KBTBD13 (kelch repeat and BTB domain containing 13)

Gene

• Entrez ID: 390594
• Gene name: Kelch repeat and BTB domain containing 13
• Gene symbol: KBTBD13
• Synonyms: HCG1645727, NEM6
• Chromosome: 15
• Chromosome location: 15q22.31
• Summary: The gene belongs to a family of genes encoding proteins containing a BTB domain and several kelch repeats. The BTB domain functions as a protein-protein interaction module, which includes an ability to self-associate or to interact with non-BTB domain-con

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT709033	hsa-miR-4639-3p	HITS-CLIP	19536157
MIRT709032	hsa-miR-6515-3p	HITS-CLIP	19536157
MIRT709031	hsa-miR-1236-3p	HITS-CLIP	19536157
MIRT709030	hsa-miR-4778-3p	HITS-CLIP	19536157
MIRT709029	hsa-miR-627-3p	HITS-CLIP	19536157
MIRT709028	hsa-miR-8064	HITS-CLIP	19536157
MIRT709027	hsa-miR-1299	HITS-CLIP	19536157
MIRT709026	hsa-miR-516b-5p	HITS-CLIP	19536157
MIRT709025	hsa-miR-4782-5p	HITS-CLIP	19536157
MIRT709024	hsa-miR-5706	HITS-CLIP	19536157
MIRT709023	hsa-miR-507	HITS-CLIP	19536157
MIRT709022	hsa-miR-557	HITS-CLIP	19536157
MIRT709033	hsa-miR-4639-3p	HITS-CLIP	19536157
MIRT709032	hsa-miR-6515-3p	HITS-CLIP	19536157
MIRT709031	hsa-miR-1236-3p	HITS-CLIP	19536157
MIRT709030	hsa-miR-4778-3p	HITS-CLIP	19536157
MIRT709029	hsa-miR-627-3p	HITS-CLIP	19536157
MIRT709028	hsa-miR-8064	HITS-CLIP	19536157
MIRT709027	hsa-miR-1299	HITS-CLIP	19536157
MIRT709026	hsa-miR-516b-5p	HITS-CLIP	19536157
MIRT709025	hsa-miR-4782-5p	HITS-CLIP	19536157
MIRT709024	hsa-miR-5706	HITS-CLIP	19536157
MIRT709023	hsa-miR-507	HITS-CLIP	19536157
MIRT709022	hsa-miR-557	HITS-CLIP	19536157
MIRT1079500	hsa-miR-101	CLIP-seq
MIRT1079501	hsa-miR-125a-5p	CLIP-seq
MIRT1079502	hsa-miR-125b	CLIP-seq
MIRT1079503	hsa-miR-144	CLIP-seq
MIRT1079504	hsa-miR-3157-5p	CLIP-seq
MIRT1079505	hsa-miR-342-3p	CLIP-seq
MIRT1079506	hsa-miR-377	CLIP-seq
MIRT1079507	hsa-miR-4319	CLIP-seq
MIRT1079508	hsa-miR-4635	CLIP-seq
MIRT1079509	hsa-miR-4691-3p	CLIP-seq
MIRT1079510	hsa-miR-4732-3p	CLIP-seq
MIRT1079511	hsa-miR-4753-5p	CLIP-seq
MIRT1079512	hsa-miR-512-5p	CLIP-seq
MIRT1079513	hsa-miR-526b	CLIP-seq
MIRT1079514	hsa-miR-603	CLIP-seq
MIRT1079515	hsa-miR-670	CLIP-seq
MIRT2019801	hsa-miR-185	CLIP-seq
MIRT2019802	hsa-miR-24	CLIP-seq
MIRT2019803	hsa-miR-3155	CLIP-seq
MIRT2019804	hsa-miR-3155b	CLIP-seq
MIRT1079504	hsa-miR-3157-5p	CLIP-seq
MIRT1079505	hsa-miR-342-3p	CLIP-seq
MIRT1079506	hsa-miR-377	CLIP-seq
MIRT2019805	hsa-miR-4264	CLIP-seq
MIRT2019806	hsa-miR-4306	CLIP-seq
MIRT2019807	hsa-miR-4528	CLIP-seq
MIRT2019808	hsa-miR-4644	CLIP-seq
MIRT2019809	hsa-miR-4645-5p	CLIP-seq
MIRT2019810	hsa-miR-4673	CLIP-seq
MIRT1079509	hsa-miR-4691-3p	CLIP-seq
MIRT2019811	hsa-miR-4704-3p	CLIP-seq
MIRT1079511	hsa-miR-4753-5p	CLIP-seq
MIRT2019812	hsa-miR-483-3p	CLIP-seq
MIRT2019813	hsa-miR-484	CLIP-seq
MIRT2019814	hsa-miR-508-5p	CLIP-seq
MIRT1079512	hsa-miR-512-5p	CLIP-seq
MIRT1079514	hsa-miR-603	CLIP-seq
MIRT1079500	hsa-miR-101	CLIP-seq
MIRT1079501	hsa-miR-125a-5p	CLIP-seq
MIRT1079502	hsa-miR-125b	CLIP-seq
MIRT1079503	hsa-miR-144	CLIP-seq
MIRT1079504	hsa-miR-3157-5p	CLIP-seq
MIRT1079505	hsa-miR-342-3p	CLIP-seq
MIRT1079506	hsa-miR-377	CLIP-seq
MIRT2251665	hsa-miR-3922-5p	CLIP-seq
MIRT2251666	hsa-miR-3945	CLIP-seq
MIRT1079507	hsa-miR-4319	CLIP-seq
MIRT1079509	hsa-miR-4691-3p	CLIP-seq
MIRT1079510	hsa-miR-4732-3p	CLIP-seq
MIRT1079511	hsa-miR-4753-5p	CLIP-seq
MIRT1079512	hsa-miR-512-5p	CLIP-seq
MIRT1079514	hsa-miR-603	CLIP-seq
MIRT1079515	hsa-miR-670	CLIP-seq
MIRT2452139	hsa-miR-1827	CLIP-seq
MIRT2452140	hsa-miR-3915	CLIP-seq
MIRT2452141	hsa-miR-3928	CLIP-seq
MIRT2452142	hsa-miR-940	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005829	Component	Cytosol	TAS
GO:0007015	Process	Actin filament organization	IEA
GO:0014728	Process	Regulation of the force of skeletal muscle contraction	IMP	31671076
GO:0016567	Process	Protein ubiquitination	IEA
GO:0043687	Process	Post-translational protein modification	TAS
GO:0051015	Function	Actin filament binding	IEA
GO:0090076	Process	Relaxation of skeletal muscle	IMP	31671076

Other IDs

• MIM: 613727
• HGNC: 37227
• e!Ensembl: ENSG00000234438

Protein

• UniProt ID: C9JR72
• Protein name: Kelch repeat and BTB domain-containing protein 13
• Protein function: Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00651	BTB	6 → 105	BTB/POZ domain	Domain
  PF01344	Kelch_1	198 → 245	Kelch motif	Repeat
  PF01344	Kelch_1	247 → 292	Kelch motif	Repeat

• Sequence:

  MARGPQTLVQVWVGGQLFQADRALLVEHCGFFRGLFRSGMRETRAAEVRLGVLSAGGFRA
  TLQVLRGDRPALAAEDELLQAVECAAFLQAPALARFLEHNLTSDNCALLCDAAAAFGLRD
  VFHSAALFICDGERELAAELALPEARAYVAALRPSSYAAVSTHTPAPGFLEDASRTLCYL
  DEEEDAWRTLAALPLEASTLLAGVATLGNKLYIVGGVRGASKEVVELGFCYDPDGGTWHE
  FPSPHQPRYDTALAGFDGRLYAIGGEFQRTPISSVERYDPAAGCWSFVADLPQPAAGVPC
  AQACGRLFVCLWRPADTTAVVEYAVRTDAWLPVAELRRPQSYGHCMVAHRDSLYVVRNGP
  SDDFLHCAIDCLNLATGQWTALPGQFVNSKGALFTAVVRGDTVYTVNRMFTLLYAIEGGT
  WRLLREKAGFPRPGSLQTFLLRLPPGAPGPVTSTTAEL

• Sequence length: 458

Pathways

Reactome:

Neddylation
Antigen processing: Ubiquitination & Proteasome degradation

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Arthrogryposis multiplex congenita	Arthrogryposis	rs1586285494, rs80358233, rs137853305, rs1559154278, rs398124167, rs398124172, rs587780399, rs786204576, rs786204430, rs769345284, rs749355583, rs793888524, rs793888525, rs878854368, rs555445835, rs758105619, rs886041851, rs794727136, rs755239192, rs760715690, rs773952935, rs112610938, rs1057516676, rs1057516996, rs780022652, rs1057517399, rs1057517360, rs1057518353, rs1057517977, rs1064796311, rs779232987, rs775997446, rs1064797093, rs1064797094, rs1064797095, rs755500591, rs754272530, rs758247804, rs200731870, rs747179265, rs1553740233, rs776569219, rs375628303, rs775631800, rs781667543, rs1553548666, rs928945364, rs763364977, rs1458048713, rs1553883480, rs1472403020, rs1336053002, rs202048855, rs1197561990, rs755531536, rs1554112524, rs762133567, rs1553555882, rs934111355, rs1255744452, rs1366269616, rs1555734932, rs1553548207, rs752582527, rs1257495033, rs113525641, rs755863625, rs374929094, rs539819851, rs1366853918, rs1218073575, rs1553537512, rs1553552384, rs747564597, rs776059611, rs756726488, rs1357811155, rs1553939600, rs772009599, rs1255445731, rs1011425121, rs1553561697, rs1553551748, rs1553552413, rs760935667, rs1553603400, rs1302373559, rs1389892619, rs1553710982, rs757157808, rs1180339426, rs761964375, rs1235589246, rs1443738549, rs1553934586, rs1553934597, rs1553603437, rs749452641, rs1553904694, rs754369875, rs112517981, rs774495973, rs1428597732, rs746999970, rs113091511, rs1553603958, rs1553469502, rs770797137, rs1553608621, rs1159756073, rs776167256, rs778593702, rs1553601066, rs1553689774, rs760768475, rs1559296376, rs201636991, rs1559039815, rs748922882, rs772366030, rs1207534366, rs1259297878, rs762780413, rs1559360386, rs1559940778, rs760200697, rs1344099907, rs750900690, rs1559168230, rs746177326, rs761067911, rs1323364980, rs537560378, rs1319778592, rs1340063197, rs1577833924, rs750585238, rs1600470099, rs1575714905, rs1576203853, rs779909544, rs760124743, rs2096362304, rs1212374733, rs1490309743, rs767709270, rs1374971806, rs2096491549, rs2097886912, rs2099021112, rs2097758221, rs1474341248, rs925947627
Cardiomyopathy	Cardiomyopathies	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
Myopathy	Myopathy	rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166, rs193922856, rs281865489, rs397514675, rs397514676, rs397514677, rs367543058, rs118192117, rs193922837, rs118192129, rs118192143, rs118192153, rs118192133, rs118192156, rs118192149, rs118192148, rs118192183, rs118192147, rs118192123, rs118192127, rs118192142, rs118192144, rs118192178, rs118192151, rs118192150, rs118192184, rs118192154, rs118192134, rs118192155, rs193922893, rs118192132, rs118192146, rs193922867, rs193922884, rs587777528, rs527236030, rs587777672, rs587777673, rs587777674, rs587777675, rs587783343, rs2754158, rs786204796, rs748277951, rs797046047, rs797046064, rs797046060, rs797045479, rs797045931, rs797045932, rs797045934, rs797045935, rs797045477, rs797045478, rs1057518851, rs1057518855, rs1057518773, rs1057518866, rs1555322610, rs1555806119, rs761483896, rs144071404, rs1198364572, rs1568614042, rs978984063, rs1568604308, rs1332371891, rs1601842249, rs777176261, rs1249621033, rs1278804520, rs1568613962, rs1568510406, rs1597512576, rs193922887, rs371455345, rs1603452200, rs1599634685, rs1575065895, rs1575201712, rs139715157, rs1974129338
Nemaline myopathy	Nemaline Myopathy, Childhood Onset, Nemaline myopathy 6, Childhood-onset nemaline myopathy	rs80358250, rs80358249, rs121964854, rs1057515573, rs1057515574, rs121913662, rs1057515575, rs1364598710, rs387907090, rs397509419, rs367579275, rs397509420, rs397509421, rs398124167, rs398124172, rs587780271, rs587780272, rs587780397, rs587780399, rs727502797, rs724159964, rs727502799, rs724159965, rs730882257, rs730882258, rs730882235, rs730882259, rs730882260, rs786204576, rs786204430, rs769345284, rs794727136, rs797045098, rs797045735, rs797044606, rs869312740, rs878854368, rs555445835, rs762278237, rs758105619, rs886041851, rs755239192, rs80344795, rs886043631, rs773952935, rs112610938, rs1057516676, rs1057516348, rs1057516996, rs1057516758, rs1057517317, rs780022652, rs1057516381, rs1057517399, rs1057516938, rs1057516739, rs1057517360, rs1057518200, rs1057517977, rs1057519128, rs1057519129, rs375145370, rs1057524581, rs758188096, rs1131691547, rs1553255357, rs754272530, rs1553255362, rs1553526884, rs1553564693, rs1553605995, rs1386238241, rs200731870, rs747179265, rs1330332139, rs1553740233, rs776569219, rs781185019, rs375628303, rs1553862061, rs1553934562, rs1553484601, rs775631800, rs781667543, rs1553556154, rs1553770146, rs1553875421, rs1553896522, rs1553469514, rs1553548666, rs1426709672, rs1274699363, rs1555855228, rs928945364, rs763364977, rs1458048713, rs191579691, rs1472403020, rs761232641, rs1336053002, rs202048855, rs1197561990, rs755531536, rs762133567, rs1553555882, rs1371849916, rs934111355, rs934955715, rs1553862274, rs113326313, rs1255744452, rs1553502168, rs139588377, rs752493018, rs1555859304, rs866309952, rs1191429915, rs112687345, rs1421095081, rs1553548207, rs752582527, rs1257495033, rs1553603690, rs1553623367, rs1553627466, rs1488066635, rs1553519860, rs113525641, rs1553526619, rs1553642332, rs1553646540, rs755863625, rs1553679273, rs1553688242, rs1337287633, rs1332061304, rs1553715579, rs374929094, rs539819851, rs1553518813, rs1553519124, rs1553520609, rs1553548771, rs1553891733, rs1366853918, rs1218073575, rs1553537512, rs1553548752, rs1553552384, rs1553530144, rs1553551650, rs747564597, rs1553915731, rs1390379576, rs776059611, rs756726488, rs1357811155, rs1553555768, rs1553536267, rs1553939284, rs1553939600, rs113290650, rs772009599, rs1255445731, rs1266535163, rs1553561525, rs1011425121, rs193042896, rs1423137705, rs1553561665, rs1553548018, rs1553561697, rs1553948395, rs1553551748, rs1553963973, rs1553552413, rs1553556275, rs1553561211, rs1553615846, rs781120931, rs760935667, rs755970391, rs765403861, rs1553603400, rs1302373559, rs1553603438, rs1389892619, rs1553710982, rs757157808, rs1180407562, rs1553644243, rs1553983416, rs1553990438, rs1446930968, rs1553755829, rs1553757097, rs1180339426, rs557870969, rs1553468960, rs761964375, rs1235589246, rs1443738549, rs1553934586, rs1553517128, rs1553678967, rs1553695209, rs1553695557, rs1553538835, rs1553934597, rs1553539777, rs1553939660, rs1553557405, rs1553939774, rs1185654671, rs1242775893, rs143644938, rs1553717306, rs1553963960, rs1553686994, rs1373493309, rs1553448527, rs1553694860, rs1553603437, rs1553457607, rs1553603933, rs1553763404, rs1475648900, rs1553769576, rs1553487838, rs749452641, rs760082702, rs767693366, rs1553904694, rs111300270, rs1553930053, rs1553939648, rs754369875, rs1553770178, rs112517981, rs1553886582, rs774495973, rs1553512813, rs1342507012, rs1428597732, rs1553939806, rs746999970, rs1553901249, rs1553933986, rs1553947423, rs1553938571, rs1553964158, rs113091511, rs1553472127, rs1553962493, rs1553565278, rs756363951, rs1553579092, rs1553593177, rs1553603958, rs1553468939, rs1553607505, rs1553469502, rs770797137, rs1553495140, rs1553608621, rs1159756073, rs776167256, rs1553642811, rs1553501889, rs1553542669, rs1553558398, rs1220787593, rs374562457, rs1553689057, rs778593702, rs1553568167, rs1553580540, rs1553586486, rs1553601066, rs750585238, rs752893483, rs1553689774, rs1560283028, rs1559580467, rs1560031341, rs1559296376, rs201636991, rs1559039815, rs775513051, rs1559534672, rs748922882, rs112544116, rs780343350, rs772366030, rs1247404453, rs1186218257, rs2085385176, rs1156410888, rs1259297878, rs762780413, rs1559360386, rs1037388276, rs1559940778, rs760200697, rs1344099907, rs750900690, rs777819332, rs1559573882, rs1559168230, rs761067911, rs1574981296, rs1323364980, rs537560378, rs752267876, rs1576695735, rs370098540, rs1577244250, rs1577886635, rs1577890764, rs555516831, rs1578011278, rs1553862114, rs1319778592, rs1560499498, rs1574014358, rs1574526903, rs776982138, rs1574820458, rs1575122070, rs1575295628, rs1575358650, rs1576517390, rs1576600442, rs1576704575, rs1577548638, rs1340063197, rs1574349645, rs1288106608, rs752734208, rs1575218831, rs1574772311, rs1576819152, rs1458096844, rs1577833924, rs1577636079, rs1578868550, rs1574741105, rs1575219191, rs1405498595, rs1575024425, rs1577253760, rs756352186, rs1368453406, rs199655993, rs1594784544, rs1559207733, rs1575305566, rs1575714905, rs1576203853, rs1392500142, rs779909544, rs1575218072, rs1599875856, rs1575668113, rs753417634, rs552379239, rs778303947, rs1212374733, rs1490309743, rs767709270, rs769824247, rs1374971806, rs781754253, rs1553545126, rs2079459982, rs2084059565, rs2084217268, rs2093334853, rs2096491549, rs2096504394, rs2097449114, rs2097452910, rs1578869371, rs1326513178, rs2097713802, rs2097759896, rs2097886912, rs2098013713, rs763541152, rs2098910159, rs2098919758, rs2099021112, rs2099075936, rs2099082250, rs2099118606, rs2099191297, rs757999917, rs2099785680, rs778022582, rs1177405905, rs2097571378, rs2099350888, rs2097758221, rs1553711195, rs747946275, rs2099076059, rs2085439767, rs2085575423, rs925947627	21104864, 21109227, 12805120
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085

Unknown
Disease name	Disease term	dbSNP ID	References
High palate	Byzanthine arch palate
Limb muscle atrophy	Generalized limb muscle atrophy
Micrognathism	Micrognathism
Motor delay	Clumsiness - motor delay
Neuromuscular dysphagia	Neuromuscular dysphagia
Pena shokeir syndrome	Pena-Shokeir syndrome type I
Ptosis	Blepharoptosis, Ptosis	rs139920573