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KLHL41 (kelch like family member 41)
Gene
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10324
Gene nameGene Name - the full gene name approved by the HGNC.
Kelch like family member 41
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
KLHL41
SynonymsGene synonyms aliases
KBTBD10, Krp1, SARCOSIN
ChromosomeChromosome number
2
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q31.1
SummarySummary of gene provided in NCBI Entrez Gene.
This gene is a member of the kelch-like family. The encoded protein contains a BACK domain, a BTB/POZ domain, and 5 Kelch repeats. This protein is thought to function in skeletal muscle development and maintenance. Mutations in this gene have been associa
SNPsSNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
SNP ID Visualize variation Clinical significance Consequence
rs730882235 A>- Pathogenic, likely-pathogenic Coding sequence variant, frameshift variant
rs730882257 T>ACTC Pathogenic Inframe insertion, coding sequence variant
rs730882258 AGGAAATA>- Pathogenic Coding sequence variant, frameshift variant
rs730882259 AAG>- Pathogenic Inframe deletion, coding sequence variant
rs730882260 C>T Pathogenic Missense variant, coding sequence variant
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0001726 Component Ruffle IEA
GO:0005515 Function Protein binding IPI 23414517, 25416956, 32296183, 32814053
GO:0005654 Component Nucleoplasm IDA
GO:0005737 Component Cytoplasm IDA 19424503
GO:0005789 Component Endoplasmic reticulum membrane IDA 24268659
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID O60662
Protein name Kelch-like protein 41 (Kel-like protein 23) (Kelch repeat and BTB domain-containing protein 10) (Kelch-related protein 1) (Sarcosin)
Protein function Involved in skeletal muscle development and differentiation. Regulates proliferation and differentiation of myoblasts and plays a role in myofibril assembly by promoting lateral fusion of adjacent thin fibrils into mature, wide myofibrils. Requi
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00651 BTB
23 → 130
BTB/POZ domain
 Domain
PF07707 BACK
135 → 237
BTB And C-terminal Kelch
 Domain
PF01344 Kelch_1
334 → 385
Kelch motif
 Repeat
PF01344 Kelch_1
387 → 434
Kelch motif
 Repeat
PF01344 Kelch_1
437 → 482
Kelch motif
 Repeat
PF01344 Kelch_1
484 → 529
Kelch motif
 Repeat
Sequence
Sequence length 606
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
 
Reactome
    Neddylation
Antigen processing: Ubiquitination & Proteasome degradation
Associated diseases
Gene SNPs Gene ontology Other IDs Protein Pathways 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, Myopathies, Nemaline 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 9, Intermediate nemaline myopathy, Typical nemaline myopathy, 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 24268659, 24268659, 28939701, 28826497
Unknown
Disease name Disease term dbSNP ID References
Pulmonary hypoplasia Congenital hypoplasia of lung rs1569032634
Congenital nemaline myopathy Severe congenital nemaline myopathy
Congenital pectus excavatum Congenital pectus excavatum
Dysphagia Deglutition Disorders

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