TUBA1A (tubulin alpha 1a)

Gene

• Entrez ID: 7846
• Gene name: Tubulin alpha 1a
• Gene symbol: TUBA1A
• Synonyms (NCBI Gene): B-ALPHA-1, LIS3, TUBA3
• Disease Acronyms (UniProt): LIS3
• Chromosome: 12
• Chromosome location: 12q13.12
• Summary: Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulins. The genes encoding these microtubule constituents belong to the tubulin superfamily, which is composed of six

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs113208258	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs137853043	G>A,C	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs137853044	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs137853045	T>G	Pathogenic	Coding sequence variant, missense variant
rs137853046	G>T	Pathogenic	Coding sequence variant, missense variant
rs137853047	G>A	Pathogenic	Coding sequence variant, missense variant
rs137853048	A>G	Pathogenic	Coding sequence variant, missense variant
rs137853049	G>A	Pathogenic	Coding sequence variant, missense variant
rs137853050	C>T	Pathogenic	Coding sequence variant, missense variant
rs387906840	T>G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs560491477	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs587784481	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs587784482	G>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs587784483	G>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs587784484	A>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs587784485	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs587784486	A>G,T	Likely-pathogenic	Coding sequence variant, missense variant, synonymous variant
rs587784488	A>C,G	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs587784489	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs587784491	C>T	Likely-pathogenic, pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant
rs587784492	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs587784494	C>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs587784495	T>C	Pathogenic	Coding sequence variant, missense variant
rs587784497	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs753719501	G>A,T	Uncertain-significance, pathogenic	Stop gained, synonymous variant, coding sequence variant
rs769889742	C>A,G,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs786205479	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs797045005	A>G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs797046071	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs797046072	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs797046073	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs863224938	C>G,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs886039513	G>A	Pathogenic	Coding sequence variant, missense variant
rs886043627	C>T	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Coding sequence variant, missense variant
rs1057517843	C>A,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1057517858	C>A,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1057520574	G>C	Likely-pathogenic, pathogenic	5 prime UTR variant, missense variant, coding sequence variant
rs1057521063	A>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1057521064	C>G	Pathogenic	5 prime UTR variant, missense variant, coding sequence variant
rs1057521986	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793286	G>A,C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1064794568	G>A,T	Pathogenic	Synonymous variant, missense variant, coding sequence variant
rs1064795213	T>C	Uncertain-significance, likely-pathogenic, pathogenic	5 prime UTR variant, missense variant, coding sequence variant
rs1064795417	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1064795738	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1064796460	C>G,T	Pathogenic-likely-pathogenic, likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1085307724	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1085308005	C>T	Uncertain-significance, likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1131691318	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691349	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691597	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555162242	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555162288	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs1555162294	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1555162299	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs1555162303	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1555162307	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555162323	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs1555162325	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs1555162327	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1555162330	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1555162392	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555162407	C>A,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs1555162456	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs1555162486	C>A	Pathogenic	Missense variant, coding sequence variant
rs1555162536	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555162549	G>A	Likely-pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs1565626826	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1565626851	C>T	Pathogenic	Missense variant, coding sequence variant
rs1565626860	C>G	Pathogenic	Missense variant, coding sequence variant
rs1565626872	C>G	Pathogenic	Missense variant, coding sequence variant
rs1565626928	C>T	Pathogenic	Missense variant, coding sequence variant
rs1565626951	C>A	Pathogenic	Missense variant, coding sequence variant
rs1565626959	G>A	Pathogenic	Missense variant, coding sequence variant
rs1565626988	A>T	Pathogenic	Missense variant, coding sequence variant
rs1565627023	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1565627040	T>C	Pathogenic	Missense variant, coding sequence variant
rs1565627046	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs1565627058	T>C,G	Pathogenic	Synonymous variant, missense variant, coding sequence variant
rs1565627104	A>C,G	Pathogenic	Missense variant, coding sequence variant
rs1565627116	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1565627164	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1565627184	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1565627190	C>A	Pathogenic	Missense variant, coding sequence variant
rs1565627198	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1565627220	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1565627253	T>C	Pathogenic	Missense variant, coding sequence variant
rs1565627260	C>T	Pathogenic	Missense variant, coding sequence variant
rs1565627282	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1565627304	G>A	Pathogenic	Missense variant, coding sequence variant
rs1565627324	G>A	Pathogenic	Missense variant, coding sequence variant
rs1565627339	G>A	Pathogenic	Missense variant, coding sequence variant
rs1565627349	T>C	Pathogenic	Missense variant, coding sequence variant
rs1565627360	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1565627364	A>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1565627390	G>T	Pathogenic	Missense variant, coding sequence variant
rs1565627513	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1565627517	T>C	Pathogenic	Missense variant, coding sequence variant
rs1565627526	T>C	Pathogenic	Missense variant, coding sequence variant
rs1565627548	G>C	Pathogenic	Missense variant, coding sequence variant
rs1565627677	G>C	Pathogenic	Missense variant, coding sequence variant
rs1565627680	G>A	Pathogenic	Missense variant, coding sequence variant
rs1565627684	A>G	Pathogenic	Missense variant, coding sequence variant
rs1565627707	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1565627712	C>T	Pathogenic	Missense variant, coding sequence variant
rs1565627718	C>G	Pathogenic	Missense variant, coding sequence variant
rs1565627727	G>A	Pathogenic	Missense variant, coding sequence variant
rs1565627735	C>T	Pathogenic	Missense variant, coding sequence variant
rs1565627740	C>T	Pathogenic	Missense variant, coding sequence variant
rs1565627777	C>A,T	Pathogenic, likely-pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs1565627791	C>T	Likely-pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs1565627795	A>G	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs1565627805	G>T	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs1592259391	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1592260393	T>C	Likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022850	hsa-miR-124-3p	Microarray	18668037
MIRT001765	hsa-miR-30a-3p	qRT-PCR	16239240
MIRT051216	hsa-miR-16-5p	CLASH	23622248
MIRT047713	hsa-miR-10a-5p	CLASH	23622248
MIRT043046	hsa-miR-324-5p	CLASH	23622248
MIRT040369	hsa-miR-615-3p	CLASH	23622248
MIRT037731	hsa-miR-744-5p	CLASH	23622248
MIRT037050	hsa-miR-877-3p	CLASH	23622248
MIRT439375	hsa-miR-412-3p	HITS-CLIP	24374217
MIRT439375	hsa-miR-412-3p	HITS-CLIP	24374217
MIRT1462966	hsa-miR-15a	CLIP-seq
MIRT1462967	hsa-miR-15b	CLIP-seq
MIRT1462968	hsa-miR-16	CLIP-seq
MIRT1462969	hsa-miR-195	CLIP-seq
MIRT1462970	hsa-miR-3065-3p	CLIP-seq
MIRT1462971	hsa-miR-339-5p	CLIP-seq
MIRT1462972	hsa-miR-3607-3p	CLIP-seq
MIRT1462973	hsa-miR-424	CLIP-seq
MIRT1462974	hsa-miR-497	CLIP-seq
MIRT1462975	hsa-miR-670	CLIP-seq
MIRT1462976	hsa-miR-758	CLIP-seq
MIRT1462966	hsa-miR-15a	CLIP-seq
MIRT1462967	hsa-miR-15b	CLIP-seq
MIRT1462968	hsa-miR-16	CLIP-seq
MIRT1462969	hsa-miR-195	CLIP-seq
MIRT1462970	hsa-miR-3065-3p	CLIP-seq
MIRT1462971	hsa-miR-339-5p	CLIP-seq
MIRT1462972	hsa-miR-3607-3p	CLIP-seq
MIRT1462973	hsa-miR-424	CLIP-seq
MIRT1462974	hsa-miR-497	CLIP-seq
MIRT1462975	hsa-miR-670	CLIP-seq
MIRT1462976	hsa-miR-758	CLIP-seq
MIRT2360010	hsa-miR-1273d	CLIP-seq
MIRT2360011	hsa-miR-1303	CLIP-seq
MIRT1462966	hsa-miR-15a	CLIP-seq
MIRT1462967	hsa-miR-15b	CLIP-seq
MIRT1462968	hsa-miR-16	CLIP-seq
MIRT1462969	hsa-miR-195	CLIP-seq
MIRT2360012	hsa-miR-2278	CLIP-seq
MIRT1462970	hsa-miR-3065-3p	CLIP-seq
MIRT1462971	hsa-miR-339-5p	CLIP-seq
MIRT1462972	hsa-miR-3607-3p	CLIP-seq
MIRT1462973	hsa-miR-424	CLIP-seq
MIRT2360013	hsa-miR-4307	CLIP-seq
MIRT2360014	hsa-miR-4694-3p	CLIP-seq
MIRT1462974	hsa-miR-497	CLIP-seq
MIRT1462975	hsa-miR-670	CLIP-seq
MIRT1462976	hsa-miR-758	CLIP-seq
MIRT2653238	hsa-miR-1179	CLIP-seq
MIRT2360010	hsa-miR-1273d	CLIP-seq
MIRT2360011	hsa-miR-1303	CLIP-seq
MIRT2653239	hsa-miR-1305	CLIP-seq
MIRT2653240	hsa-miR-1323	CLIP-seq
MIRT1462966	hsa-miR-15a	CLIP-seq
MIRT1462967	hsa-miR-15b	CLIP-seq
MIRT1462968	hsa-miR-16	CLIP-seq
MIRT2653241	hsa-miR-193a-5p	CLIP-seq
MIRT2653242	hsa-miR-194	CLIP-seq
MIRT1462969	hsa-miR-195	CLIP-seq
MIRT2653243	hsa-miR-221	CLIP-seq
MIRT2653244	hsa-miR-222	CLIP-seq
MIRT2360012	hsa-miR-2278	CLIP-seq
MIRT1462970	hsa-miR-3065-3p	CLIP-seq
MIRT2653245	hsa-miR-330-3p	CLIP-seq
MIRT1462971	hsa-miR-339-5p	CLIP-seq
MIRT1462972	hsa-miR-3607-3p	CLIP-seq
MIRT2653246	hsa-miR-3686	CLIP-seq
MIRT2653247	hsa-miR-383	CLIP-seq
MIRT1462973	hsa-miR-424	CLIP-seq
MIRT2653248	hsa-miR-4272	CLIP-seq
MIRT2360013	hsa-miR-4307	CLIP-seq
MIRT2653249	hsa-miR-4422	CLIP-seq
MIRT2653250	hsa-miR-4453	CLIP-seq
MIRT2653251	hsa-miR-4520a-3p	CLIP-seq
MIRT2653252	hsa-miR-4538	CLIP-seq
MIRT2360014	hsa-miR-4694-3p	CLIP-seq
MIRT2653253	hsa-miR-4712-3p	CLIP-seq
MIRT2653254	hsa-miR-4772-5p	CLIP-seq
MIRT2653255	hsa-miR-495	CLIP-seq
MIRT1462974	hsa-miR-497	CLIP-seq
MIRT2653256	hsa-miR-548o	CLIP-seq
MIRT2653257	hsa-miR-548v	CLIP-seq
MIRT2653258	hsa-miR-568	CLIP-seq
MIRT1462975	hsa-miR-670	CLIP-seq
MIRT1462976	hsa-miR-758	CLIP-seq
MIRT2653238	hsa-miR-1179	CLIP-seq
MIRT2360010	hsa-miR-1273d	CLIP-seq
MIRT2360011	hsa-miR-1303	CLIP-seq
MIRT2653239	hsa-miR-1305	CLIP-seq
MIRT2653240	hsa-miR-1323	CLIP-seq
MIRT1462966	hsa-miR-15a	CLIP-seq
MIRT1462967	hsa-miR-15b	CLIP-seq
MIRT1462968	hsa-miR-16	CLIP-seq
MIRT2653241	hsa-miR-193a-5p	CLIP-seq
MIRT2653242	hsa-miR-194	CLIP-seq
MIRT1462969	hsa-miR-195	CLIP-seq
MIRT2653243	hsa-miR-221	CLIP-seq
MIRT2653244	hsa-miR-222	CLIP-seq
MIRT2360012	hsa-miR-2278	CLIP-seq
MIRT1462970	hsa-miR-3065-3p	CLIP-seq
MIRT2653245	hsa-miR-330-3p	CLIP-seq
MIRT1462971	hsa-miR-339-5p	CLIP-seq
MIRT1462972	hsa-miR-3607-3p	CLIP-seq
MIRT2694488	hsa-miR-3617	CLIP-seq
MIRT2653246	hsa-miR-3686	CLIP-seq
MIRT2653247	hsa-miR-383	CLIP-seq
MIRT1462973	hsa-miR-424	CLIP-seq
MIRT2653248	hsa-miR-4272	CLIP-seq
MIRT2360013	hsa-miR-4307	CLIP-seq
MIRT2653249	hsa-miR-4422	CLIP-seq
MIRT2653250	hsa-miR-4453	CLIP-seq
MIRT2653251	hsa-miR-4520a-3p	CLIP-seq
MIRT2653252	hsa-miR-4538	CLIP-seq
MIRT2360014	hsa-miR-4694-3p	CLIP-seq
MIRT2653254	hsa-miR-4772-5p	CLIP-seq
MIRT2653255	hsa-miR-495	CLIP-seq
MIRT1462974	hsa-miR-497	CLIP-seq
MIRT2653256	hsa-miR-548o	CLIP-seq
MIRT2653257	hsa-miR-548v	CLIP-seq
MIRT2694489	hsa-miR-641	CLIP-seq
MIRT1462975	hsa-miR-670	CLIP-seq
MIRT1462976	hsa-miR-758	CLIP-seq

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:0005198	Function	Structural molecule activity	TAS	12090300
GO:0005200	Function	Structural constituent of cytoskeleton	IBA	21873635
GO:0005515	Function	Protein binding	IPI	15657067, 17563362, 19893491, 20195357, 21339331, 24189400, 24658140, 25609649, 30274285, 31980649, 32814053
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:0005874	Component	Microtubule	TAS	12090300
GO:0005881	Component	Cytoplasmic microtubule	IEA
GO:0007017	Process	Microtubule-based process	TAS	12090300
GO:0010389	Process	Regulation of G2/M transition of mitotic cell cycle	TAS
GO:0015630	Component	Microtubule cytoskeleton	IDA
GO:0019904	Function	Protein domain specific binding	IEA
GO:0030705	Process	Cytoskeleton-dependent intracellular transport	TAS	12090300
GO:0031594	Component	Neuromuscular junction	IEA
GO:0036464	Component	Cytoplasmic ribonucleoprotein granule	IDA	15121898
GO:0042802	Function	Identical protein binding	IPI	29568061, 30274285
GO:0043209	Component	Myelin sheath	IEA
GO:0045121	Component	Membrane raft	IEA
GO:0050807	Process	Regulation of synapse organization	IEA
GO:0051301	Process	Cell division	TAS	12090300
GO:0055037	Component	Recycling endosome	IDA	24561039
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708
GO:0097711	Process	Ciliary basal body-plasma membrane docking	TAS

Other IDs

• MIM: 602529
• HGNC: 20766
• e!Ensembl: ENSG00000167552

Protein

• UniProt ID: Q71U36
• Protein name: Tubulin alpha-1A chain (EC 3.6.5.-) (Alpha-tubulin 3) (Tubulin B-alpha-1) (Tubulin alpha-3 chain) [Cleaved into: Detyrosinated tubulin alpha-1A 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
• PDB: 5JCO, 6J8F, 6WSL, 7C1M, 7UN1, 7UNG, 8J07, 8SH7
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00091	Tubulin	3 → 214	Tubulin/FtsZ family, GTPase domain	Domain
  PF03953	Tubulin_C	263 → 393	Tubulin C-terminal domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed at a high level in fetal brain. {ECO:0000269|PubMed:17584854}.
• Sequence:

  MRECISIHVGQAGVQIGNACWELYCLEHGIQPDGQMPSDKTIGGGDDSFNTFFSETGAGK
  HVPRAVFVDLEPTVIDEVRTGTYRQLFHPEQLITGKEDAANNYARGHYTIGKEIIDLVLD
  RIRKLADQCTGLQGFLVFHSFGGGTGSGFTSLLMERLSVDYGKKSKLEFSIYPAPQVSTA
  VVEPYNSILTTHTTLEHSDCAFMVDNEAIYDICRRNLDIERPTYTNLNRLIGQIVSSITA
  SLRFDGALNVDLTEFQTNLVPYPRIHFPLATYAPVISAEKAYHEQLSVAEITNACFEPAN
  QMVKCDPRHGKYMACCLLYRGDVVPKDVNAAIATIKTKRTIQFVDWCPTGFKVGINYQPP
  TVVPGGDLAKVQRAVCMLSNTTAIAEAWARLDHKFDLMYAKRAFVHWYVGEGMEEGEFSE
  AREDMAALEKDYEEVGVDSVEGEGEEEGEEY

• Sequence length: 451

Pathways

KEGG:

Phagosome
Apoptosis
Tight junction
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
Agenesis of corpus callosum	Agenesis of corpus callosum	rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Limb-girdle muscular dystrophy	Alpha-Sarcoglycanopathies	rs2137534216, rs104894422, rs762777463, rs104894423, rs137854524, rs137854521, rs137854523, rs137854529, rs398123555, rs119463996, rs587777814, rs119463992, rs267606971, rs267606967, rs28941782, rs119462982, rs193919335, rs28940869, rs193919336, rs28937900, rs587777823, rs104894682, rs28937901, rs28937903, rs28937905, rs104894689, rs104894691, rs104894692, rs121908110, rs104894655, rs786205076, rs121908955, rs786200896, rs786205082, rs121908956, rs745891180, rs121908957, rs28937581, rs121908958, rs121908959, rs121908960, rs121908961, rs786205083, rs121908963, rs786200897, rs786200898, rs727503909, rs1369919728, rs121909295, rs121909296, rs121909297, rs267607045, rs28936383, rs104893868, rs751427729, rs1578125670, rs104893869, rs104893870, rs104893871, rs137852621, rs137852622, rs28933693, rs397514451, rs137852623, rs281864927, rs281864928, rs121913572, rs80338802, rs121434544, rs121434545, rs121434546, rs121434547, rs1555423217, rs267606703, rs80338803, rs80338800, rs121434548, rs786205084, rs80338801, rs864309673, rs387907046, rs387907047, rs149278319, rs387907150, rs387907298, rs202247791, rs202247790, rs281864930, rs281865464, rs137854528, rs397514501, rs397515400, rs150518260, rs397517547, rs397517643, rs397517921, rs386834012, rs138642840, rs386834019, rs397509417, rs397509418, rs397509422, rs397509424, rs397509425, rs397509426, rs202160208, rs142336618, rs199922550, rs371675217, rs398123098, rs201736037, rs398123143, rs201892814, rs398123146, rs149095128, rs398123149, rs398123150, rs398123262, rs398123373, rs398123763, rs398123764, rs398123765, rs202044973, rs398123767, rs398123768, rs398123770, rs377735262, rs140108514, rs398123781, rs398123782, rs398123786, rs398123787, rs398123789, rs398123794, rs398123796, rs398123797, rs398123799, rs373585652, rs398123800, rs398123802, rs398123807, rs201869739, rs398124395, rs199501657, rs398124625, rs587780289, rs587780290, rs587780423, rs587777423, rs587777430, rs587777431, rs137854526, rs137854527, rs45495192, rs587777669, rs587777797, rs587777798, rs587784483, rs727504535, rs727503422, rs727503839, rs727503911, rs141656719, rs143570936, rs727503837, rs727503910, rs727503915, rs757888349, rs768814872, rs786204786, rs200923373, rs796065318, rs794726871, rs796065319, rs557164942, rs794727158, rs762471207, rs797044667, rs794727318, rs201049092, rs794727350, rs778768583, rs756328339, rs794727544, rs370874727, rs794727636, rs201725369, rs766016391, rs794727697, rs794727745, rs760608643, rs794727851, rs141497053, rs794729178, rs797045106, rs797045427, rs766341386, rs779987458, rs1801505, rs376107921, rs863224933, rs863225020, rs863225019, rs746873768, rs369607332, rs863225021, rs372221490, rs566415362, rs774048743, rs863224958, rs863224963, rs863224964, rs863224965, rs863224966, rs374665929, rs863224956, rs863224957, rs863224959, rs863224960, rs863224961, rs863224962, rs758647756, rs869025337, rs869025562, rs779129892, rs869312122, rs543860009, rs150877497, rs878854367, rs878854364, rs869320700, rs869320701, rs759982570, rs869320702, rs142908436, rs875989850, rs875989851, rs1553775212, rs875989949, rs876657664, rs878854324, rs879255612, rs746315830, rs886039573, rs747349942, rs886039597, rs886041052, rs886041053, rs199870606, rs761211705, rs776043976, rs886041335, rs886041387, rs1555421871, rs886042091, rs886042093, rs547818652, rs886042108, rs886042110, rs749099493, rs200646556, rs80338804, rs761897806, rs149914792, rs543163491, rs886042379, rs886042389, rs868791726, rs369552114, rs886042418, rs886042439, rs886042440, rs528417986, rs764459544, rs151317754, rs886042478, rs886042503, rs886042504, rs886042506, rs139836397, rs770617208, rs886042540, rs886042546, rs886042557, rs886042573, rs886042578, rs886042584, rs768090444, rs886042617, rs753861836, rs886042641, rs200502077, rs886042749, rs886042757, rs777323132, rs753360208, rs886042827, rs202218890, rs752492870, rs773827877, rs886042895, rs138945081, rs149827237, rs886042951, rs776059672, rs886042964, rs780264754, rs779701414, rs769721856, rs886043031, rs142073798, rs770894443, rs777483913, rs760205277, rs368970223, rs886043221, rs281865480, rs372210292, rs746243052, rs886043392, rs746935735, rs886043432, rs778065845, rs781013226, rs756339648, rs886043706, rs886043752, rs758775001, rs886043860, rs773001194, rs747557404, rs886043900, rs886043962, rs886043964, rs886043966, rs886044004, rs747719953, rs886044052, rs775130589, rs886044083, rs199806879, rs886044183, rs766433603, rs147764579, rs781760379, rs757481230, rs886044377, rs886044379, rs886044381, rs886044411, rs747289205, rs886044422, rs752848213, rs886044475, rs200206447, rs753650776, rs886044527, rs761257703, rs886044688, rs1057516051, rs1057516515, rs780596734, rs1057517051, rs1057516360, rs747809412, rs1057517064, rs1057517205, rs773884973, rs1057517107, rs1057516300, rs1057516650, rs1057517142, rs763986788, rs1057516242, rs1057516888, rs1057516664, rs1057517377, rs1057516548, rs1057516729, rs550944082, rs1057519132, rs150331292, rs1057521141, rs754415994, rs1057524468, rs375159973, rs1554094947, rs1064794020, rs1064797040, rs1064793620, rs144356125, rs1085307995, rs1085307534, rs1131692158, rs750195040, rs1555568335, rs1555568318, rs1555420475, rs199954546, rs1555606976, rs1403946332, rs1553482872, rs1553543506, rs1554269966, rs1555420075, rs769688710, rs778568339, rs769785004, rs1554009901, rs1186858080, rs140403642, rs1553940687, rs775458201, rs751427686, rs1553940274, rs1380525804, rs1168346560, rs1555248000, rs200379491, rs752640127, rs200166783, rs1327595249, rs1290836394, rs753811189, rs1023002894, rs1553420848, rs1553555585, rs369784333, rs901764287, rs1285082850, rs766156798, rs1555568518, rs1573744795, rs1555568264, rs766334893, rs1555423060, rs138254713, rs1342189589, rs1555421523, rs747685252, rs1555421524, rs1555420462, rs142004418, rs1247934219, rs756118312, rs1553556116, rs1553522133, rs555514820, rs147774793, rs1553416025, rs776472879, rs1274808359, rs1555420634, rs112500642, rs188150039, rs1446214240, rs1366387924, rs1220674950, rs1009131948, rs1250461669, rs1555606959, rs201518227, rs1553521119, rs1013015106, rs773386253, rs1554007706, rs1553939675, rs1448040082, rs561719071, rs745967703, rs1275289254, rs1555420642, rs1301397800, rs770905160, rs200916654, rs758058910, rs773736505, rs1554930314, rs1259378167, rs1553495983, rs1278864604, rs1553521017, rs1553522730, rs779969348, rs139258703, rs1553376558, rs1553381945, rs1474151297, rs766891289, rs1553531682, rs766936914, rs199543257, rs1420930684, rs1553376691, rs757917335, rs1553408378, rs751473506, rs1451269647, rs1459713589, rs1553522104, rs1553522751, rs768546511, rs1553535902, rs1236367931, rs1553541329, rs1380642629, rs778092738, rs1213965862, rs1553412826, rs1553422709, rs1553422723, rs1553518087, rs1553536007, rs1553537332, rs1553542142, rs750028300, rs763674597, rs1553377764, rs1553414413, rs1553415211, rs909564120, rs771257070, rs1264362642, rs1267810339, rs1553940262, rs1553940079, rs762652676, rs1553940661, rs1553940663, rs1553940957, rs762114570, rs1555234810, rs1555247973, rs780348174, rs1555234799, rs913248720, rs1555248289, rs1199421806, rs1555240119, rs758078849, rs1555245353, rs1555420468, rs1555420507, rs1345121557, rs1555421263, rs1555422293, rs1555422298, rs1555422832, rs1555423021, rs1555417271, rs1555420302, rs750083132, rs1555420765, rs746075428, rs1555422954, rs760919949, rs764086484, rs1555420647, rs1555421271, rs1555421847, rs1334369407, rs1555423015, rs768374736, rs1555423046, rs1555417257, rs1555417321, rs1555420083, rs1459288402, rs1555421280, rs1555421293, rs1555421842, rs1555421854, rs1293496023, rs767739787, rs1555422839, rs1555422847, rs1555422856, rs777636094, rs1555423027, rs766917640, rs1555423146, rs1447774727, rs1555423222, rs1412537279, rs1555568775, rs1555569339, rs903823830, rs1555568965, rs1555569342, rs763372958, rs1555738245, rs1555738502, rs1555738568, rs1555738651, rs752731569, rs1555738764, rs765885747, rs1555738149, rs1555738883, rs1555738201, rs1555738753, rs587780334, rs1555739041, rs748087383, rs768606230, rs1555568325, rs1555568396, rs1555568876, rs770711331, rs1191737604, rs1555738823, rs1173430388, rs1555738204, rs1555738311, rs1555738456, rs1555738686, rs1555738675, rs1483781400, rs754403441, rs1555739280, rs1555739333, rs1553416039, rs1559697515, rs1554094927, rs1566965806, rs754761503, rs1162942997, rs1567739339, rs1566975163, rs766400853, rs1562273395, rs1562497781, rs1562200866, rs1559446852, rs1563083759, rs1559177278, rs534484592, rs1567739228, rs1598277713, rs1566983844, rs769873428, rs1564930625, rs1567739735, rs1567741398, rs1432706111, rs756689063, rs1558708492, rs1566011034, rs1387802849, rs760915007, rs1559267059, rs767120669, rs1180079162, rs762946781, rs1566984441, rs1559053603, rs1558771348, rs1560034617, rs569565392, rs1483190866, rs750976634, rs750443041, rs1456182703, rs1559109621, rs1562137622, rs1562133291, rs796206315, rs1332603843, rs763586263, rs191912891, rs761935462, rs1558783870, rs777924443, rs1558613592, rs1583845651, rs1574340607, rs1573704236, rs1574016452, rs778326858, rs887577241, rs1337417322, rs1574097294, rs758993965, rs1574354515, rs1573060017, rs1397263011, rs1262459682, rs1595821204, rs781723572, rs1595838545, rs1595845459, rs1595846922, rs1598265248, rs748798133, rs1180978840, rs1571735403, rs1595826673, rs1583591577, rs1573100371, rs778539477, rs1573671276, rs1573094789, rs866823474, rs1599937963, rs1593197637, rs1364860348, rs754889480, rs1574277160, rs1573138336, rs746844753, rs1577824925, rs936193061, rs1578126090, rs1185229314, rs1392196900, rs776988725, rs11581962, rs1595837172, rs1595794433, rs1575185742, rs1575285509, rs557526069, rs753711667, rs1574264671, rs758107024, rs1574341049, rs1572994572, rs1573009747, rs1590300702, rs1233836740, rs1593216248, rs1229291913, rs1595828703, rs1555421532, rs1595844413, rs1595847257, rs778851652, rs1200988060, rs1574817395, rs575938861, rs1648544786, rs971134497, rs762398889, rs1395588065, rs1737457235, rs1776950897, rs1351510337, rs1881219252, rs1011397929, rs1325816562, rs2052593499, rs2053401167, rs2053442769, rs1566975090, rs763719290, rs2053485642, rs2053509916, rs1409503203, rs774048414, rs2054186817, rs1457010016, rs1904771410, rs1904986620, rs1905103030, rs1905167458, rs1905254738, rs1905256830, rs760989961, rs905322985, rs756798409, rs1883152345, rs113109898, rs1437210856, rs1311819000, rs1054547392, rs150877512, rs1688921542
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
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
Mental retardation	Severe intellectual disability, 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	17584854
Lissencephaly	Lissencephaly, Lissencephaly 3, Lissencephaly due to TUBA1A mutation	rs137853043, rs137853044, rs137853045, rs137853046, rs137853047, rs137853048, rs137853049, rs137853050, rs121434482, rs121434483, rs1567561137, rs121434485, rs121434486, rs121434487, rs121434489, rs121434490, rs104894779, rs104894780, rs104894781, rs122457137, rs104894782, rs56030372, rs104894786, rs113994203, rs113994200, rs113994198, rs113994202, rs281875328, rs281875329, rs387906840, rs756206942, rs749768828, rs397509412, rs398122369, rs587784484, rs587784483, rs587784482, rs587784481, rs587784497, rs587784495, rs587784494, rs587784492, rs587784488, rs587784486, rs587784485, rs587784491, rs576928842, rs587784265, rs587784260, rs587784262, rs587784272, rs587784285, rs369259961, rs587784250, rs587784252, rs587784253, rs587784257, rs587784256, rs587784258, rs587784259, rs587784261, rs587784263, rs587784264, rs587784266, rs587784267, rs587784268, rs587784269, rs200390886, rs587784270, rs587784271, rs587784273, rs587784274, rs587784275, rs587784276, rs587784277, rs587784278, rs587784281, rs587784279, rs587784280, rs587784282, rs587784284, rs587784286, rs587784287, rs587784289, rs587784291, rs587784290, rs587784292, rs587784293, rs587784294, rs587784235, rs587784236, rs587784237, rs587784238, rs587784239, rs587784240, rs587784241, rs587784242, rs587784244, rs587784243, rs587784245, rs587784247, rs587784248, rs587784249, rs587784251, rs587783592, rs587783590, rs587783589, rs587783568, rs587783558, rs104894784, rs587783534, rs587783519, rs794729199, rs797045005, rs797045177, rs797045178, rs797045061, rs797046071, rs797046073, rs797046072, rs797045529, rs797045866, rs797045857, rs797045858, rs797045859, rs797045861, rs797045863, rs797045864, rs797045865, rs797045867, rs797045868, rs797045869, rs797045870, rs797045871, rs797045872, rs1555527743, rs797045855, rs797045512, rs863224938, rs757725348, rs886039513, rs886041341, rs886043627, rs1057517696, rs1057517697, rs1057519417, rs754200057, rs1057517698, rs1057517843, rs1057520515, rs1064796460, rs1064793286, rs1064794568, rs1064796765, rs1064794223, rs1131691295, rs1555162507, rs1554126886, rs1555162294, rs1555162456, rs1456594953, rs1555526718, rs1555526733, rs1555527149, rs1556401744, rs1556401951, rs1555162325, rs1556405129, rs761786389, rs1555162323, rs1555526298, rs1555526309, rs1567559851, rs1565627513, rs1488808726, rs1557668270, rs1557670503, rs1557670515, rs1557670520, rs757604577, rs1565626928, rs1565627526, rs1565627727, rs1592260393, rs1565627777, rs1603423268, rs1592259391, rs2069271269, rs1942168488, rs1942171146, rs1942172759, rs1775537467, rs1774229245, rs1774228957, rs754052089, rs1774226763, rs1942166930, rs1942187200	18728072, 17584854, 26633545, 29706646, 18954413, 24860126, 25818041, 22264709, 18669490, 22948023, 20466733
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
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732	23361065, 26795593, 18728072, 18669490, 18954413, 23528852, 20466733, 25008804, 22264709, 17584854, 24860126
Polymicrogyria	Polymicrogyria	rs1558010146, rs1558003446, rs1575508937
Tubulinopathy-associated dysgyria	Tubulinopathy-associated dysgyria	rs137853044, rs587784491, rs1942166930

Unknown
Disease term	Disease name	Evidence	References	Source
Tubulinopathy-Associated Dysgyria	tubulinopathy-associated dysgyria			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma of Lung	Associate	38095634
Agenesis of Cerebellar Vermis	Associate	37131188
Agenesis of Corpus Callosum	Associate	20466733, 25053001, 25059107, 26493046
Allanson Pantzar McLeod syndrome	Associate	22948023, 26493046
Anemia Aplastic	Associate	22948023
Arthritis Rheumatoid	Associate	34079550
Basal Ganglia Diseases	Associate	22948023, 40179460
Brain Diseases	Associate	22948023
Brain Stem Neoplasms	Associate	22948023
Central Nervous System Vascular Malformations	Associate	26493046
Cerebellar Diseases	Associate	22948023, 26130693
Cerebellar Hypoplasia	Associate	20466733, 25053001, 25059107
congenital fibrosis of the extraocular muscles	Associate	33649541
Death	Associate	39202391
Developmental Disabilities	Associate	35636247
Diabetes Mellitus	Associate	29867058
Diabetic Nephropathies	Associate	36092962
Disorders of Sex Development	Associate	39202391
Epididymitis	Associate	24726218
Epilepsies Myoclonic	Associate	35017693
Hemangioma Cavernous Central Nervous System	Associate	22948023
Hydranencephaly	Associate	26493046
Hydrocephalus	Associate	26493046
Infertility	Associate	24726218
Intellectual Disability	Associate	35837997
Lissencephaly	Associate	19896110, 20466733, 22948023, 25053001, 25059107, 26188257, 26493046, 27431206, 29671837
Malformations of Cortical Development	Associate	25053001, 32570172, 33082561, 33649541
Malformations of Cortical Development Group II	Associate	22948023, 34211111
Megalancephaly Polymicrogyria Polydactyly Hydrocephalus Syndrome	Associate	22948023
Megalencephaly	Associate	39202391
Mental Disorders	Associate	34638726
Microcephaly	Associate	25053001, 25059107
Multiple Sclerosis	Associate	23469041
Myoclonic Epilepsy Juvenile	Associate	15201329
Neoplasms	Associate	33331338
Neurologic Manifestations	Associate	22591407
Perisylvian syndrome	Associate	22948023
Polymicrogyria	Associate	22948023, 25059107
Prostatic Neoplasms	Associate	37008945
Stomach Neoplasms	Associate	33331338
Walker Warburg Syndrome	Associate	39202391