TUBB4A (tubulin beta 4A class IVa)

Gene

• Entrez ID: 10382
• Gene name: Tubulin beta 4A class IVa
• Gene symbol: TUBB4A
• Synonyms (NCBI Gene): DYT4, TUBB4, beta-5
• Disease Acronyms (UniProt): DYT4
• Chromosome: 19
• Chromosome location: 19p13.3
• Summary: This gene encodes a member of the beta tubulin family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. Mutations in this gene cause hypomyelinating leukodystrophy-6 and au

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs369467354	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs483352809	C>T	Pathogenic	Coding sequence variant, missense variant
rs587776983	G>A,C,T	Pathogenic	5 prime UTR variant, coding sequence variant, synonymous variant, missense variant
rs587777074	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs587777428	C>T	Pathogenic	Coding sequence variant, missense variant
rs587777429	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs587777467	C>G,T	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs587777468	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs748787734	G>A,C	Likely-pathogenic	Synonymous variant, coding sequence variant, missense variant
rs756762431	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs761635539	G>A	Pathogenic	Missense variant, coding sequence variant
rs767399782	C>A,T	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs797045074	C>G,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs886039470	C>T	Pathogenic	Missense variant, coding sequence variant
rs886041007	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs886041008	G>T	Pathogenic	Missense variant, coding sequence variant
rs886041009	C>A	Pathogenic	Missense variant, coding sequence variant
rs886041010	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs886041011	G>T	Pathogenic	Missense variant, coding sequence variant
rs886041012	C>A	Pathogenic	Missense variant, coding sequence variant
rs886041013	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs886041014	A>C	Pathogenic	Missense variant, coding sequence variant
rs886041015	C>A,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs886041016	C>T	Pathogenic	Missense variant, coding sequence variant
rs886041017	G>T	Pathogenic	Missense variant, coding sequence variant
rs886041018	A>G,T	Pathogenic	Missense variant, coding sequence variant
rs886041019	T>C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs886041020	A>G	Pathogenic	Missense variant, coding sequence variant
rs886041021	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs886041022	A>C,G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1057517986	C>G	Pathogenic	Coding sequence variant, missense variant
rs1131691696	C>T	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs1599405952	G>T	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022751	hsa-miR-124-3p	Microarray	18668037
MIRT036536	hsa-miR-1226-3p	CLASH	23622248
MIRT513393	hsa-miR-3974	PAR-CLIP	23446348
MIRT513392	hsa-miR-488-5p	PAR-CLIP	23446348
MIRT513390	hsa-miR-150-5p	PAR-CLIP	23446348
MIRT513391	hsa-miR-532-3p	PAR-CLIP	23446348
MIRT513389	hsa-miR-2116-3p	PAR-CLIP	23446348
MIRT513388	hsa-miR-6845-3p	PAR-CLIP	23446348
MIRT513387	hsa-miR-1909-3p	PAR-CLIP	23446348
MIRT513386	hsa-miR-6722-3p	PAR-CLIP	23446348
MIRT513385	hsa-miR-1207-5p	PAR-CLIP	23446348
MIRT513384	hsa-miR-4763-3p	PAR-CLIP	23446348
MIRT513383	hsa-miR-4713-5p	PAR-CLIP	23446348
MIRT513381	hsa-miR-6873-3p	PAR-CLIP	23446348
MIRT513382	hsa-miR-4768-5p	PAR-CLIP	23446348
MIRT513380	hsa-miR-6833-3p	PAR-CLIP	23446348
MIRT513379	hsa-miR-6809-3p	PAR-CLIP	23446348
MIRT513393	hsa-miR-3974	PAR-CLIP	23446348
MIRT513392	hsa-miR-488-5p	PAR-CLIP	23446348
MIRT513390	hsa-miR-150-5p	PAR-CLIP	23446348
MIRT513391	hsa-miR-532-3p	PAR-CLIP	23446348
MIRT513389	hsa-miR-2116-3p	PAR-CLIP	23446348
MIRT513388	hsa-miR-6845-3p	PAR-CLIP	23446348
MIRT513387	hsa-miR-1909-3p	PAR-CLIP	23446348
MIRT513386	hsa-miR-6722-3p	PAR-CLIP	23446348
MIRT513385	hsa-miR-1207-5p	PAR-CLIP	23446348
MIRT513384	hsa-miR-4763-3p	PAR-CLIP	23446348
MIRT513383	hsa-miR-4713-5p	PAR-CLIP	23446348
MIRT513381	hsa-miR-6873-3p	PAR-CLIP	23446348
MIRT513382	hsa-miR-4768-5p	PAR-CLIP	23446348
MIRT513380	hsa-miR-6833-3p	PAR-CLIP	23446348
MIRT513379	hsa-miR-6809-3p	PAR-CLIP	23446348

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000086	Process	G2/M transition of mitotic cell cycle	TAS
GO:0000226	Process	Microtubule cytoskeleton organization	IBA	21873635
GO:0000278	Process	Mitotic cell cycle	IBA	21873635
GO:0003924	Function	GTPase activity	IEA
GO:0005200	Function	Structural constituent of cytoskeleton	IBA	21873635
GO:0005509	Function	Calcium ion binding	IMP	10211825
GO:0005515	Function	Protein binding	IPI	20195357, 24275654, 31046837
GO:0005525	Function	GTP binding	IBA	21873635
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005829	Component	Cytosol	TAS
GO:0005874	Component	Microtubule	IBA	21873635
GO:0005874	Component	Microtubule	IDA	21525035
GO:0005930	Component	Axoneme	IDA	12475942
GO:0010389	Process	Regulation of G2/M transition of mitotic cell cycle	TAS
GO:0031115	Process	Negative regulation of microtubule polymerization	IMP	10211825
GO:0033269	Component	Internode region of axon	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043209	Component	Myelin sheath	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0097711	Process	Ciliary basal body-plasma membrane docking	TAS

Other IDs

• MIM: 602662
• HGNC: 20774
• e!Ensembl: ENSG00000104833

Protein

• UniProt ID: P04350
• Protein name: Tubulin beta-4A chain (Tubulin 5 beta) (Tubulin beta-4 chain)
• Protein function: Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule en
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00091	Tubulin	3 → 212	Tubulin/FtsZ family, GTPase domain	Domain
  PF03953	Tubulin_C	261 → 383	Tubulin C-terminal domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Major isotype in brain, where it represents 46% of all beta-tubulins. In the brain, highest expression levels in the cerebellum, followed by putamen and white matter. Moderate levels in testis. Very low levels, if any, in other tissues
• Sequence:

  MREIVHLQAGQCGNQIGAKFWEVISDEHGIDPTGTYHGDSDLQLERINVYYNEATGGNYV
  PRAVLVDLEPGTMDSVRSGPFGQIFRPDNFVFGQSGAGNNWAKGHYTEGAELVDAVLDVV
  RKEAESCDCLQGFQLTHSLGGGTGSGMGTLLISKIREEFPDRIMNTFSVVPSPKVSDTVV
  EPYNATLSVHQLVENTDETYCIDNEALYDICFRTLKLTTPTYGDLNHLVSATMSGVTTCL
  RFPGQLNADLRKLAVNMVPFPRLHFFMPGFAPLTSRGSQQYRALTVPELTQQMFDAKNMM
  AACDPRHGRYLTVAAVFRGRMSMKEVDEQMLSVQSKNSSYFVEWIPNNVKTAVCDIPPRG
  LKMAATFIGNSTAIQELFKRISEQFTAMFRRKAFLHWYTGEGMDEMEFTEAESNMNDLVS
  EYQQYQDATAEEGEFEEEAEEEVA

• Sequence length: 444

Pathways

KEGG:

Phagosome
Gap junction
Motor proteins
Alzheimer disease
Parkinson disease
Amyotrophic lateral sclerosis
Huntington disease
Prion disease
Pathways of neurodegeneration - multiple diseases
Pathogenic Escherichia coli infection
Salmonella infection

Reactome:

Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane
MHC class II antigen presentation
Separation of Sister Chromatids
Resolution of Sister Chromatid Cohesion
Regulation of PLK1 Activity at G2/M Transition
HSP90 chaperone cycle for steroid hormone receptors (SHR)
Loss of Nlp from mitotic centrosomes
Recruitment of mitotic centrosome proteins and complexes
Loss of proteins required for interphase microtubule organization from the centrosome
Recruitment of NuMA to mitotic centrosomes
Recycling pathway of L1
Hedgehog 'off' state
Cilium Assembly
Anchoring of the basal body to the plasma membrane
Intraflagellar transport
RHO GTPases activate IQGAPs
RHO GTPases Activate Formins
COPI-mediated anterograde transport
COPI-dependent Golgi-to-ER retrograde traffic
COPI-independent Golgi-to-ER retrograde traffic
Mitotic Prometaphase
The role of GTSE1 in G2/M progression after G2 checkpoint
AURKA Activation by TPX2
Carboxyterminal post-translational modifications of tubulin
HCMV Early Events
Aggrephagy
EML4 and NUDC in mitotic spindle formation
Sealing of the nuclear envelope (NE) by ESCRT-III
Kinesins

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Cerebral palsy	Cerebral Palsy	rs121918149, rs75184679, rs730880264, rs587777428, rs797045067, rs767399782, rs564185858, rs886039513
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074	24785942
Developmental regression	Developmental regression	rs1224421127	24785942
Dystonia	Dystonia Musculorum Deformans, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder), Primary dystonia, DYT4 type	rs1586456293, rs1586456350, rs1586456278, rs267607112, rs137852968, rs80358233, rs121434410, rs730880307, rs104894433, rs104894437, rs2140127822, rs104894438, rs2140074226, rs104894439, rs104894440, rs2140073990, rs104894441, rs104894444, rs80356532, rs80356533, rs80356535, rs80356536, rs80356537, rs267606670, rs104893665, rs121917747, rs121909739, rs80359818, rs387907176, rs387907177, rs387907281, rs387907282, rs398122887, rs387907312, rs587776922, rs1565132917, rs587776923, rs1277790116, rs398122924, rs398122925, rs398122926, rs398122927, rs398122928, rs587776983, rs397515577, rs587777428, rs587777771, rs397515382, rs606231443, rs606231442, rs606231441, rs549006436, rs606231439, rs606231437, rs606231435, rs606231434, rs557052809, rs606231432, rs542652468, rs786205675, rs775863165, rs767517186, rs139260335, rs796053263, rs796053254, rs767399782, rs864309572, rs869320661, rs779204655, rs879253875, rs886039379, rs1555865401, rs587777468, rs886041396, rs1057518117, rs782175860, rs1057518953, rs113371321, rs1057518942, rs1057519278, rs1057519279, rs1057519280, rs1057519281, rs1057519282, rs1057519283, rs1057519284, rs988395114, rs1060500993, rs1064795234, rs1064797245, rs1064797344, rs1131691345, rs1131691307, rs749414480, rs1555358507, rs1555727493, rs1555362835, rs1555859571, rs763183959, rs1555859157, rs1555731819, rs879255368, rs1555731976, rs1554599616, rs1554599983, rs1554599712, rs1555360050, rs760768475, rs1566687487, rs1568379151, rs1563644456, rs1563646198, rs1563644810, rs1568853466, rs1573882268, rs1252185897, rs1586456404, rs1590612392, rs1590658782, rs1599706613, rs1599715341, rs1599719130, rs1590168246, rs1590169710, rs1599689373, rs1599712456, rs1599712523, rs1599719534, rs1586457084, rs1478393931, rs748888652, rs1599679995, rs1599680351, rs1459799356, rs1599687853, rs1599706511, rs1599725621, rs1586459408, rs1596050386, rs1599676503, rs1566687244, rs1586457060, rs1599665134, rs1599668553, rs1670619549, rs1802674870, rs1802756440, rs2075090666, rs1969024891, rs1802672249, rs2039866854	24526230, 25497598, 23424103, 25655951, 23582646
Leukodystrophy	Leukodystrophy, Leukodystrophy, Hypomyelinating, 6	rs74315475, rs72466451, rs267608671, rs181087667, rs267608682, rs267608674, rs587778271, rs148932047, rs886037931, rs368905417, rs768180196, rs1558211070, rs1558209947, rs1558210191, rs1280845604, rs1382083552, rs1576101665, rs1576080546, rs1576074651, rs1367958450, rs932183417	25356970, 25497598, 25085639, 24850488, 23424103, 26643067, 25545912, 28973395, 23582646, 24974158, 26633545, 29451896, 25772097, 24526230, 25168210, 24357685, 24742798, 24785942, 25655951, 24706558
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896	24785942
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299, rs61750185, rs672601379, rs727504060, rs786204830, rs794727804, rs199946797, rs863224127, rs863224131, rs863224134, rs863224906, rs372054380, rs886037828, rs764791523, rs145639028, rs1057519312, rs1064794257, rs1064794656, rs1064797303, rs774265764, rs760337383, rs1553784985, rs72653786, rs1555229948, rs1555119216, rs761743852, rs1553785338, rs1020764190, rs782581701, rs1560408865, rs761460379, rs773022324, rs782740998, rs1560327427, rs80356528, rs1734162973, rs1716524583, rs1057368575

Unknown
Disease term	Disease name	Evidence	References	Source
Specific learning disorder	Specific learning disability			ClinVar
Cleft Lip With Or Without Cleft Palate	Cleft Lip With Or Without Cleft Palate			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Anodontia	Associate	23582646, 28655586, 28973395, 35275727, 37003180
Atrophy	Associate	34514881
Basal Ganglia Diseases	Associate	24785942
Brain Diseases	Associate	28973395
Cerebellar Diseases	Associate	25085639
Chorea	Associate	24598712
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules	Associate	28973395
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	34514881
Demyelinating Diseases	Associate	24742798, 24785942, 25085639, 28973395, 29451896, 34514881, 40179460
Developmental Disabilities	Associate	34514881
Dysphonia	Associate	23595291
Dystonia	Associate	23582646, 23595291, 24598712, 28655586, 32943487, 35275727
Dystonia musculorum deformans 4	Associate	24785942
Dystonic Disorders	Associate	24598712, 24742798, 28655586, 28973395
Heredodegenerative Disorders Nervous System	Associate	24742798
Hypoxia Brain	Associate	31940282
Immunoglobulin G4 Related Disease	Associate	34997144
Intellectual Disability	Associate	24598712
Laryngitis	Associate	32943487
Leukodystrophy Hypomyelinating 6	Associate	23582646, 24598712, 24742798, 24785942, 25085639, 28655586, 28973395, 35275727, 37003180
Leukodystrophy Metachromatic	Associate	32573057, 37003180, 37461315
Leukoencephalopathies	Associate	24598712, 34514881, 35803560
Livedoid Vasculopathy	Associate	40179460
Melanoma Cutaneous Malignant	Associate	36173063
Mental Disorders	Associate	24598712
Movement Disorders	Associate	37461315
Neoplasm Metastasis	Associate	35589707
Neoplasms	Associate	15986332, 35589707
Nervous System Diseases	Associate	37461315
Neurologic Manifestations	Associate	28973395, 34514881
Pelizaeus Merzbacher like disease autosomal recessive 2	Associate	24742798, 28655586, 33597727
Personality Disorders	Stimulate	35589707
Prostatic Neoplasms	Stimulate	35589707
Psychomotor Disorders	Associate	40179460
Quadriplegia	Associate	28973395
Squamous Cell Carcinoma of Head and Neck	Stimulate	37161060
Status Asthmaticus	Associate	29843677
Thakker Donnai syndrome	Associate	24598712
Torticollis	Associate	28655586, 32943487
Whispering dysphonia hereditary	Associate	23595291, 24598712, 28655586