TUBB2B (tubulin beta 2B class IIb)

Gene

• Entrez ID: 347733
• Gene name: Tubulin beta 2B class IIb
• Gene symbol: TUBB2B
• Synonyms (NCBI Gene): CDCBM7, PMGYSA, bA506K6.1
• Disease Acronyms (UniProt): CDCBM7
• Chromosome: 6
• Chromosome location: 6p25.2
• Summary: The protein encoded by this gene is a beta isoform of tubulin, which binds GTP and is a major component of microtubules. This gene is highly similar to TUBB2A and TUBB2C. Defects in this gene are a cause of asymmetric polymicrogyria. [provided by RefSeq,

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs137853194	A>G	Pathogenic	Missense variant, coding sequence variant
rs137853195	A>G	Pathogenic	Missense variant, coding sequence variant
rs137853196	A>G	Pathogenic	Missense variant, coding sequence variant
rs201922441	C>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs397514567	C>T	Pathogenic	Missense variant, coding sequence variant
rs397514568	T>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs397514569	A>G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs398122369	C>T	Pathogenic	Missense variant, coding sequence variant
rs587784498	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs587784502	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs777598117	G>A	Benign, likely-pathogenic	Missense variant, coding sequence variant
rs797046075	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs878853284	C>A	Pathogenic	Coding sequence variant, missense variant
rs1057517932	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1057520391	G>A	Pathogenic	Coding sequence variant, missense variant
rs1057520787	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1064794314	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1135401758	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1554126886	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1554126925	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1554126964	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1561826759	A>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1581525728	G>A	Likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022690	hsa-miR-124-3p	Microarray	18668037
MIRT023769	hsa-miR-1-3p	Microarray	18668037
MIRT048981	hsa-miR-92a-3p	CLASH	23622248
MIRT045115	hsa-miR-186-5p	CLASH	23622248
MIRT040215	hsa-miR-615-3p	CLASH	23622248
MIRT037235	hsa-miR-877-5p	CLASH	23622248
MIRT2360056	hsa-miR-4662a-5p	CLIP-seq
MIRT2360057	hsa-miR-4709-5p	CLIP-seq
MIRT2360058	hsa-miR-885-5p	CLIP-seq
MIRT2462666	hsa-miR-2964a-5p	CLIP-seq
MIRT2462667	hsa-miR-3613-3p	CLIP-seq
MIRT2462668	hsa-miR-520d-5p	CLIP-seq
MIRT2462669	hsa-miR-524-5p	CLIP-seq
MIRT2653274	hsa-miR-1228	CLIP-seq
MIRT2653275	hsa-miR-154	CLIP-seq
MIRT2653276	hsa-miR-29a	CLIP-seq
MIRT2653277	hsa-miR-29b	CLIP-seq
MIRT2653278	hsa-miR-29c	CLIP-seq
MIRT2653279	hsa-miR-3124-3p	CLIP-seq
MIRT2653280	hsa-miR-3663-3p	CLIP-seq
MIRT2653281	hsa-miR-3667-3p	CLIP-seq
MIRT2653282	hsa-miR-3943	CLIP-seq
MIRT2653283	hsa-miR-411	CLIP-seq
MIRT2653284	hsa-miR-4436b-5p	CLIP-seq
MIRT2653285	hsa-miR-4449	CLIP-seq
MIRT2653286	hsa-miR-4532	CLIP-seq
MIRT2653287	hsa-miR-4709-3p	CLIP-seq
MIRT2360057	hsa-miR-4709-5p	CLIP-seq
MIRT2653288	hsa-miR-4738-5p	CLIP-seq
MIRT2653289	hsa-miR-4755-3p	CLIP-seq
MIRT2653290	hsa-miR-548a-5p	CLIP-seq
MIRT2653291	hsa-miR-548ab	CLIP-seq
MIRT2653292	hsa-miR-548ak	CLIP-seq
MIRT2653293	hsa-miR-548b-5p	CLIP-seq
MIRT2653294	hsa-miR-548c-5p	CLIP-seq
MIRT2653295	hsa-miR-548d-5p	CLIP-seq
MIRT2653296	hsa-miR-548h	CLIP-seq
MIRT2653297	hsa-miR-548i	CLIP-seq
MIRT2653298	hsa-miR-548j	CLIP-seq
MIRT2653299	hsa-miR-548k	CLIP-seq
MIRT2653300	hsa-miR-548l	CLIP-seq
MIRT2653301	hsa-miR-548w	CLIP-seq
MIRT2653302	hsa-miR-548y	CLIP-seq
MIRT2653303	hsa-miR-559	CLIP-seq
MIRT2653304	hsa-miR-591	CLIP-seq
MIRT2653305	hsa-miR-671-5p	CLIP-seq
MIRT2653274	hsa-miR-1228	CLIP-seq
MIRT2694491	hsa-miR-1238	CLIP-seq
MIRT2653275	hsa-miR-154	CLIP-seq
MIRT2653276	hsa-miR-29a	CLIP-seq
MIRT2653277	hsa-miR-29b	CLIP-seq
MIRT2653278	hsa-miR-29c	CLIP-seq
MIRT2653279	hsa-miR-3124-3p	CLIP-seq
MIRT2653280	hsa-miR-3663-3p	CLIP-seq
MIRT2653281	hsa-miR-3667-3p	CLIP-seq
MIRT2653282	hsa-miR-3943	CLIP-seq
MIRT2653283	hsa-miR-411	CLIP-seq
MIRT2694492	hsa-miR-4315	CLIP-seq
MIRT2653284	hsa-miR-4436b-5p	CLIP-seq
MIRT2653285	hsa-miR-4449	CLIP-seq
MIRT2653286	hsa-miR-4532	CLIP-seq
MIRT2694493	hsa-miR-4640-3p	CLIP-seq
MIRT2694494	hsa-miR-4691-5p	CLIP-seq
MIRT2653287	hsa-miR-4709-3p	CLIP-seq
MIRT2360057	hsa-miR-4709-5p	CLIP-seq
MIRT2653288	hsa-miR-4738-5p	CLIP-seq
MIRT2653289	hsa-miR-4755-3p	CLIP-seq
MIRT2694495	hsa-miR-4790-5p	CLIP-seq
MIRT2653290	hsa-miR-548a-5p	CLIP-seq
MIRT2653291	hsa-miR-548ab	CLIP-seq
MIRT2653292	hsa-miR-548ak	CLIP-seq
MIRT2653293	hsa-miR-548b-5p	CLIP-seq
MIRT2653294	hsa-miR-548c-5p	CLIP-seq
MIRT2653295	hsa-miR-548d-5p	CLIP-seq
MIRT2653296	hsa-miR-548h	CLIP-seq
MIRT2653297	hsa-miR-548i	CLIP-seq
MIRT2653298	hsa-miR-548j	CLIP-seq
MIRT2653299	hsa-miR-548k	CLIP-seq
MIRT2653300	hsa-miR-548l	CLIP-seq
MIRT2653301	hsa-miR-548w	CLIP-seq
MIRT2653302	hsa-miR-548y	CLIP-seq
MIRT2653303	hsa-miR-559	CLIP-seq
MIRT2653304	hsa-miR-591	CLIP-seq
MIRT2653305	hsa-miR-671-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000226	Process	Microtubule cytoskeleton organization	IBA	21873635
GO:0000278	Process	Mitotic cell cycle	IBA	21873635
GO:0001764	Process	Neuron migration	IBA	21873635
GO:0001764	Process	Neuron migration	IMP	19465910
GO:0003924	Function	GTPase activity	IEA
GO:0005200	Function	Structural constituent of cytoskeleton	IBA	21873635
GO:0005515	Function	Protein binding	IPI	21078624
GO:0005525	Function	GTP binding	IBA	21873635
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005874	Component	Microtubule	IBA	21873635
GO:0005874	Component	Microtubule	IDA	21525035
GO:0007017	Process	Microtubule-based process	IMP	26732629
GO:0015630	Component	Microtubule cytoskeleton	IDA	23001566, 28013290
GO:0046982	Function	Protein heterodimerization activity	IDA	23001566, 26732629, 28013290
GO:0050804	Process	Modulation of chemical synaptic transmission	IEA
GO:0098685	Component	Schaffer collateral - CA1 synapse	IEA
GO:1902669	Process	Positive regulation of axon guidance	IMP	23001566
GO:1990403	Process	Embryonic brain development	IEA

Other IDs

• MIM: 612850
• HGNC: 30829
• e!Ensembl: ENSG00000137285

Protein

• UniProt ID: Q9BVA1
• Protein name: Tubulin beta-2B 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 (PubMed:23001566, PubMed:26732629, PubMed:28013290). Microtubules grow by the
• PDB: 6E7C, 7ZCW
• 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: High expression in brain. {ECO:0000269|PubMed:20191564}.
• Sequence:

  MREIVHIQAGQCGNQIGAKFWEVISDEHGIDPTGSYHGDSDLQLERINVYYNEATGNKYV
  PRAILVDLEPGTMDSVRSGPFGQIFRPDNFVFGQSGAGNNWAKGHYTEGAELVDSVLDVV
  RKESESCDCLQGFQLTHSLGGGTGSGMGTLLISKIREEYPDRIMNTFSVMPSPKVSDTVV
  EPYNATLSVHQLVENTDETYCIDNEALYDICFRTLKLTTPTYGDLNHLVSATMSGVTTCL
  RFPGQLNADLRKLAVNMVPFPRLHFFMPGFAPLTSRGSQQYRALTVPELTQQMFDSKNMM
  AACDPRHGRYLTVAAIFRGRMSMKEVDEQMLNVQNKNSSYFVEWIPNNVKTAVCDIPPRG
  LKMSATFIGNSTAIQELFKRISEQFTAMFRRKAFLHWYTGEGMDEMEFTEAESNMNDLVS
  EYQQYQDATADEQGEFEEEEGEDEA

• Sequence length: 445

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
HSP90 chaperone cycle for steroid hormone receptors (SHR)
Recruitment of NuMA to mitotic centrosomes
Recycling pathway of L1
Hedgehog 'off' state
Cilium Assembly
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
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
Agenesis of corpus callosum	Agenesis of corpus callosum	rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder	rs786205019
Carcinoma	Carcinoma, Carcinoma, Spindle-Cell, Undifferentiated carcinoma	rs121912654, rs555607708, rs786202962, rs1564055259	12376462
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
Cerebral palsy	Cerebral Palsy	rs121918149, rs75184679, rs730880264, rs587777428, rs797045067, rs767399782, rs564185858, rs886039513
Congenital fibrosis of extraocular muscles	Congenital Fibrosis of the Extraocular Muscles, Congenital fibrosis of extraocular muscles	rs121912585, rs121912586, rs121912587, rs121912588, rs121912589, rs121912590, rs267603451	23001566
Cortical dysplasia with other brain malformations	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7	rs137853194, rs137853195, rs137853196, rs267607164, rs267607165, rs878853256, rs878853257, rs878853258, rs397514567, rs397514569, rs398123045, rs398123046, rs398123047, rs587777033, rs587777034, rs587777035, rs398122369, rs886037663, rs587777355, rs587777356, rs587777357, rs587777570, rs587784498, rs587784502, rs587784505, rs797046074, rs864321717, rs878853162, rs878853279, rs878853284, rs886039447, rs747480526, rs886041459, rs1057518249, rs1057517908, rs1057521924, rs1064795249, rs1064795334, rs1131691895, rs1135401758, rs1554042050, rs1554126886, rs1554126925, rs1554122959, rs1553463778, rs1561273261, rs760139097, rs1413537928, rs778294237, rs1581525728, rs1472207337, rs1599166793, rs1599137041, rs1599155642, rs1580059038, rs1581496351, rs1581526962, rs1581525683, rs1581668624, rs201922441	22333901, 23001566, 26732629, 19465910
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
Dysequilibrium syndrome	Dysequilibrium syndrome	rs1952385477	28013290
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
Polymicrogyria	Polymicrogyria, Unilateral polymicrogyria, Polymicrogyria due to TUBB2B mutation	rs1558010146, rs1558003446, rs1575508937
Schizencephaly	Schizencephaly	rs2133969658, rs1564751655, rs1411887961, rs755549724, rs387906867
Tubulinopathy-associated dysgyria	Tubulinopathy-associated dysgyria	rs137853044, rs587784491, rs1942166930

Unknown
Disease term	Disease name	Evidence	References	Source
Specific learning disorder	Specific learning disability			ClinVar
Cortical Dysplasia	complex cortical dysplasia with other brain malformations 7, complex cortical dysplasia with other brain malformations			GenCC
Tubulinopathy-Associated Dysgyria	tubulinopathy-associated dysgyria			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Agenesis of Cerebellar Vermis	Associate	34592644
Agenesis of Corpus Callosum	Associate	22591407, 25059107, 30704335
Basal Ganglia Diseases	Associate	22591407, 34592644, 40179460
beta Thalassemia	Associate	30704335
Carcinoma Renal Cell	Associate	32883362
Central Nervous System Vascular Malformations	Associate	22591407
Cerebellar Diseases	Associate	26130693, 34592644
Cerebellar Hypoplasia	Associate	26732629
Cerebral Ventricle Neoplasms	Associate	34592644
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules	Associate	28013290
Colorectal Neoplasms	Associate	32453965
Congenital Cranial Dysinnervation Disorders	Associate	23001566
congenital fibrosis of the extraocular muscles	Associate	23001566, 33649541
Epilepsy	Associate	33082561
Familial schizencephaly	Associate	22591407
Hereditary leiomyomatosis and renal cell cancer	Associate	24633193
Hodgkin Disease	Associate	24633193
Kidney Neoplasms	Associate	36189312
Language Development Disorders	Associate	34592644
Lissencephaly	Associate	22333901, 25059107, 26564436
Malformations of Cortical Development	Associate	22333901, 22591407, 26130693, 30704335, 32570172, 33082561, 33649541, 34592644
Melanoma	Associate	34826184
Mental Disorders	Associate	34638726
Microcephaly	Associate	22591407, 26732629
Motor Skills Disorders	Associate	34592644
Neuroblastoma	Associate	31432180
Neurologic Manifestations	Associate	22591407
Oculomotor Nerve Injuries	Associate	22591407
Optic Nerve Hypoplasia	Associate	33806565
Osteoporosis	Associate	35757478
Pena Shokeir syndrome type 1	Associate	26732629
Periventricular Nodular Heterotopia	Associate	25059107
Polymicrogyria	Associate	22333901, 22591407, 23001566, 25059107, 37486637
Polymicrogyria Asymmetric	Associate	19465910
Prostatic Neoplasms	Associate	33734457
Spinal Cord Diseases	Associate	26732629
Spinocerebellar Ataxia 29	Associate	30704335
Syndrome	Associate	28013290