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SPEG (striated muscle enriched protein kinase)
Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10290
Gene nameGene Name - the full gene name approved by the HGNC.
Striated muscle enriched protein kinase
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
SPEG
SynonymsGene synonyms aliases
APEG-1, APEG1, BPEG, CNM5, MYLK6, SPEGalpha, SPEGbeta
ChromosomeChromosome number
2
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q35
SummarySummary of gene provided in NCBI Entrez Gene.
This gene encodes a protein with similarity to members of the myosin light chain kinase family. This protein family is required for myocyte cytoskeletal development. Along with the desmin gene, expression of this gene may be controlled by the desmin locus
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
SNP ID Visualize variation Clinical significance Consequence
rs79386296 C>T Conflicting-interpretations-of-pathogenicity Intron variant, genic downstream transcript variant
rs375370312 C>G,T Conflicting-interpretations-of-pathogenicity Genic upstream transcript variant, intron variant
rs529058423 C>T Conflicting-interpretations-of-pathogenicity Genic upstream transcript variant, intron variant, genic downstream transcript variant
rs565137573 T>C Conflicting-interpretations-of-pathogenicity Genic upstream transcript variant, intron variant, missense variant, coding sequence variant
rs587777673 C>G,T Pathogenic Genic downstream transcript variant, missense variant, 5 prime UTR variant, stop gained, non coding transcript variant, coding sequence variant
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
miRTarBase ID miRNA Experiments Reference
MIRT1383685 hsa-miR-1193 CLIP-seq
MIRT1383686 hsa-miR-1912 CLIP-seq
MIRT1383687 hsa-miR-1915 CLIP-seq
MIRT1383688 hsa-miR-3192 CLIP-seq
MIRT1383689 hsa-miR-339-3p CLIP-seq
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0004672 Function Protein kinase activity IBA 21873635
GO:0005515 Function Protein binding IPI 25416956
GO:0005524 Function ATP binding IEA
GO:0005634 Component Nucleus IEA
GO:0006468 Process Protein phosphorylation IEA
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q15772
Protein name Striated muscle preferentially expressed protein kinase (EC 2.7.11.1) (Aortic preferentially expressed protein 1) (APEG-1)
Protein function Isoform 3 may have a role in regulating the growth and differentiation of arterial smooth muscle cells.
PDB 1U2H
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07679 I-set
43 → 125
Immunoglobulin I-set domain
 Domain
PF07679 I-set
722 → 811
Immunoglobulin I-set domain
 Domain
PF16650 SPEG_u2
812 → 868
Disordered
PF07679 I-set
869 → 959
Immunoglobulin I-set domain
 Domain
PF07679 I-set
968 → 1058
Immunoglobulin I-set domain
 Domain
PF07679 I-set
1064 → 1153
Immunoglobulin I-set domain
 Domain
PF07679 I-set
1188 → 1277
Immunoglobulin I-set domain
 Domain
PF07679 I-set
1390 → 1481
Immunoglobulin I-set domain
 Domain
PF07679 I-set
1485 → 1574
Immunoglobulin I-set domain
 Domain
PF00069 Pkinase
1601 → 1854
Protein kinase domain
 Domain
PF07679 I-set
2584 → 2674
Immunoglobulin I-set domain
 Domain
PF00069 Pkinase
2966 → 3218
Protein kinase domain
 Domain
Sequence 
MQKARGTRGEDAGTRAPPSPGVPPKRAKVGAGGGAPVAVAGAPVFLRPLKNAAVCAGSDV
RLRVVVSGTPQPSLRWFRDGQLLPAPAPEPSCLWLRRCGAQDAGVYSCMAQNERGRASCE
AVLTVLEVGDSETAEDDISDVQGTQRLELRDDGAFSTPTGGSDTLVGTSLDTPPTSVTGT
SEEQVSWWGSGQTVLEQEAGSGGGTRRLPGSPRQAQATGAGPRHLGVEPLVRASRANLVG
ASWGSEDSLSVASDLYGSAFSLYRGRALSIHVSVPQSGLRREEPDLQPQLASEAPRRPAQ
PPPSKSALLPPPSPRVGKRSPPGPPAQPAATPTSPHRRTQEPVLPEDTTTEEKRGKKSKS
SGPSLAGTAESRPQTPLSEASGRLSALGRSPRLVRAGSRILDKLQFFEERRRSLERSDSP
PAPLRPWVPLRKARSLEQPKSERGAPWGTPGASQEELRAPGSVAERRRLFQQKAASLDER
TRQRSPASDLELRFAQELGRIRRSTSREELVRSHESLRATLQRAPSPREPGEPPLFSRPS
TPKTSRAVSPAAAQPPSPSSAEKPGDEPGRPRSRGPAGRTEPGEGPQQEVRRRDQFPLTR
SRAIQECRSPVPPPAADPPEARTKAPPGRKREPPAQAVRFLPWATPGLEGAAVPQTLEKN
RAGPEAEKRLRRGPEEDGPWGPWDRRGARSQGKGRRARPTSPELESSDDSYVSAGEEPLE
APVFEIPLQNVVVAPGADVLLKCIITANPPPQVSWHKDGSALRSEGRLLLRAEGERHTLL
LREARAADAGSYMATATNELGQATCAASLTVRPGGSTSPFSSPITSDEEYLSPPEEFPEP
GETWPRTPTMKPSPSQNRRSSDTGSKAPPTFKVSLMDQSVREGQDVIMSIRVQGEPKPVV
SWLRNRQPVRPDQRRFAEEAEGGLCRLRILAAERGDAGFYTCKAVNEYGARQCEARLEVR
AHPESRSLAVLAPLQDVDVGAGEMALFECLVAGPTDVEVDWLCRGRLLQPALLKCKMHFD
GRKCKLLLTSVHEDDSGVYTCKLSTAKDELTCSARLTVRPSLAPLFTRLLEDVEVLEGRA
ARFDCKISGTPPPVVTWTHFGCPMEESENLRLRQDGGLHSLHIAHVGSEDEGLYAVSAVN
THGQAHCSAQLYVEEPRTAASGPSSKLEKMPSIPEEPEQGELERLSIPDFLRPLQDLEVG
LAKEAMLECQVTGLPYPTISWFHNGHRIQSSDDRRMTQYRDVHRLVFPAVGPQHAGVYKS
VIANKLGKAACYAHLYVTDVVPGPPDGAPQVVAVTGRMVTLTWNPPRSLDMAIDPDSLTY
TVQHQVLGSDQWTALVTGLREPGWAATGLRKGVQHIFRVLSTTVKSSSKPSPPSEPVQLL
EHGPTLEEAPAMLDKPDIVYVVEGQPASVTVTFNHVEAQVVWRSCRGALLEARAGVYELS
QPDDDQYCLRICRVSRRDMGALTCTARNRHGTQTCSVTLELAEAPRFESIMEDVEVGAGE
TARFAVVVEGKPLPDIMWYKDEVLLTESSHVSFVYEENECSLVVLSTGAQDGGVYTCTAQ
NLAGEVSCKAELAVHSAQTAMEVEGVGEDEDHRGRRLSDFYDIHQEIGRGAFSYLRRIVE
RSSGLEFAAKFIPSQAKPKASARREARLLARLQHDCVLYFHEAFERRRGLVIVTELCTEE
LLERIARKPTVCESEIRAYMRQVLEGIHYLHQSHVLHLDVKPENLLVWDGAAGEQQVRIC
DFGNAQELTPGEPQYCQYGTPEFVAPEIVNQSPVSGVTDIWPVGVVAFLCLTGISPFVGE
NDRTTLMNIRNYNVAFEETTFLSLSREARGFLIKVLVQDRLRPTAEETLEHPWFKTQAKG
AEVSTDHLKLFLSRRRWQRSQISYKCHLVLRPIPELLRAPPERVWVTMPRRPPPSGGLSS
SSDSEEEELEELPSVPRPLQPEFSGSRVSLTDIPTEDEALGTPETGAATPMDWQEQGRAP
SQDQEAPSPEALPSPGQEPAAGASPRRGELRRGSSAESALPRAGPRELGRGLHKAASVEL
PQRRSPSPGATRLARGGLGEGEYAQRLQALRQRLLRGGPEDGKVSGLRGPLLESLGGRAR
DPRMARAASSEAAPHHQPPLENRGLQKSSSFSQGEAEPRGRHRRAGAPLEIPVARLGARR
LQESPSLSALSEAQPSSPARPSAPKPSTPKSAEPSATTPSDAPQPPAPQPAQDKAPEPRP
EPVRASKPAPPPQALQTLALPLTPYAQIIQSLQLSGHAQGPSQGPAAPPSEPKPHAAVFA
RVASPPPGAPEKRVPSAGGPPVLAEKARVPTVPPRPGSSLSSSIENLESEAVFEAKFKRS
RESPLSLGLRLLSRSRSEERGPFRGAEEEDGIYRPSPAGTPLELVRRPERSRSVQDLRAV
GEPGLVRRLSLSLSQRLRRTPPAQRHPAWEARGGDGESSEGGSSARGSPVLAMRRRLSFT
LERLSSRLQRSGSSEDSGGASGRSTPLFGRLRRATSEGESLRRLGLPHNQLAAQAGATTP
SAESLGSEASATSGSSAPGESRSRLRWGFSRPRKDKGLSPPNLSASVQEELGHQYVRSES
DFPPVFHIKLKDQVLLEGEAATLLCLPAACPAPHISWMKDKKSLRSEPSVIIVSCKDGRQ
LLSIPRAGKRHAGLYECSATNVLGSITSSCTVAVARVPGKLAPPEVPQTYQDTALVLWKP
GDSRAPCTYTLERRVDGESVWHPVSSGIPDCYYNVTHLPVGVTVRFRVACANRAGQGPFS
NSSEKVFVRGTQDSSAVPSAAHQEAPVTSRPARARPPDSPTSLAPPLAPAAPTPPSVTVS
PSSPPTPPSQALSSLKAVGPPPQTPPRRHRGLQAARPAEPTLPSTHVTPSEPKPFVLDTG
TPIPASTPQGVKPVSSSTPVYVVTSFVSAPPAPEPPAPEPPPEPTKVTVQSLSPAKEVVS
SPGSSPRSSPRPEGTTLRQGPPQKPYTFLEEKARGRFGVVRACRENATGRTFVAKIVPYA
AEGKRRVLQEYEVLRTLHHERIMSLHEAYITPRYLVLIAESCGNRELLCGLSDRFRYSED
DVATYMVQLLQGLDYLHGHHVLHLDIKPDNLLLAPDNALKIVDFGSAQPYNPQALRPLGH
RTGTLEFMAPEMVKGEPIGSATDIWGAGVLTYIMLSGRSPFYEPDPQETEARIVGGRFDA
FQLYPNTSQSATLFLRKVLSVHPWSRPSLQDCLAHPWLQDAYLMKLRRQTLTFTTNRLKE
FLGEQRRRRAEAATRHKVLLRSYPGGP
Sequence length 3267
Interactions View interactions
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Causal
Disease name Disease term dbSNP ID References
Cardiomyopathy Cardiomyopathy, Dilated rs267607003, rs267607002, rs267607004, rs63750743, rs121908333, rs121908334, rs104894655, rs121434420, rs121434421, rs193922674, rs111517471, rs121908987, rs193922384, rs121909374, rs121909377, rs2856655, rs587776700, rs397514444, rs387906397, rs137854607, rs28935197, rs199473684, rs121964858, rs74315379, rs74315380, rs104894724, rs104894727, rs104894728, rs104894729, rs104894730, rs121917760, rs267607125, rs104894503, rs267607155, rs267607156, rs121918597, rs121918600, rs28933979, rs121918070, rs76992529, rs111033559, rs111033560, rs104894368, rs104894369, rs104894370, rs121913624, rs3218713, rs121913625, rs121913626, rs121913627, rs121913628, rs121913629, rs121913630, rs121913631, rs121913632, rs3218714, rs121913637, rs121913638, rs121913641, rs121913642, rs121913651, rs267606911, rs267606908, rs730880850, rs61046466, rs57520892, rs28933091, rs28933092, rs28933093, rs121913008, rs121913003, rs121912996, rs121912997, rs193922680, rs387906875, rs199474703, rs199476315, rs199476316, rs199476317, rs199476321, rs199476311, rs193922683, rs193922668, rs386134243, rs267607578, rs36211723, rs193922390, rs193922672, rs193922697, rs387907267, rs45546039, rs387907218, rs397515870, rs397515893, rs397515894, rs397515903, rs397515905, rs375882485, rs397515907, rs397515912, rs397515916, rs397515925, rs397515926, rs397515934, rs397515937, rs397515943, rs397515944, rs397515947, rs397515954, rs112738974, rs111729952, rs397515960, rs397515963, rs397515973, rs397515974, rs397515977, rs376395543, rs397515979, rs397515982, rs397515990, rs397515991, rs397515992, rs397516005, rs113358486, rs397516006, rs397516007, rs397516008, rs373746463, rs397516019, rs397516023, rs397516029, rs397516031, rs397516037, rs397516040, rs397516042, rs397516044, rs397516049, rs397516057, rs397516059, rs397516068, rs397516070, rs397516072, rs397516073, rs397516074, rs397516076, rs397516077, rs397516080, rs397516082, rs397516083, rs397516088, rs397516089, rs397516103, rs397516123, rs397516127, rs371898076, rs397516132, rs397516142, rs3218716, rs397516154, rs397516161, rs397516165, rs397516170, rs397516178, rs397516179, rs397516187, rs397516201, rs397516202, rs145213771, rs397516207, rs397516209, rs397516212, rs397516248, rs397516252, rs397516254, rs397516258, rs397516260, rs45516091, rs397516264, rs397516269, rs397516347, rs397516349, rs397516352, rs397516353, rs397516355, rs397516356, rs397516357, rs397516364, rs397516370, rs397516371, rs397516373, rs397516386, rs397516406, rs397516454, rs397516456, rs397516461, rs397516463, rs397516464, rs45525839, rs397516471, rs45578238, rs111377893, rs397516607, rs62636495, rs397516784, rs397516881, rs397516913, rs397516915, rs397516927, rs397516940, rs397516943, rs397516945, rs397516955, rs397516956, rs397516973, rs397516986, rs397516989, rs372827156, rs397516992, rs397516993, rs397516994, rs397516997, rs397517003, rs397517008, rs397517010, rs397517012, rs397517021, rs397517065, rs397517547, rs397517576, rs397517580, rs397517584, rs397517586, rs397517587, rs397517589, rs397517601, rs397517620, rs397517624, rs397517626, rs397517628, rs72646831, rs397517633, rs397517643, rs72646846, rs397517664, rs397517679, rs397517689, rs397517695, rs397517696, rs397517698, rs397517721, rs397517735, rs397517741, rs397517749, rs397517750, rs397517758, rs397517776, rs397517787, rs397517830, rs397517887, rs397517888, rs397517889, rs58013325, rs397517895, rs56984562, rs267607646, rs58917027, rs267607594, rs397517904, rs61195471, rs60682848, rs267607573, rs397517908, rs58978449, rs397517909, rs267607593, rs397517911, rs56816490, rs397517915, rs267607554, rs397514742, rs886041395, rs397515482, rs267607490, rs58999456, rs267607555, rs61672878, rs267607618, rs267607577, rs57730570, rs267607582, rs267607581, rs61444459, rs59270054, rs61661343, rs267607570, rs59026483, rs267607571, rs59332535, rs199473161, rs398123262, rs869320740, rs606231324, rs587782927, rs201754030, rs58389804, rs587782958, rs587782961, rs587782962, rs587782986, rs138049878, rs376897125, rs368765949, rs111569862, rs727504247, rs727503537, rs727504535, rs727504550, rs727504679, rs727503546, rs730880365, rs727504646, rs727505014, rs727505288, rs727503557, rs727503559, rs730880343, rs727503615, rs727504825, rs727503565, rs727504655, rs727505352, rs727504466, rs727504531, rs727503567, rs371678190, rs727503586, rs727505319, rs727503547, rs727505076, rs727505224, rs727503552, rs727504856, rs727504782, rs727504660, rs557312035, rs727505284, rs727504851, rs727504589, rs727504499, rs727504843, rs727504452, rs727503697, rs150974575, rs727504498, rs727503598, rs727503602, rs727503607, rs727504801, rs727504738, rs727505115, rs727505283, rs727505109, rs727504271, rs727504321, rs727504289, rs727503172, rs727503180, rs727503182, rs727504265, rs727504334, rs727503192, rs397515932, rs727504287, rs200411226, rs727503204, rs727504269, rs367947846, rs730880335, rs727502897, rs727503166, rs111683277, rs727503195, rs727503203, rs727503212, rs727503738, rs727504381, rs727504356, rs727503261, rs727504238, rs148808089, rs45544633, rs727503246, rs397516171, rs727503253, rs202141173, rs727504310, rs727503258, rs727503260, rs727504320, rs727504240, rs727503263, rs727503269, rs727503278, rs727504432, rs727504243, rs727504285, rs727503499, rs727503504, rs727504242, rs727504379, rs727504389, rs727504275, rs727504557, rs727502994, rs727504184, rs730880336, rs730880362, rs730880199, rs730880246, rs72648265, rs730880243, rs730880242, rs730880241, rs574660186, rs730880245, rs730880082, rs730880092, rs730880093, rs730880055, rs397515939, rs730881119, rs397516020, rs730880675, rs730880719, rs730880672, rs730880671, rs730880718, rs730880666, rs730880717, rs730880655, rs730880715, rs730880654, rs730880714, rs730880651, rs730880648, rs730880713, rs730880546, rs730880695, rs730880533, rs730880531, rs730880639, rs730880689, rs730880686, rs730880629, rs368121566, rs375607980, rs730880704, rs730880698, rs730880750, rs730880748, rs730880875, rs730880845, rs1565623093, rs786204339, rs786204336, rs786204392, rs786204388, rs786204950, rs786204951, rs794727381, rs760576804, rs112188483, rs794728597, rs794728606, rs794728593, rs59564495, rs190140598, rs794728826, rs794728803, rs794728106, rs149701627, rs1554108152, rs770873593, rs794728124, rs141026028, rs794728094, rs794729098, rs794729116, rs764817683, rs751288871, rs201405287, rs794729137, rs794729133, rs766209297, rs767987619, rs769220833, rs794729120, rs112240298, rs748382770, rs794729365, rs794729301, rs757451467, rs794729359, rs794729354, rs794729353, rs794729285, rs794729284, rs794729338, rs794729332, rs368452607, rs794729278, rs794729325, rs794729324, rs754866489, rs794729265, rs751502842, rs794729320, rs794729380, rs748313513, rs797046064, rs863225113, rs863225106, rs761507504, rs864622224, rs1057515421, rs751039219, rs869025555, rs869025546, rs869025554, rs869025559, rs869025545, rs869025558, rs869025557, rs200797552, rs869025550, rs869025549, rs869025544, rs869025552, rs869025548, rs869025556, rs770029258, rs869025523, rs869025398, rs869025399, rs869025395, rs869025365, rs869025469, rs869025483, rs749838192, rs869312028, rs869312037, rs869312038, rs869312039, rs869312040, rs869312041, rs869312042, rs869312044, rs869312046, rs373040154, rs869312047, rs869312048, rs869312049, rs869312050, rs869312051, rs869312052, rs869312054, rs869312055, rs777602537, rs869312056, rs869312057, rs869312058, rs869312059, rs869312060, rs770038577, rs869312061, rs869312062, rs869312063, rs869312064, rs869312065, rs869312066, rs869312067, rs869312068, rs869312069, rs771562210, rs869312070, rs869312071, rs759231562, rs869312072, rs869312073, rs764243269, rs768345594, rs869312074, rs869312075, rs869312076, rs869312077, rs869312078, rs869312079, rs869312080, rs772121356, rs869312081, rs869312082, rs72648250, rs869312083, rs869312084, rs869312085, rs869312086, rs869312087, rs869312100, rs779129892, rs756367933, rs869312102, rs869312103, rs869312104, rs869312105, rs869312106, rs770767998, rs869312107, rs775186117, rs869312108, rs869312109, rs869312110, rs869312111, rs755261062, rs869312112, rs763824247, rs869312113, rs869312114, rs869312115, rs869312116, rs774604740, rs869312117, rs779996703, rs869312118, rs869312119, rs869312120, rs869312121, rs869312122, rs869312045, rs753948675, rs878854371, rs794728589, rs876657650, rs727503512, rs876658027, rs876657672, rs876657671, rs868494032, rs876657670, rs780512337, rs876657669, rs876657668, rs876657666, rs876657665, rs876657664, rs876657663, rs148894066, rs876657634, rs869248137, rs876657705, rs876657704, rs727503213, rs869025496, rs876657662, rs876657884, rs36211715, rs878855234, rs879255521, rs879255639, rs886038928, rs751746401, rs886039030, rs869038795, rs886039343, rs2069544, rs1114167341, rs1114167340, rs886041322, rs886042331, rs886043718, rs747662439, rs886043924, rs773840992, rs886044536, rs1057517903, rs754354190, rs779650200, rs902082118, rs1057518920, rs1057519457, rs1057523045, rs370072439, rs1064792916, rs1060500495, rs1060500575, rs926741242, rs774763657, rs746877365, rs1060500610, rs1060501484, rs1060501479, rs1064792928, rs1060501443, rs1060499604, rs1064793814, rs1064796347, rs977277400, rs1064793429, rs745811346, rs1064794350, rs1555142963, rs1064793983, rs769665204, rs751261054, rs769139957, rs1131691873, rs1131691655, rs1131691673, rs1464253797, rs1408345511, rs1553603152, rs1554398705, rs1322596650, rs1553539995, rs1553611989, rs749961489, rs1444727212, rs1243301263, rs971618751, rs1553662326, rs1389777522, rs764985774, rs1554108287, rs1554105911, rs1249913357, rs1554108012, rs111806457, rs1402879259, rs748416758, rs794727046, rs1425855043, rs869178171, rs1432810664, rs749465164, rs878898365, rs1419374180, rs770878165, rs1553503113, rs1553691320, rs1553577362, rs1553603456, rs1417036453, rs1553741321, rs1553479603, rs1553607425, rs974671846, rs1420159591, rs745688425, rs1554875409, rs1555144459, rs1555338080, rs1555338574, rs1555148035, rs200889953, rs1401116572, rs1285329277, rs974510652, rs1263987728, rs1555122928, rs992189342, rs1555142971, rs1553261855, rs1553265647, rs1553488049, rs1553644307, rs1553663867, rs1553940122, rs28763965, rs758891557, rs762110595, rs1555436118, rs1555435531, rs565910322, rs376766195, rs1562168768, rs763443331, rs1562169661, rs1370579526, rs1561703922, rs1564773559, rs1559003939, rs1559598775, rs1559415567, rs1559877046, rs776970935, rs553526525, rs1561698362, rs1561694696, rs1561702640, rs730880751, rs1060505018, rs766330686, rs1565631430, rs1565050320, rs876657767, rs1565053085, rs1565053147, rs1557778277, rs1557776329, rs886039136, rs771262904, rs727504314, rs1563000044, rs541612157, rs766265889, rs1558988204, rs1559051231, rs1559262463, rs1559448864, rs1559469421, rs1559556267, rs1559746821, rs1559873786, rs1561323791, rs1561445221, rs1561686893, rs1561698714, rs1561702549, rs1565623439, rs1565623713, rs1565626367, rs1565627110, rs1565627145, rs397515889, rs1565628520, rs774316050, rs1592798444, rs1565590309, rs1566967399, rs1569552936, rs1559712733, rs1561690319, rs1561701721, rs869125101, rs1595843553, rs1576018303, rs746115846, rs777315336, rs1431206462, rs1572358674, rs1477669354, rs1575584918, rs1575614351, rs72648222, rs1575799625, rs1576014673, rs1576147786, rs747469275, rs1581805658, rs1227662860, rs1585169831, rs1592729525, rs762753884, rs1596155145, rs1572358821, rs991187915, rs1575649368, rs1060500562, rs1450218521, rs775256998, rs1572332762, rs1571627006, rs1575253896, rs1575616801, rs1575775337, rs1575948935, rs1574083547, rs1574087037, rs1589632398, rs1585171818, rs1603365762, rs768079285, rs1575663327, rs1575796530, rs1574659116, rs267607001, rs1567093598, rs1572359848, rs1060500505, rs1575512482, rs1575872984, rs1161735211, rs1576141328, rs906494713, rs1576685753, rs1266489077, rs1581813564, rs778808038, rs397516363, rs1596386673, rs1575610911, rs727503266, rs1603377936, rs777702465, rs1708504899, rs2054381012, rs1575285509, rs1695435412, rs1699247877, rs879139686, rs2060187635, rs761380979, rs1464886350, rs1956192035, rs752522753, rs1205836993, rs2095894178
Centronuclear myopathy Autosomal Recessive Centronuclear Myopathy rs80356529, rs121909089, rs121909090, rs121909091, rs121909092, rs121909095, rs132630304, rs587783791, rs397518445, rs132630306, rs122458143, rs587783594, rs587783595, rs587783597, rs587783598, rs587783832, rs587783838, rs587783841, rs587783771, rs587783772, rs587783781, rs574660186, rs794729338, rs587783752, rs878854372, rs926741242, rs1293675104, rs768407867, rs773598203, rs1555715869, rs781933660, rs1332371891, rs756870293, rs1568454672, rs1600843056, rs866050664, rs2093158866, rs776252106, rs756847750, rs2070649864 25087613
Gastric cancer Gastric Adenocarcinoma rs137854571, rs63751108, rs34612342, rs121908383, rs121909144, rs121909775, rs121909219, rs121909223, rs63750871, rs80359530, rs121964873, rs121913530, rs606231203, rs121918505, rs587776802, rs28933369, rs121912469, rs80358011, rs397507262, rs80359439, rs397507333, rs80359543, rs80358831, rs80359596, rs80358920, rs80358972, rs80359659, rs397507404, rs397514661, rs80359516, rs200495564, rs80358419, rs80359274, rs80359283, rs80358427, rs80358428, rs80358435, rs81002805, rs397507660, rs397507663, rs80359391, rs80359443, rs81002797, rs80359466, rs397507752, rs80359484, rs80359603, rs397507954, rs80359058, rs80359071, rs397507981, rs80359121, rs80357086, rs80357064, rs397508936, rs80357695, rs80357661, rs397509035, rs80357544, rs80357577, rs80357881, rs80357296, rs80356923, rs80356866, rs80357504, rs80357390, rs80357239, rs80358099, rs397509284, rs80357258, rs199474738, rs199474747, rs587779204, rs63750439, rs267608076, rs587779246, rs63749999, rs267608078, rs63751327, rs267607719, rs267607734, rs63750706, rs63751711, rs587779047, rs587779075, rs267607949, rs63750633, rs63750803, rs63751618, rs267608154, rs200640585, rs80358018, rs80357857, rs80357882, rs180177103, rs587779815, rs587779865, rs587779872, rs587780059, rs121912666, rs587780088, rs587780104, rs200432447, rs180177100, rs587780226, rs587780784, rs587776416, rs587781276, rs587781629, rs587781694, rs587781727, rs587781730, rs587781807, rs587781894, rs587781948, rs121913344, rs587782292, rs587782350, rs587782558, rs587782719, rs587782885, rs587783057, rs730881833, rs730881411, rs730881336, rs139770721, rs730881869, rs730881633, rs730882007, rs786203115, rs765123255, rs1553333738, rs762083530, rs786202800, rs17174393, rs55996097, rs750621215, rs786203451, rs747604569, rs764389018, rs786204433, rs786204862, rs772821016, rs779582317, rs863225406, rs193922343, rs759965045, rs63749919, rs760228510, rs746481984, rs762307622, rs876659736, rs876660933, rs747727055, rs1450394308, rs876658348, rs876658431, rs876659326, rs876660444, rs730881369, rs878853865, rs753862052, rs587780024, rs138941496, rs886040739, rs886040744, rs886040347, rs878854957, rs886040123, rs398122662, rs886040942, rs1057517104, rs1057516320, rs1057516683, rs879254046, rs1057517253, rs587781927, rs985033810, rs1057519989, rs775464903, rs374230313, rs758304323, rs1060501599, rs758081262, rs1060500126, rs1060502734, rs587776408, rs1060501695, rs1114167816, rs1114167596, rs1114167667, rs1555460315, rs1135402788, rs1554086196, rs730881919, rs773356478, rs769237459, rs1553653158, rs587782087, rs1555107263, rs1555119940, rs1403784434, rs1342519012, rs751710099, rs1553616361, rs1553619721, rs1270783041, rs775036118, rs1555288557, rs1555460548, rs1555461154, rs1298667185, rs1553622218, rs63751101, rs1349928568, rs771936821, rs1021662947, rs1555921011, rs81002831, rs1555124506, rs1555574803, rs1060502716, rs1555605362, rs747057367, rs1565385010, rs1567554500, rs1567516230, rs1558644995, rs1555591308, rs778306619, rs1566231194, rs1603328466, rs1570406302, rs1586108714, rs768362387, rs1597713777, rs1060502926, rs1597867185, rs1591517571, rs1591663236, rs1593903006, rs1555284779, rs1597096243, rs45459799, rs1597360340, rs587781905, rs864622481, rs1601753141, rs1966858562, rs1966967065, rs1967016153, rs1967113484, rs2080473458, rs1591387978, rs1224428422, rs1597747184, rs2082309297, rs2051929740, rs147542208
Left ventricular hypertrophy Left Ventricular Hypertrophy rs397516037
Unknown
Disease name Disease term dbSNP ID References
Amyotrophy Generalized amyotrophy
Congenital clubfoot Congenital clubfoot
Dysarthria Dysarthria
Facial paralysis Facial paralysis

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