TUBB2B (tubulin beta 2B class IIb)

Gene

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

SNPs

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

miRNA

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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000226	Process	Microtubule cytoskeleton organization	IBA
GO:0000278	Process	Mitotic cell cycle	IBA
GO:0001764	Process	Neuron migration	IBA
GO:0001764	Process	Neuron migration	IMP	19465910
GO:0003924	Function	GTPase activity	IEA
GO:0005200	Function	Structural constituent of cytoskeleton	IBA
GO:0005200	Function	Structural constituent of cytoskeleton	IEA
GO:0005515	Function	Protein binding	IPI	21078624
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:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	IBA
GO:0005874	Component	Microtubule	IDA	21525035
GO:0005874	Component	Microtubule	IEA
GO:0007017	Process	Microtubule-based process	IEA
GO:0007017	Process	Microtubule-based process	IMP	26732629
GO:0007399	Process	Nervous system development	IEA
GO:0015630	Component	Microtubule cytoskeleton	IDA	23001566, 28013290
GO:0021987	Process	Cerebral cortex development	IEA
GO:0045171	Component	Intercellular bridge	IDA
GO:0045171	Component	Intercellular bridge	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0046982	Function	Protein heterodimerization activity	IDA	23001566, 26732629, 28013290
GO:0050804	Process	Modulation of chemical synaptic transmission	IEA
GO:0072686	Component	Mitotic spindle	IDA
GO:0072686	Component	Mitotic spindle	IEA
GO:0098685	Component	Schaffer collateral - CA1 synapse	IEA
GO:1902669	Process	Positive regulation of axon guidance	IMP	23001566
GO:1990403	Process	Embryonic brain development	IEA

Other IDs

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

Protein

• UniProt ID: Q9BVA1
• Protein name: Tubulin beta-2B chain
• Protein function: Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers (PubMed:23001566, PubMed:26732629, PubMed:28013290). Microtubules grow by the
• PDB: 6E7C, 7ZCW
• Family and domains:

  Pfam

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

• Tissue specificity: TISSUE SPECIFICITY: High expression in brain. {ECO:0000269|PubMed:20191564}.
• Sequence:

  MREIVHIQAGQCGNQIGAKFWEVISDEHGIDPTGSYHGDSDLQLERINVYYNEATGNKYV
  PRAILVDLEPGTMDSVRSGPFGQIFRPDNFVFGQSGAGNNWAKGHYTEGAELVDSVLDVV
  RKESESCDCLQGFQLTHSLGGGTGSGMGTLLISKIREEYPDRIMNTFSVMPSPKVSDTVV
  EPYNATLSVHQLVENTDETYCIDNEALYDICFRTLKLTTPTYGDLNHLVSATMSGVTTCL
  RFPGQLNADLRKLAVNMVPFPRLHFFMPGFAPLTSRGSQQYRALTVPELTQQMFDSKNMM
  AACDPRHGRYLTVAAIFRGRMSMKEVDEQMLNVQNKNSSYFVEWIPNNVKTAVCDIPPRG
  LKMSATFIGNSTAIQELFKRISEQFTAMFRRKAFLHWYTGEGMDEMEFTEAESNMNDLVS
  EYQQYQDATADEQGEFEEEEGEDEA

• Sequence length: 445

Pathways

KEGG:

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

Reactome:

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

Associated diseases

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
Complex cortical dysplasia with other brain malformations 7	Likely pathogenic; Pathogenic	rs2113818913, rs1757271243, rs137853194, rs137853195, rs137853196, rs2113819240, rs2113819019, rs587784498, rs587784502, rs2533617345, rs878853284, rs1468452245, rs2533617289, rs2533617485, rs1403441857, rs1135401758, rs1554126886, rs1554126925, rs397514567, rs397514569, rs1581525728, rs1581526962, rs1581525683, rs201922441, rs398122369, rs1757276859	RCV001353172 RCV002246443 RCV000000454 RCV000000455 RCV000000456 RCV002221843 RCV002226852 RCV000147833 RCV000147845 RCV002287296 RCV000225257 RCV003326042 RCV003883273 RCV004555154 RCV004556127 RCV004595284 RCV000496148 RCV000503116 RCV000503576 RCV000032932 RCV000032934 RCV000853391 RCV000985023 RCV003153244 RCV001072151 RCV000074466 RCV001253089	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital bilateral perisylvian syndrome	Pathogenic	rs2533617345	RCV003445163	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lissencephaly	Likely pathogenic; Pathogenic	rs1554126886, rs398122369, rs1757279879	RCV001291305 RCV001291304 RCV001291307	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tubulinopathy	Likely pathogenic; Pathogenic	rs2113818881, rs2533617634	RCV003985102 RCV003985151	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLAR ATAXIA, INTELLECTUAL DISABILITY, AND DYSEQUILIBRIUM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX CORTICAL DYSPLASIA WITH OTHER BRAIN MALFORMATIONS	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Complex cortical dysplasia with other brain malformations 1	not provided; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL FIBROSIS OF EXTRAOCULAR MUSCLES	—	GenCC, Orphanet GenCC, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSEQUILIBRIUM SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALFORMATIONS OF CORTICAL DEVELOPMENT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERISYLVIAN SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYMICROGYRIA DUE TO TUBB2B MUTATION	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYMICROGYRIA DUE TO TUBULIN BETA 2B CLASS IIB MUTATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TUBB2B-related disorder	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TUBB2B-related tubulinopathy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TUBULINOPATHY-ASSOCIATED DYSGYRIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Agenesis of Corpus Callosum	Corpus callosum agenesis	Pubtator	22591407, 25059107, 30704335	Associate	★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	23495813		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anaplastic carcinoma	Anaplastic Carcinoma	CTD_human_DG	12376462		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Basal Ganglia Diseases	Basal ganglia disease	Pubtator	22591407, 34592644, 40179460	Associate	★☆☆☆☆ Found in Text Mining only
beta Thalassemia	Beta thalassemia	Pubtator	30704335	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	CTD_human_DG	12376462		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	32883362	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Spindle-Cell	Carcinoma	CTD_human_DG	12376462		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	26130693, 34592644	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar hypoplasia	Pubtator	26732629	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Classical Lissencephaly	Lissencephaly	BEFREE	25059107		★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	27594048		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32453965	Associate	★☆☆☆☆ Found in Text Mining only
Congenital anomaly of brain	Brain malformation	BEFREE	22591407		★☆☆☆☆ Found in Text Mining only
Congenital fibrosis of extraocular muscles	Congenital fibrosis of extraocular muscles	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Fibrosis of the Extraocular Muscles	Congenital fibrosis of extraocular muscles	BEFREE	23001566		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Fibrosis of the Extraocular Muscles	Congenital fibrosis of extraocular muscles	ORPHANET_DG	23001566		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
congenital fibrosis of the extraocular muscles	Congenital fibrosis of extraocular muscles	Pubtator	23001566, 33649541	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cortical Dysplasia	Cortical Dysplasia	CTD_human_DG	19465910		★☆☆☆☆ Found in Text Mining only
Cortical Dysplasia	Cortical Dysplasia	BEFREE	24860126		★☆☆☆☆ Found in Text Mining only
Cortical Dysplasia	Cortical Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7	Cortical Dysplasia With Other Brain Malformations	UNIPROT_DG	19465910, 22333901, 23001566, 26732629		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7	Cortical Dysplasia With Other Brain Malformations	GENOMICS_ENGLAND_DG	19465910, 22333901, 23001566		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7	Cortical Dysplasia With Other Brain Malformations	CLINVAR_DG	23001566		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7	Cortical Dysplasia With Other Brain Malformations	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysequilibrium syndrome	Dysequilibrium Syndrome	ORPHANET_DG	28013290		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysequilibrium syndrome	Dysequilibrium Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysgenesis of the basal ganglia	Dysgenesis of the basal ganglia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	33082561	Associate	★☆☆☆☆ Found in Text Mining only
Frontoparietal cortical dysplasia	Frontoparietal cortical dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hemianopsia	Hemianopsia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	24633193	Associate	★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	27594048		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	36189312	Associate	★☆☆☆☆ Found in Text Mining only
Language Development Disorders	Language development disorders	Pubtator	34592644	Associate	★☆☆☆☆ Found in Text Mining only
Lissencephaly	Lissencephaly	Pubtator	22333901, 25059107, 26564436	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lissencephaly	Lissencephaly	BEFREE	23246003		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malformations of Cortical Development	Malformation of cortical development	CTD_human_DG	19465910		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malformations of Cortical Development	Malformation of cortical development	BEFREE	22333901, 24179174, 31481326		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malformations of Cortical Development	Cortical development malformation	Pubtator	22333901, 22591407, 26130693, 30704335, 32570172, 33082561, 33649541, 34592644	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mammary Neoplasms	Mammary Neoplasms	LHGDN	12533264		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	34826184	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	22591407, 24392928		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	22591407, 26732629	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microlissencephaly	Microlissencephaly	BEFREE	25059107, 26732629		★☆☆☆☆ Found in Text Mining only
Motor Skills Disorders	Motor skills disorder	Pubtator	34592644	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	31432180		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	31432180	Associate	★☆☆☆☆ Found in Text Mining only
Neuronal heterotopia	Neuronal Heterotopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oromotor apraxia	Oromotor apraxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	35757478	Associate	★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	BEFREE	22333901		★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pena Shokeir syndrome type 1	Pena-shokeir syndrome	Pubtator	26732629	Associate	★☆☆☆☆ Found in Text Mining only
Pena-Shokeir syndrome type I	Pena Shokeir syndrome	BEFREE	26732629		★☆☆☆☆ Found in Text Mining only
Periventricular Nodular Heterotopia	Periventricular nodular heterotopia	Pubtator	25059107	Associate	★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	BEFREE	19465910, 22333901, 23001566, 23495813, 25059107		★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	Pubtator	22333901, 22591407, 23001566, 25059107, 37486637	Associate	★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Polymicrogyria due to TUBB2B mutation	Polymicrogyria	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	33734457	Associate	★☆☆☆☆ Found in Text Mining only
Schizencephaly	Schizencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	LHGDN	19165527		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	BEFREE	24392928		★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia 29	Spinocerebellar ataxia	Pubtator	30704335	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tubulinopathy-associated dysgyria	Tubulinopathy-Associated Dysgyria	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Undifferentiated carcinoma	Carcinoma	CTD_human_DG	12376462		★☆☆☆☆ Found in Text Mining only
Unilateral polymicrogyria	Polymicrogyria	HPO_DG			★☆☆☆☆ Found in Text Mining only