TRIM37 (tripartite motif containing 37)
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| Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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4591 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Tripartite motif containing 37 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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TRIM37 |
SynonymsGene synonyms aliases
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MUL, POB1, TEF3 |
ChromosomeChromosome number
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17 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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17q22 |
SummarySummary of gene provided in NCBI Entrez Gene.
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This gene encodes a member of the tripartite motif (TRIM) family, whose members are involved in diverse cellular functions such as developmental patterning and oncogenesis. The TRIM motif includes zinc-binding domains, a RING finger region, a B-box motif |
SNPsSNP information provided by dbSNP.
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| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
| rs112762655 |
C>A,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, non coding transcript variant, missense variant |
| rs121908391 |
C>G |
Pathogenic |
5 prime UTR variant, intron variant, coding sequence variant, non coding transcript variant, missense variant |
| rs373520509 |
G>A,T |
Pathogenic |
Synonymous variant, stop gained, coding sequence variant, 5 prime UTR variant, non coding transcript variant |
| rs386833416 |
C>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs386833999 |
->ATCT |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs386834000 |
->T |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs386834001 |
G>A,C |
Likely-pathogenic, pathogenic |
Non coding transcript variant, stop gained, coding sequence variant, missense variant |
| rs386834002 |
CT>- |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs386834003 |
G>A |
Likely-pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
| rs386834004 |
A>G |
Likely-pathogenic |
Non coding transcript variant, missense variant, coding sequence variant, 5 prime UTR variant |
| rs386834006 |
C>A,T |
Likely-pathogenic |
Intron variant, splice acceptor variant |
| rs386834007 |
AAGTA>- |
Likely-pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs386834008 |
C>T |
Pathogenic-likely-pathogenic, likely-pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, missense variant |
| rs386834009 |
C>A |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
| rs761042752 |
T>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
| rs886039445 |
T>C |
Likely-pathogenic |
Splice acceptor variant, synonymous variant, coding sequence variant, intron variant, non coding transcript variant |
| rs1599230814 |
->GCGAGTAAGTC |
Likely-pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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| Protein
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| UniProt ID |
O94972 |
| Protein name |
E3 ubiquitin-protein ligase TRIM37 (EC 2.3.2.27) (Mulibrey nanism protein) (RING-type E3 ubiquitin transferase TRIM37) (Tripartite motif-containing protein 37) |
| Protein function |
E3 ubiquitin-protein ligase required to prevent centriole reduplication (PubMed:15885686, PubMed:23769972). Probably acts by ubiquitinating positive regulators of centriole reduplication (PubMed:23769972). Mediates monoubiquitination of 'Lys-119 |
| PDB |
3LRQ
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| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
| PF00643 |
zf-B_box |
90 → 132 |
B-box zinc finger |
Domain |
| PF00917 |
MATH |
283 → 404 |
MATH domain |
Domain |
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Sequence |
MDEQSVESIAEVFRCFICMEKLRDARLCPHCSKLCCFSCIRRWLTEQRAQCPHCRAPLQL
RELVNCRWAEEVTQQLDTLQLCSLTKHEENEKDKCENHHEKLSVFCWTCKKCICHQCALW
GGMHGGHTFKPLAEIYEQHVTKVNEEVAKLRRRLMELISLVQEVERNVEAVRNAKDERVR
EIRNAVEMMIARLDTQLKNKLITLMGQKTSLTQETELLESLLQEVEHQLRSCSKSELISK
SSEILMMFQQVHRKPMASFVTTPVPPDFTSELVPSYDSATFVLENFSTLRQRADPVYSPP
LQVSGLCWRLKVYPDGNGVVRGYYLSVFLELSAGLPETSKYEYRVEMVHQSCNDPTKNII
REFASDFEVGECWGYNRFFRLDLLANEGYLNPQNDTVILRFQVRSPTFFQKSRDQHWYIT
QLEAAQTSYIQQINNLKERLTIELSRTQKSRDLSPPDNHLSPQNDDALETRAKKSACSDM
LLEGGPTTASVREAKEDEEDEEKIQNEDYHHELSDGDLDLDLVYEDEVNQLDGSSSSASS
TATSNTEENDIDEETMSGENDVEYNNMELEEGELMEDAAAAGPAGSSHGYVGSSSRISRR
THLCSAATSSLLDIDPLILIHLLDLKDRSSIENLWGLQPRPPASLLQPTASYSRKDKDQR
KQQAMWRVPSDLKMLKRLKTQMAEVRCMKTDVKNTLSEIKSSSAASGDMQTSLFSADQAA
LAACGTENSGRLQDLGMELLAKSSVANCYIRNSTNKKSNSPKPARSSVAGSLSLRRAVDP
GENSRSKGDCQTLSEGSPGSSQSGSRHSSPRALIHGSIGDILPKTEDRQCKALDSDAVVV
AVFSGLPAVEKRRKMVTLGANAKGGHLEGLQMTDLENNSETGELQPVLPEGASAAPEEGM
SSDSDIECDTENEEQEEHTSVGGFHDSFMVMTQPPDEDTHSSFPDGEQIGPEDLSFNTDE
NSGR
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| Sequence length |
964 |
| 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.
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| Associated diseases
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| Causal |
| Disease name |
Disease term |
dbSNP ID |
References |
| Joubert syndrome |
Joubert syndrome 1 |
rs201108965, rs13297509, rs121918128, rs121918129, rs121918130, rs2109050324, rs118204052, rs118204053, rs121918197, rs121918198, rs121918199, rs121918200, rs121918204, rs387906243, rs145665129, rs267607020, rs137852832, rs62635288, rs137852834, rs267606719, rs1554557920, rs137853107, rs756686115, rs758948621, rs137853108, rs267607119, rs786200867, rs267607115, rs267607116, rs201893408, rs267607118, rs202149403, rs121912606, rs121912607, rs121912608, rs121434348, rs121434349, rs121434350, rs267606641, rs387906270, rs267606916, rs312262895, rs312262894, rs201391050, rs387907003, rs367543065, rs1584916464, rs2117674119, rs781815473, rs1584901211, rs1487082103, rs374349989, rs143149764, rs199469707, rs793888505, rs387907131, rs748510210, rs917404097, rs387907132, rs387907133, rs387907134, rs367543061, rs367543062, rs367543064, rs367543063, rs139675596, rs398122866, rs793888508, rs1596763347, rs1596988259, rs312262830, rs386833749, rs386833751, rs386833752, rs386833757, rs386833760, rs11230683, rs386834044, rs386834148, rs386834152, rs386834153, rs386834157, rs386834158, rs386834180, rs386834182, rs386834202, rs386834205, rs397514726, rs397514753, rs397514754, rs398124546, rs62640570, rs62640581, rs62640572, rs281865189, rs587777138, rs587777139, rs587777140, rs587777141, rs587777142, rs587777143, rs375113643, rs1554562278, rs587777145, rs587777146, rs537456518, rs587777156, rs377177061, rs587783013, rs587783014, rs587783016, rs606231259, rs375009168, rs200407856, rs727503853, rs730882231, rs730882217, rs730882221, rs778149316, rs386834043, rs786205568, rs777686211, rs794729226, rs794729195, rs534542684, rs757350052, rs796052128, rs770566897, rs796052129, rs797045104, rs764719093, rs797045437, rs797045224, rs797045223, rs797046039, rs760830696, rs797045918, rs775883520, rs863225149, rs762998472, rs781252161, rs754221308, rs200904521, rs863225178, rs773881370, rs370880399, rs863225173, rs863225171, rs863225172, rs779823379, rs763735590, rs386833759, rs863225176, rs863225168, rs863225179, rs201502401, rs863225174, rs374144275, rs863225154, rs770758833, rs863225153, rs141507441, rs863225155, rs1554064102, rs775263897, rs863225152, rs147416429, rs749523755, rs863225159, rs863225156, rs768675259, rs863225157, rs141153181, rs863225161, rs863225162, rs773362418, rs863225166, rs863225165, rs863225164, rs776886962, rs863225163, rs863225158, rs530569572, rs779680371, rs756856188, rs863225135, rs863225131, rs863225146, rs863225139, rs372659908, rs863225140, rs755407014, rs863225134, rs863225136, rs776093293, rs863225145, rs772989270, rs863225147, rs541041911, rs764412921, rs863225132, rs863225148, rs863225137, rs863225141, rs371637724, rs777668842, rs863225143, rs753085250, rs863225133, rs753874898, rs863225142, rs863225138, rs863225192, rs863225194, rs374703898, rs863225193, rs771203308, rs761382780, rs863225191, rs863225190, rs773954226, rs751309268, rs863225226, rs863225229, rs863225227, rs863225232, rs863225237, rs863225235, rs863225231, rs116647652, rs863225228, rs863225225, rs751517725, rs863225240, rs863225230, rs863225239, rs863225236, rs863225200, rs745688122, rs755459875, rs863225222, rs201010803, rs863225187, rs771454167, rs779262951, rs371525247, rs575767207, rs756302731, rs376493409, rs749439750, rs780624853, rs539400286, rs863225182, rs863225189, rs863225184, rs863225183, rs727503855, rs863225186, rs863225185, rs758550675, rs863225188, rs201097695, rs869312856, rs863225203, rs540255320, rs863225219, rs778533826, rs863225215, rs863225216, rs863225218, rs863225217, rs369488112, rs754279998, rs750436680, rs863225150, rs863225211, rs863225212, rs863225425, rs863225426, rs864309712, rs869025276, rs869025277, rs374574638, rs869025278, rs751962801, rs749435317, rs886038200, rs886038203, rs886038204, rs886038206, rs149170427, rs886039465, rs886039436, rs764109067, rs886039794, rs886039810, rs886039808, rs886039809, rs781848162, rs780225183, rs886042153, rs373604132, rs376974221, rs886044058, rs1057516038, rs1057517498, rs1057517528, rs1057517512, rs767384710, rs865870355, rs775043799, rs1057518822, rs1057519442, rs556808514, rs756789619, rs1057520085, rs755097302, rs1060499781, rs757208121, rs1064795687, rs777464278, rs985118235, rs751128300, rs142759730, rs770770257, rs200444162, rs1554084360, rs372770167, rs759799287, rs753432312, rs780265931, rs1114167448, rs1114167449, rs749421099, rs1131691889, rs369523378, rs1334483830, rs1402669959, rs1554614893, rs867342730, rs781670422, rs1555218898, rs1555616593, rs555421894, rs1554104276, rs1554102026, rs1554103267, rs1554852272, rs987735817, rs1555208870, rs750696284, rs1021950925, rs779450345, rs1456714047, rs1242532564, rs1555497891, rs1553773296, rs780910490, rs1554117456, rs766572502, rs1553827236, rs1189289587, rs372048855, rs776094913, rs1554604482, rs747025617, rs771866500, rs1392635342, rs375170572, rs1560002959, rs1380418532, rs756276537, rs1565822519, rs1563720581, rs200063331, rs753884599, rs776901858, rs1560184664, rs1559307932, rs1565088283, rs1561601398, rs1017750255, rs1563672487, rs144610914, rs539010725, rs777215595, rs752472169, rs972221242, rs1445957469, rs1482303814, rs561598805, rs1592833648, rs1465414886, rs1567800920, rs1577396376, rs751823180, rs775449384, rs746415983, rs587783017, rs778030031, rs751477523, rs751444506, rs187245292, rs1574587553, rs1584867379, rs1574582671, rs1586336362, rs1484807480, rs1305821156, rs1280425167, rs1583179845, rs1583276758, rs1586074742, rs1039146791, rs1592836704, rs1592639588, rs1592668925, rs1434632102, rs1594219498, rs1589150410, rs1259897171, rs1588830568, rs1592784618, rs1579888631, rs1580084520, rs1580686235, rs1221464366, rs1595050325, rs142375551, rs1593376626, rs1359437084, rs1355690902, rs1445681647, rs1786487832, rs1163874095, rs1336317768, rs756752153, rs1825358020, rs1375090095, rs761907569, rs770126103, rs1200131247, rs542206983, rs80034299, rs1320076769, rs752197734, rs901508284 |
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| Macrocephaly |
Macrocephaly |
rs786204854, rs764333096, rs1557739557 |
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| Nephroblastoma |
Nephroblastoma |
rs1553551874, rs1555913934, rs769116796 |
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| Retinitis pigmentosa |
Retinitis Pigmentosa |
rs267606794, rs200691042, rs397704718, rs202193201, rs267606793, rs2147483647, rs779886453, rs267606691, rs794728002, rs878853253, rs137853189, rs137853190, rs137853112, rs137853113, rs137853114, rs483352894, rs121908282, rs549625604, rs137852832, rs1587620953, rs104893680, rs587777805, rs386834261, rs104894474, rs104894475, rs28940315, rs387906272, rs202126574, rs267607017, rs80338903, rs397518008, rs111033367, rs121912599, rs80338902, rs111033364, rs111033272, rs121912600, rs587776538, rs111033334, rs80338904, rs121909398, rs119103286, rs587777809, rs121434241, rs121434242, rs121434243, rs121434236, rs121434238, rs121434239, rs121434240, rs267607034, rs267606874, rs267606876, rs267606875, rs1555468634, rs28940869, rs193919337, rs587776589, rs119475042, rs587776590, rs119475043, rs1600344451, rs1600337143, rs587776591, rs121908140, rs1085307049, rs111033258, rs121908142, rs111033267, rs137852959, rs121908175, rs121908178, rs121908179, rs138043021, rs397515359, rs397515360, rs730880273, rs119489105, rs371956016, rs1600169350, rs104894492, rs104894493, rs28937873, rs121912631, rs1567160967, rs886037612, rs137853005, rs62635656, rs62635655, rs62635654, rs28939720, rs137853137, rs62636291, rs62636275, rs281865175, rs104894082, rs869320726, rs869320727, rs104894083, rs869320728, rs121909073, rs121909074, rs121909075, rs121909076, rs1581734819, rs1581742970, rs104894672, rs104894178, rs201578674, rs61751386, rs267607077, rs121918532, rs1567360969, rs137852696, rs104893967, rs61750173, rs118203888, rs62638644, rs62638651, rs62642057, rs62638634, rs62638637, rs137852549, rs606231180, rs606231181, rs62638646, rs2147248070, rs137852550, rs137852284, rs104894925, rs28933687, rs104894926, rs2147081376, rs104894927, rs35689081, rs113624356, rs121917777, rs104893768, rs29001566, rs29001637, rs28933394, rs104893769, rs104893771, rs104893772, rs104893773, rs104893779, rs104893774, rs104893776, rs104893777, rs28933993, rs104893775, rs104893778, rs29001653, rs104893780, rs104893781, rs104893787, rs28933395, rs104893786, rs104893782, rs104893791, rs104893792, rs104893788, rs104893793, rs104893794, rs121918590, rs104893795, rs104893797, rs137853290, rs766278489, rs28933990, rs137853291, rs1598717056, rs121918579, rs121918580, rs730880317, rs121918581, rs1553801591, rs121918583, rs121918576, rs121918577, rs121918578, rs61752895, rs61752871, rs62637004, rs121917744, rs61752909, rs121917745, rs61755777, rs61755806, rs121918563, rs61755793, rs61755792, rs61755816, rs61755786, rs61755771, rs61755794, rs61755783, rs104894459, rs763191889, rs121912550, rs121912552, rs121909599, rs121909600, rs62625014, rs104893736, rs781781440, rs779514800, rs387906646, rs387906648, rs62653011, rs121909835, rs869320618, rs61751399, rs775098953, rs374390376, rs387906971, rs1911001854, rs147394623, rs786200928, rs1064792852, rs387907136, rs387907137, rs387907192, rs376586707, rs201188361, rs387907268, rs747425652, rs1573554264, rs387907314, rs199476194, rs62645748, rs397514574, rs397514575, rs374963432, rs397517964, rs369522997, rs111033379, rs111033264, rs202175091, rs111033265, rs111033418, rs397517973, rs397517974, rs397517976, rs397517977, rs397517978, rs151148854, rs111033518, rs397517983, rs397517984, rs111033385, rs111033417, rs397517988, rs397517989, rs397517990, rs397517994, rs111033273, rs397518003, rs397518010, rs397518011, rs397518013, rs397518014, rs397518018, rs375668376, rs397518021, rs397518022, rs397518023, rs111033386, rs111033268, rs397518029, rs111033280, rs397518036, rs397518039, rs397518041, rs397518043, rs397518046, rs41308425, rs397518048, rs73090721, rs111033263, rs146150511, rs387907367, rs386833717, rs386834012, rs386834019, rs386834024, rs386834152, rs398122391, rs879255568, rs398122960, rs398122961, rs398122962, rs398122963, rs398122964, rs398122525, rs398123298, rs398123336, rs1800728, rs398123538, rs398123575, rs398123576, rs372504780, rs398124544, rs398124618, rs398124619, rs149614625, rs587777086, rs431905521, rs61755781, rs61755785, rs61755787, rs61755796, rs61755800, rs61755805, rs61755807, rs61755810, rs61755817, rs62645935, rs281865373, rs61748433, rs62635002, rs62653030, rs281865304, rs62638633, rs62638645, rs62640589, rs61751276, rs61751281, rs61751282, rs62637006, rs62637007, rs61752873, rs281865285, rs61752883, rs61752884, rs281865286, rs61748550, rs61748558, rs61748559, rs61751385, rs61749409, rs61749414, rs61749418, rs61752401, rs61751263, rs62654397, rs61748526, rs61751395, rs61749433, rs61752407, rs62642570, rs61749451, rs61749459, rs61750065, rs61751398, rs62645946, rs61750137, rs61754044, rs61750140, rs61751402, rs281865377, rs61751388, rs61750152, rs62642574, rs61750155, rs61750567, rs61753023, rs61750571, rs61751406, rs61753029, rs61753030, rs61751389, rs61750639, rs61753043, rs61750653, rs61750654, rs61753046, rs63749055, rs62645958, rs62645944, rs62636511, rs281865168, rs281865171, rs281865166, rs62638179, rs281865188, rs62645754, rs62636264, rs62636266, rs62636267, rs62636273, rs62635659, rs62645752, rs137853923, rs730880283, rs587777272, rs587777273, rs202210819, rs587777376, rs587777377, rs483353056, rs587777599, rs527236085, rs527236089, rs527236091, rs527236088, rs527236090, rs527236097, rs527236098, rs148460146, rs527236101, rs527236100, rs527236102, rs527236062, rs527236055, rs527236056, rs527236109, rs527236108, rs527236111, rs527236112, rs527236092, rs527236059, rs527236058, rs527236077, rs527236072, rs527236075, rs527236073, rs527236065, rs527236074, rs527236071, rs527236068, rs527236069, rs527236078, rs527236066, rs527236076, rs527236070, rs527236067, rs527236082, rs527236060, rs527236061, rs372989281, rs527236079, rs527236116, rs527236087, rs201493928, rs527236105, rs527236083, rs527236134, rs527236096, rs527236113, rs527236114, rs527236086, rs527236094, rs144738703, rs527236095, rs199867882, rs527236099, rs114342808, rs527236139, rs527236137, rs527236127, rs527236124, rs527236126, rs527236125, rs527236121, rs527236123, rs55958016, rs527236120, rs527236118, rs587783013, rs727505116, rs727503731, rs146733615, rs727504867, rs727503715, rs727505343, rs727503723, rs727503725, rs730880349, rs727505337, rs727503736, rs727504893, rs727504075, rs730882149, rs730882261, rs148412181, rs746523071, rs786204428, rs750228923, rs749909863, rs786205444, rs786205445, rs786205447, rs786205450, rs767745816, rs2723341, rs786205493, rs368098126, rs761628767, rs786205533, rs786205534, rs786205535, rs786205545, rs786205564, rs763295314, rs797044561, rs793888523, rs786205610, rs786205626, rs786205644, rs786205652, rs750542962, rs863223342, rs863223341, rs863223338, rs863223344, rs863223339, rs863223340, rs779007169, rs863223343, rs786205856, rs786205857, rs786205858, rs794726979, rs372354156, rs794727120, rs794727139, rs794727197, rs794727281, rs754012367, rs373441420, rs761238771, rs775557680, rs794727579, rs794727631, rs797044735, rs201657446, rs372347027, rs148660051, rs779791079, rs753330544, rs794727903, rs875989821, rs781192528, rs386833744, 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rs2067198376, rs2067203546, rs1601943325, rs2067498051, rs2067562201, rs2067845149, rs2067985165, rs2067987832, rs1924521431, rs1924897691, rs1924907742, rs1925391988, rs2037140260, rs2031451980, rs1358947010, rs1470798497, rs1601920131, rs34713174, rs1571948114, rs774677256, rs1581186849, rs1601920532, rs1578280614, rs1601951595, rs1585959862, rs748984657, rs1585963931, rs1572879569, rs201070350, rs1571805164, rs768445391, rs1044562973, rs1572829010, rs768837125, rs1582249186, rs1585569717, rs151141842, rs1600356790, rs778731851, rs369184026, rs1665487563, rs1657798642, rs771260365, rs750321557, rs767328784, rs1662880750, rs1424639717, rs1664846292, rs1667471296, rs769609970, rs2032072206, rs201529124, rs2034899784, rs1364987785, rs1191816747, rs780007963, rs1487540503, rs188492864, rs1688308445, rs1476585944, rs769632183, rs748396645, rs772325487, rs769445913, rs1673040470, rs2063883437, rs2084776162, rs2084776365, rs777851867, rs772867912, rs1476546899, rs145605739, rs759537984, rs141252097, rs754916169, rs748972748, rs1166245419, rs771640639, rs1768367412, rs764362221, rs1050742628, rs1299355731, rs184722374, rs1477705832, rs1561965266, rs761760327, rs1245304444, rs1431710414, rs1767601438, rs1764940309, rs1389794536, rs989589885, rs1769936722, rs1765726534, rs780433094, rs1231321479, rs765035454, rs759505780, rs774264204, rs1924904597, rs776014770, rs1662191792, rs1228475082, rs1772614934, rs1193854376, rs748946491, rs767630412, rs746128841, rs748977292, rs1767600988, rs1769267226, rs373232101, rs1167867158, rs1660515780, rs1664290387, rs866822473, rs963201816, rs1664325377, rs1664671663, rs1558138741, rs1656646221, rs1485393201, rs1657976232, rs1657992342, rs1657997730, rs762070900, rs1660922779, rs1661140054, rs1661687852, rs1662771528, rs1558121260, rs1665132445, rs755032078, rs2032459600, rs769198746, rs2034852728, rs2036054600, rs757154662, rs766370703, rs2038566220, rs1195779037, rs2039690812, rs1362964563, rs1242866408, rs775776288, rs1278226911, rs1238123416, rs1689010156, rs200711686, rs1667504255, rs753619551, rs1558490060, rs866543181, rs770399625, rs1472199114, rs764109533, rs1415160298, rs2084785435, rs1402468701, rs984572250, rs768694789, rs1237954156, rs1737429976, rs373037737, rs759563967, rs751589956, rs774204108, rs1409801782, rs1768346880, rs772549804, rs1431427428, rs1770904723, rs909730457, rs1245121527, rs1767699695, rs1295206142, rs746499646, rs1766006937, rs779372264, rs749460193, rs371886218, rs1488237523, rs1806079331, rs1489149705, rs955766374, rs1210263161, rs2073701307, rs2073926924, rs1342475527, rs2067114709, rs2067115815, rs866524368, rs1186795749, rs2067127718, rs1569235565, rs2067136586, rs2067140471, rs2067144007, rs2067146007, rs1555961509, rs2067157388, rs2067160273, rs2067161139, rs2067163605, rs2067164096, rs2067169934, rs2067170858, rs2067172824, rs2067174697, rs1233849070, rs2067176160, rs2067176379, rs1373833359, rs1601922510, rs2067182354, rs2067182636, rs2067182990, rs2067183162, rs2067184023, rs2067185564, rs2067186632, rs2067186762, rs2067187127, rs2067187550, rs2067187618, rs2067188031, rs2067188111, rs2067190364, rs2067190922, rs2067191154, rs2067191335, rs2067191635, rs1305342570, rs2067193056, rs2067194648, rs1569237670, rs762837543, rs760287363, rs1235430504, rs1371160062, rs2031604509, rs1558244152, rs2034951427, rs912980910, rs1662599697, rs1005130980, rs1334444660, rs898144119, rs1383907349, rs1753232409, rs1769469813, rs1961362638, rs2073798309, rs2073961843, rs1836931186, rs1661659605, rs1645824187, rs1343680080, rs1660517678, rs765676754, rs1366609497, rs1656942613, rs1347261858, rs1685567937, rs1667513233, rs1805984836, rs2073842959, rs2067140574, rs2067148119, rs2067166789, rs2067179633, rs2067200470, rs1924900389, rs2034938852 |
|
|
| Unknown |
| Disease name |
Disease term |
dbSNP ID |
References |
| Astigmatism |
Astigmatism |
|
|
| Congestive heart failure |
Congestive heart failure |
rs2301610, rs3833910, rs12301951, rs201674674, rs186741807, rs150140412, rs786205727, rs757840030, rs552050895, rs759465783, rs201978086, rs572757800, rs1572143354, rs749160569 |
|
| Dolichocephaly |
Long narrow head |
|
|
| Dwarfism |
Dwarfism |
|
|
| Dysarthria |
Dysarthria |
|
|
| Fibrocartilaginous dysplasia of bone |
Fibrocartilaginous Dysplasia of Bone |
|
14757854 |
| Fibrocystic dysplasia of bone |
Fibrocystic Dysplasia of Bone |
|
14757854 |
| Fibrous dysplasia |
Osteitis Fibrosa Disseminata |
|
14757854 |
| Frontal bossing |
Frontal bossing |
|
|
| Hypodontia |
Hypodontia |
|
|
| Microglossia |
Microglossia |
|
|
| Mulibrey nanism |
Mulibrey Nanism |
|
19347900, 15885686, 27604308, 10888877, 17100991, 23385855, 21865362, 12754710, 15108285, 14757854, 17551331 |
| Nevus |
Nevus |
|
|
| Pericardial constriction with growth failure |
Pericardial constriction with growth failure |
|
19347900 |
| Strabismus |
Strabismus |
|
|
|
|
|
