TUBA1A (tubulin alpha 1a)

Gene

• Entrez ID: 7846
• Gene name: Tubulin alpha 1a
• Gene symbol: TUBA1A
• Synonyms (NCBI Gene): B-ALPHA-1, LIS3, TUBA3
• 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:0000166	Function	Nucleotide binding	IEA
GO:0000226	Process	Microtubule cytoskeleton organization	IBA
GO:0000226	Process	Microtubule cytoskeleton organization	IEA
GO:0000278	Process	Mitotic cell cycle	IBA
GO:0000793	Component	Condensed chromosome	IEA
GO:0001764	Process	Neuron migration	IEA
GO:0001964	Process	Startle response	IEA
GO:0005198	Function	Structural molecule activity	TAS	12090300
GO:0005200	Function	Structural constituent of cytoskeleton	IBA
GO:0005200	Function	Structural constituent of cytoskeleton	IEA
GO:0005515	Function	Protein binding	IPI	15657067, 17563362, 19893491, 20195357, 21339331, 24189400, 24658140, 25609649, 30274285, 31980649, 32814053, 33961781, 35063084
GO:0005525	Function	GTP binding	IBA
GO:0005525	Function	GTP binding	IEA
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	IBA
GO:0005874	Component	Microtubule	IDA	21525035
GO:0005874	Component	Microtubule	IEA
GO:0005874	Component	Microtubule	TAS	12090300
GO:0005879	Component	Axonemal microtubule	IDA	36191189
GO:0005881	Component	Cytoplasmic microtubule	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005929	Component	Cilium	IDA
GO:0005929	Component	Cilium	IEA
GO:0006886	Process	Intracellular protein transport	IEA
GO:0007017	Process	Microtubule-based process	IEA
GO:0007017	Process	Microtubule-based process	TAS	12090300
GO:0007098	Process	Centrosome cycle	IEA
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0007613	Process	Memory	IEA
GO:0007626	Process	Locomotory behavior	IEA
GO:0008344	Process	Adult locomotory behavior	IEA
GO:0008542	Process	Visual learning	IEA
GO:0009612	Process	Response to mechanical stimulus	IEA
GO:0010001	Process	Glial cell differentiation	IEA
GO:0010467	Process	Gene expression	IEA
GO:0015630	Component	Microtubule cytoskeleton	IDA
GO:0015630	Component	Microtubule cytoskeleton	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0021542	Process	Dentate gyrus development	IEA
GO:0021696	Process	Cerebellar cortex morphogenesis	IEA
GO:0021766	Process	Hippocampus development	IEA
GO:0021859	Process	Pyramidal neuron differentiation	IEA
GO:0021987	Process	Cerebral cortex development	IEA
GO:0022008	Process	Neurogenesis	IEA
GO:0030182	Process	Neuron differentiation	IEA
GO:0030317	Process	Flagellated sperm motility	IEA
GO:0030534	Process	Adult behavior	IEA
GO:0030705	Process	Cytoskeleton-dependent intracellular transport	TAS	12090300
GO:0031514	Component	Motile cilium	IEA
GO:0031594	Component	Neuromuscular junction	IEA
GO:0034612	Process	Response to tumor necrosis factor	IEA
GO:0035641	Process	Locomotory exploration behavior	IEA
GO:0036126	Component	Sperm flagellum	IEA
GO:0036464	Component	Cytoplasmic ribonucleoprotein granule	IDA	15121898
GO:0042802	Function	Identical protein binding	IPI	29568061, 30274285
GO:0042995	Component	Cell projection	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045202	Component	Synapse	IEA
GO:0046785	Process	Microtubule polymerization	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0046982	Function	Protein heterodimerization activity	IEA
GO:0048853	Process	Forebrain morphogenesis	IEA
GO:0048873	Process	Homeostasis of number of cells within a tissue	IEA
GO:0050807	Process	Regulation of synapse organization	IEA
GO:0050808	Process	Synapse organization	IEA
GO:0051301	Process	Cell division	TAS	12090300
GO:0051402	Process	Neuron apoptotic process	IEA
GO:0055037	Component	Recycling endosome	IDA	24561039
GO:0061744	Process	Motor behavior	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708
GO:0071277	Process	Cellular response to calcium ion	IEA
GO:0072384	Process	Organelle transport along microtubule	IEA
GO:0140058	Process	Neuron projection arborization	IEA
GO:1902065	Process	Response to L-glutamate	IEA

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

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abnormal brain morphology	Likely pathogenic	rs2121246535	RCV001825042	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormal brainstem morphology	Likely pathogenic; Pathogenic	rs1942169629	RCV001391277	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormal cerebral morphology	Likely pathogenic	rs1942164890	RCV002275353	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormal cortical gyration	Likely pathogenic; Pathogenic	rs1942169629	RCV001391277	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormality of neuronal migration	Likely pathogenic; Pathogenic	rs587784482	RCV000201372	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormality of the nervous system	Likely pathogenic	rs2121244360	RCV001814521	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal recessive limb-girdle muscular dystrophy type 2D	Likely pathogenic; Pathogenic	rs587784483	RCV000663417	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebellar vermis hypoplasia	Likely pathogenic	rs1565627707	RCV000779654	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebral palsy	Pathogenic; Likely pathogenic	rs2121248568, rs886039513	RCV001796561 RCV001849353	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital bilateral perisylvian syndrome	Pathogenic	rs2498862449	RCV003445288	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital cerebellar hypoplasia	Likely pathogenic	rs1565627707	RCV001258015	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital fibrosis of extraocular muscles	Likely pathogenic; Pathogenic	rs1942174390	RCV001270022	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Corpus callosum, agenesis of	Likely pathogenic; Pathogenic	rs797045005, rs1565627707	RCV001003600 RCV000779654	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cryptorchidism	Likely pathogenic; Pathogenic	rs797045005	RCV001003600	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Decreased head circumference	Likely pathogenic; Pathogenic	rs587784491	RCV001003601	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Likely pathogenic; Pathogenic	rs587784491	RCV001003601	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lissencephaly	Likely pathogenic; Pathogenic	rs2121243526, rs587784483, rs587784497, rs797045005, rs137853043, rs137853044, rs137853050	RCV001775201 RCV001291300 RCV001291301 RCV001003600 RCV001291302 RCV001291299 RCV001291201	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lissencephaly due to TUBA1A mutation	Likely pathogenic; Pathogenic	rs1942181364, rs1942164890, rs1565627190, rs2121256921, rs2121241118, rs2121245032, rs2121244979, rs2121244643, rs2121244334, rs2121243396, rs2121248103, rs146680997, rs2121244201, rs587784484, rs137853044, rs587784483, rs587784482, rs587784481, rs587784497, rs587784495, rs587784494, rs587784492, rs587784488, rs587784486, rs587784485, rs587784491, rs2498860043, rs2498860114, rs797045005, rs797046071, rs797046073, rs797046072, rs863224938, rs137853043, rs137853045, rs137853046, rs137853047, rs137853048, rs137853049, rs137853050, rs2498858790, rs886039513, rs1565627084, rs886043627, rs2498860632, rs2498863626, rs1565627805, rs1057517843, rs387906840, rs1064796460, rs1064793286, rs1064794568, rs1555162294, rs1555162456, rs1555162325, rs1555162323, rs1565627513, rs1565627072, rs1565626928, rs1565627040, rs1565627526, rs1565627727, rs1565627707, rs1592260393, rs1565627777, rs1592259391, rs1942168488, rs1942171146, rs1942172759, rs1942166930, rs1942187200, rs1942171599, rs1942173367, rs2498863253, rs1942166073	RCV003322619 RCV001329517 RCV001329519 RCV001726501 RCV001376034 RCV001788546 RCV001706803 RCV001804245 RCV001807687 RCV001824274 RCV001836670 RCV003223430 RCV002226615 RCV000147800 RCV000147799 RCV000147798 RCV000147797 RCV000147795 RCV000147794 RCV000147823 RCV000147821 RCV000147818 RCV000147816 RCV000147810 RCV000147802 RCV000147801 RCV000147815 RCV002283593 RCV003223437 RCV000190503 RCV000194532 RCV000194600 RCV000194237 RCV000199824 RCV000007486 RCV000007487 RCV000007488 RCV000007489 RCV000007490 RCV000007491 RCV000007492 RCV000007493 RCV003326027 RCV002229725 RCV005230473 RCV000381002 RCV003448524 RCV003883312 RCV004595288 RCV000496159 RCV000023197 RCV000770768 RCV001805098 RCV004556059 RCV000502059 RCV000504134 RCV000656091 RCV000578289 RCV002532842 RCV000681646 RCV000760230 RCV004556066 RCV005864029 RCV002290012 RCV000850518 RCV000779654 RCV000850184 RCV000985164 RCV000988844 RCV001072149 RCV001072148 RCV001072147 RCV001095662 RCV001095672 RCV001253582 RCV001254936 RCV001255741 RCV001257558	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lissencephaly type 3	Pathogenic; Likely pathogenic	rs2498860713, rs1565626928, rs1555162507, rs1942169629	RCV003404975 RCV003988262 RCV003464069 RCV003987801	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of urinary bladder	Pathogenic	rs1555162495	RCV005919063	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Movement disorder	Likely pathogenic	rs1057521063	RCV001849369	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs587784491	RCV001375034	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rare genetic intellectual disability	Likely pathogenic; Pathogenic	rs1064793286	RCV001257007	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Likely pathogenic; Pathogenic	rs587784491, rs2121243281	RCV001003601 RCV002275469	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TUBA1A-associated tubulinopathy	Likely pathogenic; Pathogenic	rs1057521986, rs1565626851, rs863224938	RCV001265592 RCV001843549 RCV003336173	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TUBA1A-related disorder	Pathogenic; Likely pathogenic	rs886044568, rs587784491, rs1565627084, rs2498863339, rs2498859689, rs1085307716, rs1555162323, rs1942169629	RCV003908893 RCV003895032 RCV003410314 RCV003397351 RCV003410892 RCV004730956 RCV003403438 RCV004731106	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Tubulinopathy	Likely pathogenic; Pathogenic	rs587784484, rs137853044, rs587784483, rs587784482, rs587784481, rs587784497, rs587784495, rs587784494, rs587784492, rs587784488, rs587784486, rs587784485, rs587784491, rs2498860754, rs2498860775, rs786205479, rs797045005, rs797046071, rs797046073, rs797046072, rs863224938, rs137853043, rs137853045, rs137853046, rs137853047, rs137853048, rs137853049, rs137853050, rs886039513, rs886043627, rs1057517843, rs1057521064, rs1057520574, rs1057521063, rs1057521986, rs387906840, rs1064796460, rs1064793286, rs1064795417, rs1064795738, rs1064794568, rs1085307724, rs1085308005, rs1131691349, rs1131691597, rs1555162327, rs1555162407, rs1555162536, rs1555162294, rs1555162456, rs1555162288, rs1555162325, rs1555162299, rs1555162307, rs1555162330, rs1555162303, rs1555162323, rs1555162486, rs1565626826, rs1565626851, rs1565626860, rs1565626872, rs1565626928, rs1565626951, rs1565626959, rs1565626988, rs1565627023, rs1565627046, rs1565627058, rs1565627104, rs1565627116, rs1565627184, rs1565627220, rs1057517858, rs1565627253, rs1565627260, rs1565627324, rs1565627364, rs1565627390, rs769889742, rs1565627517, rs1565627526, rs1565627548, rs1565627677, rs1565627680, rs1565627684, rs1565627712, rs1565627727, rs1565627735, rs1565627740, rs1565627777, rs1565627805	RCV000767475 RCV000767409 RCV000767408 RCV000767437 RCV000767441 RCV000767443 RCV000767446 RCV000767474 RCV000767426 RCV000767504 RCV000767508 RCV000767515 RCV000767516 RCV000767455 RCV002466380 RCV002466382 RCV000767507 RCV000767496 RCV000767479 RCV000767447 RCV000767514 RCV000767513 RCV000767404 RCV000767403 RCV000767405 RCV000767429 RCV000767406 RCV000767468 RCV000767469 RCV000767410 RCV000767482 RCV000767451 RCV000767423 RCV000767421 RCV000767454 RCV000767509 RCV000767501 RCV000767414 RCV000767439 RCV000767411 RCV000767450 RCV000767503 RCV000767424 RCV000767440 RCV000767445 RCV000767512 RCV000767444 RCV000767449 RCV000767448 RCV000767506 RCV000767511 RCV000767517 RCV000767442 RCV000767487 RCV000767438 RCV000767520 RCV000767456 RCV000767417 RCV000767457 RCV000767458 RCV000767476 RCV000767522 RCV000767435 RCV000767523 RCV000767498 RCV000767412 RCV000767491 RCV000767470 RCV000767434 RCV000767481 RCV000767483 RCV000767478 RCV000767493 RCV000767420 RCV000767416 RCV000767433 RCV000767431 RCV000767428 RCV000767473 RCV000767430 RCV000767422 RCV000767472 RCV000767413 RCV000767477 RCV000767418 RCV000767497 RCV000767471 RCV000767521 RCV000767486 RCV000767480 RCV000767489 RCV000767494 RCV000767432 RCV000767499 RCV000767495 RCV000767415 RCV000767485 RCV000767492 RCV000767407 RCV000767484 RCV000767425 RCV000767427	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Tubulinopathy-associated dysgyria	Likely pathogenic; Pathogenic	rs2121242709, rs2121244045, rs137853049, rs587784491, rs137853044, rs1942166930	RCV001803371 RCV001803468 RCV001803469 RCV001803031 RCV001801361 RCV001803226	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
West syndrome	Pathogenic	rs2121244045	RCV001803468	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, BASAL CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLAR HYPOPLASIA/ATROPHY, EPILEPSY, AND GLOBAL DEVELOPMENTAL DELAY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Continuous spike and waves during slow sleep	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dandy-Walker syndrome	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Early myoclonic encephalopathy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
FETAL AKINESIA DEFORMATION SEQUENCE	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Genetic syndrome with a Dandy-Walker malformation as major feature	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LISSENCEPHALY 3	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lissencephaly due to LIS1 mutation	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LISSENCEPHALY DUE TO TUBULIN ALPHA 1A MUTATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACROGYRIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALFORMATIONS OF CORTICAL DEVELOPMENT, GROUP II	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOVEMENT DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PENA-SHOKEIR SYNDROME TYPE I	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERISYLVIAN SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polymicrogyria	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Recurrent hand flapping	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acquired porencephaly	Acquired Porencephaly	BEFREE	29907476		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	20466733, 25059107		★☆☆☆☆ Found in Text Mining only
Agenesis of Corpus Callosum	Corpus callosum agenesis	Pubtator	20466733, 25053001, 25059107, 26493046	Associate	★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Agyria	Agyria	BEFREE	20376468		★☆☆☆☆ Found in Text Mining only
Agyria	Agyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alpha-Sarcoglycanopathies	Limb-girdle muscular dystrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	30654731		★☆☆☆☆ Found in Text Mining only
Anemia Aplastic	Aplastic anemia	Pubtator	22948023	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	34079550	Associate	★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Primary Microcephaly	Microcephaly	BEFREE	19778709		★☆☆☆☆ Found in Text Mining only
Basal Ganglia Diseases	Basal ganglia disease	Pubtator	22948023, 40179460	Associate	★☆☆☆☆ Found in Text Mining only
Behavior Disorders	Behavior Disorders	BEFREE	18669490		★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	22948023	Associate	★☆☆☆☆ Found in Text Mining only
Brain Stem Neoplasms	Brain stem neoplasms	Pubtator	22948023	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar agenesis	Cerebellar agenesis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	22948023, 26130693	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	BEFREE	18728072, 20466733, 25059107		★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar hypoplasia	Pubtator	20466733, 25053001, 25059107	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	BEFREE	25666757		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Classical Lissencephaly	Lissencephaly	BEFREE	18954413, 23317684, 25059107		★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital anomaly of brain	Brain malformation	BEFREE	18669490, 26294046, 26493046, 28687668, 30016746, 30517687, 30744660, 31574570		★☆☆☆☆ Found in Text Mining only
Congenital cataract	Congenital Cataract	BEFREE	26294046		★☆☆☆☆ Found in Text Mining only
congenital fibrosis of the extraocular muscles	Congenital fibrosis of extraocular muscles	Pubtator	33649541	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital microcephaly	Congenital Microcephaly	BEFREE	18728072		★☆☆☆☆ Found in Text Mining only
Congenital porencephaly	Congenital Porencephaly	BEFREE	29907476		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental Disabilities	Developmental disability	Pubtator	35636247	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	29867058		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29867058		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	29867058	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	36092962	Associate	★☆☆☆☆ Found in Text Mining only
Disorders of Sex Development	Disorders of sex development	Pubtator	39202391	Associate	★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	17584854, 18669490, 18728072, 18954413, 20466733, 22264709, 23361065, 23528852, 24860126, 25008804, 26795593		★☆☆☆☆ Found in Text Mining only
Epilepsies Myoclonic	Myoclonic epilepsy	Pubtator	35017693	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	23528852, 30744660		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	30744660		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hirschsprung Disease	Hirschsprung Disease	BEFREE	23528852		★☆☆☆☆ Found in Text Mining only
Histiocytosis, Langerhans-Cell	Histiocytosis	BEFREE	20466733		★☆☆☆☆ Found in Text Mining only
Hydranencephaly	Hydranencephaly	BEFREE	26493046		★☆☆☆☆ Found in Text Mining only
Hydranencephaly	Hydranencephaly	Pubtator	26493046	Associate	★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	Pubtator	26493046	Associate	★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of the optic nerve	Hypoplasia Of The Optic Nerve	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA	Inclusion Body Myopathy With Paget Disease And Frontotemporal Dementia	BEFREE	30654731		★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	24726218	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	17584854		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	BEFREE	18669490		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Intellectual developmental disorder	Pubtator	35837997	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lissencephaly	Lissencephaly	BEFREE	17584854, 18669490, 18728072, 18954413, 19778709, 20376468, 20466733, 21403111, 22264709, 22408144, 23361065, 23528852, 23583063, 24860126, 26493046, 27431206, 30517687		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lissencephaly	Lissencephaly	Pubtator	19896110, 20466733, 22948023, 25053001, 25059107, 26188257, 26493046, 27431206, 29671837	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lissencephaly	Lissencephaly	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lissencephaly 3	Lissencephaly	GENOMICS_ENGLAND_DG	17584854, 22948023		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lissencephaly 3	Lissencephaly	UNIPROT_DG	17584854, 25818041		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lissencephaly 3	Lissencephaly	ORPHANET_DG	18669490, 18954413, 22264709		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lissencephaly 3	Lissencephaly	CLINVAR_DG	18728072, 18954413, 20466733, 24860126, 26633545, 29706646		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lissencephaly 3	Lissencephaly	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lissencephaly due to TUBA1A mutation	Lissencephaly	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Macular dystrophy, corneal type 1	Macular corneal dystrophy	BEFREE	26739025		★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Malformation of cortical development	BEFREE	21403111, 24392928, 31481326		★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Cortical development malformation	Pubtator	25053001, 32570172, 33082561, 33649541	Associate	★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Malformation of cortical development	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development Group II	Cortical development malformation	Pubtator	22948023, 34211111	Associate	★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	BEFREE	18728072, 22948023		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malformations of Cortical Development, Group II	Malformation of cortical development	CLINVAR_DG	29706646		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Retardation	Mental retardation	BEFREE	18669490		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	24392928, 26294046		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	Pubtator	25053001, 25059107	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microlissencephaly	Microlissencephaly	BEFREE	24860126		★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	BEFREE	26294046		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	17584854, 18669490, 18728072, 18954413, 20466733, 22264709, 23361065, 23528852, 24860126, 25008804, 26795593		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	17584854, 18669490, 18728072, 18954413, 20466733, 22264709, 23361065, 23528852, 24860126, 25008804, 26795593		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	23469041	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	CTD_human_DG	16214533		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myoclonic Epilepsy Juvenile	Myoclonic epilepsy	Pubtator	15201329	Associate	★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	20406197		★☆☆☆☆ Found in Text Mining only
Neuronal heterotopia	Neuronal Heterotopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteitis Deformans	Paget disease	BEFREE	30654731		★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	BEFREE	17584854, 21403111, 22948023, 23317684		★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	17213182		★☆☆☆☆ Found in Text Mining only
Perisylvian syndrome	Perisylvian syndrome	Pubtator	22948023	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polymicrogyria	Polymicrogyria	BEFREE	21403111, 22264709, 22948023, 23317684, 23361065, 25059107		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polymicrogyria	Polymicrogyria	Pubtator	22948023, 25059107	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polymicrogyria	Polymicrogyria	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polymicrogyria	Polymicrogyria	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Porencephaly	Porencephaly	BEFREE	29907476		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	37008945	Associate	★☆☆☆☆ Found in Text Mining only
Retinopathy of Prematurity	Retinopathy	BEFREE	30114309		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	BEFREE	24392928		★☆☆☆☆ Found in Text Mining only
Septo-Optic Dysplasia	Septo-Optic Dysplasia	BEFREE	30114309		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spastic Quadriplegia	Spastic Quadriplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	33331338	Associate	★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	23528852		★☆☆☆☆ Found in Text Mining only
Tubulinopathy-associated dysgyria	Tubulinopathy-Associated Dysgyria	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Uranostaphyloschisis	Uranostaphyloschisis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only