-miR-30a-5p	PAR-CLIP	21572407
MIRT098036	hsa-miR-30c-5p	PAR-CLIP	21572407
MIRT098037	hsa-miR-30d-5p	PAR-CLIP	21572407
MIRT098039	hsa-miR-30e-5p	PAR-CLIP	21572407
MIRT098038	hsa-miR-30b-5p	PAR-CLIP	21572407
MIRT098040	hsa-miR-302f	PAR-CLIP	21572407
MIRT554070	hsa-miR-7849-3p	PAR-CLIP	21572407
MIRT554069	hsa-miR-6757-3p	PAR-CLIP	21572407
MIRT554068	hsa-miR-6750-5p	PAR-CLIP	21572407
MIRT554067	hsa-miR-6822-5p	PAR-CLIP	21572407
MIRT098032	hsa-miR-4457	PAR-CLIP	21572407
MIRT098030	hsa-miR-125b-2-3p	PAR-CLIP	21572407
MIRT098042	hsa-miR-5187-3p	PAR-CLIP	21572407
MIRT554066	hsa-miR-15b-3p	PAR-CLIP	21572407
MIRT554065	hsa-miR-4424	PAR-CLIP	21572407
MIRT554064	hsa-miR-513b-5p	PAR-CLIP	21572407
MIRT098044	hsa-miR-8081	PAR-CLIP	21572407
MIRT1378459	hsa-miR-1236	CLIP-seq
MIRT1378460	hsa-miR-1269	CLIP-seq
MIRT1378461	hsa-miR-1269b	CLIP-seq
MIRT1378462	hsa-miR-1273f	CLIP-seq
MIRT1378463	hsa-miR-135a	CLIP-seq
MIRT1378464	hsa-miR-135b	CLIP-seq
MIRT1378465	hsa-miR-143	CLIP-seq
MIRT1378466	hsa-miR-203	CLIP-seq
MIRT1378467	hsa-miR-2054	CLIP-seq
MIRT1378468	hsa-miR-296-3p	CLIP-seq
MIRT1378469	hsa-miR-3150b-3p	CLIP-seq
MIRT1378470	hsa-miR-342-5p	CLIP-seq
MIRT1378471	hsa-miR-3607-3p	CLIP-seq
MIRT1378472	hsa-miR-3613-3p	CLIP-seq
MIRT1378473	hsa-miR-3686	CLIP-seq
MIRT1378474	hsa-miR-3936	CLIP-seq
MIRT1378475	hsa-miR-409-3p	CLIP-seq
MIRT1378476	hsa-miR-4270	CLIP-seq
MIRT1378477	hsa-miR-432	CLIP-seq
MIRT1378478	hsa-miR-4441	CLIP-seq
MIRT1378479	hsa-miR-4529-3p	CLIP-seq
MIRT1378480	hsa-miR-4664-5p	CLIP-seq
MIRT1378481	hsa-miR-4708-5p	CLIP-seq
MIRT1378482	hsa-miR-4712-3p	CLIP-seq
MIRT1378483	hsa-miR-4753-3p	CLIP-seq
MIRT1378484	hsa-miR-4768-5p	CLIP-seq
MIRT1378485	hsa-miR-4770	CLIP-seq
MIRT1378486	hsa-miR-4775	CLIP-seq
MIRT1378487	hsa-miR-4778-3p	CLIP-seq
MIRT1378488	hsa-miR-4784	CLIP-seq
MIRT1378489	hsa-miR-539	CLIP-seq
MIRT1378490	hsa-miR-548aa	CLIP-seq
MIRT1378491	hsa-miR-590-3p	CLIP-seq
MIRT1378492	hsa-miR-873	CLIP-seq
MIRT1553919	hsa-miR-1908	CLIP-seq
MIRT1553920	hsa-miR-3151	CLIP-seq
MIRT1553921	hsa-miR-3180	CLIP-seq
MIRT1553922	hsa-miR-3180-3p	CLIP-seq
MIRT1553923	hsa-miR-3196	CLIP-seq
MIRT1553924	hsa-miR-3690	CLIP-seq
MIRT1553925	hsa-miR-4265	CLIP-seq
MIRT1553926	hsa-miR-4296	CLIP-seq
MIRT1553927	hsa-miR-4322	CLIP-seq
MIRT1553928	hsa-miR-4447	CLIP-seq
MIRT1553929	hsa-miR-4472	CLIP-seq
MIRT1553930	hsa-miR-491-5p	CLIP-seq
MIRT1553931	hsa-miR-619	CLIP-seq
MIRT1553932	hsa-miR-663	CLIP-seq
MIRT1553933	hsa-miR-711	CLIP-seq
MIRT2112924	hsa-miR-1254	CLIP-seq
MIRT2112925	hsa-miR-1293	CLIP-seq
MIRT2112926	hsa-miR-1324	CLIP-seq
MIRT2112927	hsa-miR-140-3p	CLIP-seq
MIRT1378465	hsa-miR-143	CLIP-seq
MIRT2112928	hsa-miR-144	CLIP-seq
MIRT2112929	hsa-miR-1976	CLIP-seq
MIRT2112930	hsa-miR-2467-5p	CLIP-seq
MIRT2112931	hsa-miR-3074-5p	CLIP-seq
MIRT2112932	hsa-miR-3116	CLIP-seq
MIRT1378469	hsa-miR-3150b-3p	CLIP-seq
MIRT2112933	hsa-miR-3156-5p	CLIP-seq
MIRT1553921	hsa-miR-3180	CLIP-seq
MIRT1553922	hsa-miR-3180-3p	CLIP-seq
MIRT2112934	hsa-miR-3184	CLIP-seq
MIRT2112935	hsa-miR-3188	CLIP-seq
MIRT1553923	hsa-miR-3196	CLIP-seq
MIRT2112936	hsa-miR-3650	CLIP-seq
MIRT2112937	hsa-miR-370	CLIP-seq
MIRT2112938	hsa-miR-3975	CLIP-seq
MIRT1378475	hsa-miR-409-3p	CLIP-seq
MIRT2112939	hsa-miR-423-5p	CLIP-seq
MIRT1378476	hsa-miR-4270	CLIP-seq
MIRT1378478	hsa-miR-4441	CLIP-seq
MIRT2112940	hsa-miR-4483	CLIP-seq
MIRT2112941	hsa-miR-4522	CLIP-seq
MIRT2112942	hsa-miR-4530	CLIP-seq
MIRT2112943	hsa-miR-4649-3p	CLIP-seq
MIRT2112944	hsa-miR-4663	CLIP-seq
MIRT2112945	hsa-miR-4722-3p	CLIP-seq
MIRT1378485	hsa-miR-4770	CLIP-seq
MIRT1378487	hsa-miR-4778-3p	CLIP-seq
MIRT2112946	hsa-miR-4779	CLIP-seq
MIRT1378488	hsa-miR-4784	CLIP-seq
MIRT2112947	hsa-miR-485-5p	CLIP-seq
MIRT2112948	hsa-miR-545	CLIP-seq
MIRT1378490	hsa-miR-548aa	CLIP-seq
MIRT2112949	hsa-miR-629	CLIP-seq
MIRT2112950	hsa-miR-661	CLIP-seq
MIRT2112951	hsa-miR-758	CLIP-seq
MIRT2112952	hsa-miR-922	CLIP-seq
MIRT2335833	hsa-miR-1229	CLIP-seq
MIRT1378462	hsa-miR-1273f	CLIP-seq
MIRT2112926	hsa-miR-1324	CLIP-seq
MIRT2335834	hsa-miR-133a	CLIP-seq
MIRT2335835	hsa-miR-133b	CLIP-seq
MIRT2112928	hsa-miR-144	CLIP-seq
MIRT1553919	hsa-miR-1908	CLIP-seq
MIRT2335836	hsa-miR-2861	CLIP-seq
MIRT1553920	hsa-miR-3151	CLIP-seq
MIRT2335837	hsa-miR-3154	CLIP-seq
MIRT1553921	hsa-miR-3180	CLIP-seq
MIRT1553922	hsa-miR-3180-3p	CLIP-seq
MIRT2335838	hsa-miR-3180-5p	CLIP-seq
MIRT2335839	hsa-miR-3189-3p	CLIP-seq
MIRT1553923	hsa-miR-3196	CLIP-seq
MIRT2335840	hsa-miR-362-5p	CLIP-seq
MIRT1553924	hsa-miR-3690	CLIP-seq
MIRT2335841	hsa-miR-421	CLIP-seq
MIRT2335842	hsa-miR-4277	CLIP-seq
MIRT1553928	hsa-miR-4447	CLIP-seq
MIRT1553929	hsa-miR-4472	CLIP-seq
MIRT2335843	hsa-miR-4761-3p	CLIP-seq
MIRT1553930	hsa-miR-491-5p	CLIP-seq
MIRT2335844	hsa-miR-500b	CLIP-seq
MIRT2335845	hsa-miR-520a-5p	CLIP-seq
MIRT2335846	hsa-miR-525-5p	CLIP-seq
MIRT2335847	hsa-miR-548m	CLIP-seq
MIRT1553931	hsa-miR-619	CLIP-seq
MIRT1553932	hsa-miR-663	CLIP-seq
MIRT2335848	hsa-miR-665	CLIP-seq
MIRT1553933	hsa-miR-711	CLIP-seq
MIRT2335833	hsa-miR-1229	CLIP-seq
MIRT2630112	hsa-miR-1262	CLIP-seq
MIRT2630113	hsa-miR-1323	CLIP-seq
MIRT2630114	hsa-miR-2681	CLIP-seq
MIRT2335836	hsa-miR-2861	CLIP-seq
MIRT2630115	hsa-miR-338-5p	CLIP-seq
MIRT2112941	hsa-miR-4522	CLIP-seq
MIRT2630116	hsa-miR-4701-3p	CLIP-seq
MIRT2630117	hsa-miR-4714-5p	CLIP-seq
MIRT2630118	hsa-miR-494	CLIP-seq
MIRT2630119	hsa-miR-548o	CLIP-seq
MIRT2335848	hsa-miR-665	CLIP-seq
MIRT2630112	hsa-miR-1262	CLIP-seq
MIRT2630114	hsa-miR-2681	CLIP-seq
MIRT2630116	hsa-miR-4701-3p	CLIP-seq
MIRT2630118	hsa-miR-494	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005634	Component	Nucleus	IEA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007626	Process	Locomotory behavior	IEA
GO:0032184	Function	SUMO polymer binding	IEA
GO:0042472	Process	Inner ear morphogenesis	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0050890	Process	Cognition	IMP	21035105
GO:0090102	Process	Cochlea development	IEA

Other IDs

• MIM: 613667
• HGNC: 29256
• e!Ensembl: ENSG00000112320

Protein

• UniProt ID: A7XYQ1
• Protein name: Sine oculis-binding protein homolog (Jackson circler protein 1)
• Protein function: Implicated in development of the cochlea.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15279	SOBP	224 → 543	Sine oculis-binding protein	Family

• Sequence:

  MAEMEKEGRPPENKRSRKPAHPVKREINEEMKNFAENTMNELLGWYGYDKVELKDGEDIE
  FRSYPTDGESRQHISVLKENSLPKPKLPEDSVISPYNISTGYSGLATGNGLSDSPAGSKD
  HGSVPIIVPLIPPPFIKPPAEDDVSNVQIMCAWCQKVGIKRYSLSMGSEVKSFCSEKCFA
  ACRRAYFKRNKARDEDGHAENFPQQHYAKETPRLAFKNNCELLVCDWCKHIRHTKEYLDF
  GDGERRLQFCSAKCLNQYKMDIFYKETQANLPAGLCSTLHPPMENKAEGTGVQLLTPDSW
  NIPLTDARRKAPSPVATAGQSQGPGPSASTTVSPSDTANCSVTKIPTPVPKSIPISETPN
  IPPVSVQPPASIGPPLGVPPRSPPMVMTNRGPVPLPIFMEQQIMQQIRPPFIRGPPHHAS
  NPNSPLSNPMLPGIGPPPGGPRNLGPTSSPMHRPMLSPHIHPPSTPTMPGNPPGLLPPPP
  PGAPLPSLPFPPVSMMPNGPMPVPQMMNFGLPSLAPLVPPPTLLVPYPVIVPLPVPIPIP
  IPIPHVSDSKPPNGFSSNGENFIPNAPGDSAAAGGKPSGHSLSPRDSKQGSSKSADSPPG
  CSGQALSLAPTPAEHGRSEVVDLTRRAGSPPGPPGAGGQLGFPGVLQGPQDGVIDLTVGH
  RARLHNVIHRALHAHVKAEREPSAAERRTCGGCRDGHCSPPAAGDPGPGAPAGPEAAAAC
  NVIVNGTRGAAAEGAKSAEPPPEQPPPPPPPAPPKKLLSPEEPAVSELESVKENNCASNC
  HLDGEAAKKLMGEEALAGGDKSDPNLNNPADEDHAYALRMLPKTGCVIQPVPKPAEKAAM
  APCIISSPMLSAGPEDLEPPLKRRCLRIRNQNK

• Sequence length: 873

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
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

Unknown
Disease term	Disease name	Evidence	References	Source
Mental retardation, anterior maxillary protrusion, and strabismus	MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS		21035105, 17618476	ClinVar
Schizophrenia	Schizophrenia			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Ovarian Neoplasms	Associate	33742531