TUBB3 (tubulin beta 3 class III)

Gene

• Entrez ID: 10381
• Gene name: Tubulin beta 3 class III
• Gene symbol: TUBB3
• Synonyms (NCBI Gene): CDCBM, CDCBM1, CFEOM3, CFEOM3A, FEOM3, TUBB4, beta-4
• Chromosome: 16
• Chromosome location: 16q24.3
• Summary: This gene encodes a class III member of the beta tubulin protein family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. This protein is primarily expressed in neurons and

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs34174718	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs142238093	G>A,T	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, synonymous variant
rs147283850	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant, synonymous variant
rs267607162	C>T	Pathogenic	Missense variant, coding sequence variant
rs267607163	G>A	Pathogenic	Missense variant, coding sequence variant
rs267607164	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs267607165	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs587784505	G>A	Conflicting-interpretations-of-pathogenicity, pathogenic	Missense variant, coding sequence variant
rs747480526	C>T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs864321714	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs864321715	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs864321716	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs864321717	C>T	Pathogenic	Coding sequence variant, missense variant
rs878853256	A>G	Pathogenic	Missense variant, coding sequence variant
rs878853257	G>A	Pathogenic	Missense variant, coding sequence variant
rs878853258	C>T	Pathogenic	Missense variant, coding sequence variant
rs878853279	A>G	Pathogenic	Missense variant, coding sequence variant
rs886039497	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs886041459	C>T	Pathogenic	Missense variant, coding sequence variant
rs1057517908	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1057518593	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1057518686	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1057521924	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs1064794940	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1064795231	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs1085308026	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1131691632	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1131691895	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1555625363	C>T	Likely-pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs1555625571	G>C	Pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT000196	hsa-miR-200c-3p	Western blot	20049172
MIRT000196	hsa-miR-200c-3p	ELISA, Immunoblot, Immunocytochemistry, Luciferase reporter assay, Microarray, qRT-PCR	19435871
MIRT000196	hsa-miR-200c-3p	ELISA, Immunoblot, Immunocytochemistry, Luciferase reporter assay, Microarray, qRT-PCR	19435871
MIRT016480	hsa-miR-193b-3p	Proteomics	21512034
MIRT019563	hsa-miR-340-5p	Sequencing	20371350
MIRT028482	hsa-miR-30a-5p	Proteomics	18668040
MIRT031664	hsa-miR-16-5p	Proteomics	18668040
MIRT049056	hsa-miR-92a-3p	CLASH	23622248
MIRT016480	hsa-miR-193b-3p	CLASH	23622248
MIRT041009	hsa-miR-505-3p	CLASH	23622248
MIRT000196	hsa-miR-200c-3p	qRT-PCR, Western blot	23806972
MIRT000196	hsa-miR-200c-3p	qRT-PCR, Luciferase reporter assay, Western blot	23394580
MIRT000196	hsa-miR-200c-3p	qRT-PCR, Luciferase reporter assay, Western blot	23394580
MIRT000196	hsa-miR-200c-3p	qRT-PCR, Western blot	28003747
MIRT1463321	hsa-miR-1205	CLIP-seq
MIRT1463322	hsa-miR-1233	CLIP-seq
MIRT1463323	hsa-miR-1286	CLIP-seq
MIRT1463324	hsa-miR-200b	CLIP-seq
MIRT1463325	hsa-miR-200c	CLIP-seq
MIRT1463326	hsa-miR-217	CLIP-seq
MIRT1463327	hsa-miR-3141	CLIP-seq
MIRT1463328	hsa-miR-3942-5p	CLIP-seq
MIRT1463329	hsa-miR-429	CLIP-seq
MIRT1463330	hsa-miR-4418	CLIP-seq
MIRT1463331	hsa-miR-4459	CLIP-seq
MIRT1463332	hsa-miR-4477a	CLIP-seq
MIRT1463333	hsa-miR-4703-5p	CLIP-seq
MIRT1463334	hsa-miR-4722-5p	CLIP-seq
MIRT1463335	hsa-miR-4779	CLIP-seq
MIRT1463336	hsa-miR-509-3-5p	CLIP-seq
MIRT1463337	hsa-miR-509-5p	CLIP-seq
MIRT1463322	hsa-miR-1233	CLIP-seq
MIRT1463338	hsa-miR-1254	CLIP-seq
MIRT1463339	hsa-miR-1537	CLIP-seq
MIRT1463340	hsa-miR-1972	CLIP-seq
MIRT1463341	hsa-miR-3116	CLIP-seq
MIRT1463327	hsa-miR-3141	CLIP-seq
MIRT1463342	hsa-miR-3617	CLIP-seq
MIRT1463343	hsa-miR-4254	CLIP-seq
MIRT1463332	hsa-miR-4477a	CLIP-seq
MIRT1463344	hsa-miR-4633-3p	CLIP-seq
MIRT1463345	hsa-miR-4649-5p	CLIP-seq
MIRT1463346	hsa-miR-4650-5p	CLIP-seq
MIRT1463347	hsa-miR-548ad	CLIP-seq
MIRT1463348	hsa-miR-558	CLIP-seq
MIRT1463349	hsa-miR-641	CLIP-seq
MIRT1463321	hsa-miR-1205	CLIP-seq
MIRT1463322	hsa-miR-1233	CLIP-seq
MIRT1463323	hsa-miR-1286	CLIP-seq
MIRT1463324	hsa-miR-200b	CLIP-seq
MIRT1463325	hsa-miR-200c	CLIP-seq
MIRT1463326	hsa-miR-217	CLIP-seq
MIRT1463327	hsa-miR-3141	CLIP-seq
MIRT2360059	hsa-miR-3153	CLIP-seq
MIRT1463329	hsa-miR-429	CLIP-seq
MIRT1463330	hsa-miR-4418	CLIP-seq
MIRT2360060	hsa-miR-4426	CLIP-seq
MIRT1463331	hsa-miR-4459	CLIP-seq
MIRT2360061	hsa-miR-451b	CLIP-seq
MIRT2360062	hsa-miR-4647	CLIP-seq
MIRT1463345	hsa-miR-4649-5p	CLIP-seq
MIRT2360063	hsa-miR-4662b	CLIP-seq
MIRT1463334	hsa-miR-4722-5p	CLIP-seq
MIRT1463335	hsa-miR-4779	CLIP-seq
MIRT1463336	hsa-miR-509-3-5p	CLIP-seq
MIRT1463337	hsa-miR-509-5p	CLIP-seq
MIRT2653306	hsa-miR-1204	CLIP-seq
MIRT1463321	hsa-miR-1205	CLIP-seq
MIRT1463322	hsa-miR-1233	CLIP-seq
MIRT1463323	hsa-miR-1286	CLIP-seq
MIRT1463339	hsa-miR-1537	CLIP-seq
MIRT1463324	hsa-miR-200b	CLIP-seq
MIRT1463325	hsa-miR-200c	CLIP-seq
MIRT1463326	hsa-miR-217	CLIP-seq
MIRT2653307	hsa-miR-2277-3p	CLIP-seq
MIRT2653308	hsa-miR-3120-3p	CLIP-seq
MIRT2653309	hsa-miR-3135	CLIP-seq
MIRT1463327	hsa-miR-3141	CLIP-seq
MIRT2653310	hsa-miR-3150a-3p	CLIP-seq
MIRT2360059	hsa-miR-3153	CLIP-seq
MIRT2653311	hsa-miR-3175	CLIP-seq
MIRT1463328	hsa-miR-3942-5p	CLIP-seq
MIRT1463329	hsa-miR-429	CLIP-seq
MIRT1463330	hsa-miR-4418	CLIP-seq
MIRT2360060	hsa-miR-4426	CLIP-seq
MIRT1463331	hsa-miR-4459	CLIP-seq
MIRT1463332	hsa-miR-4477a	CLIP-seq
MIRT2360061	hsa-miR-451b	CLIP-seq
MIRT2360062	hsa-miR-4647	CLIP-seq
MIRT1463345	hsa-miR-4649-5p	CLIP-seq
MIRT2360063	hsa-miR-4662b	CLIP-seq
MIRT1463333	hsa-miR-4703-5p	CLIP-seq
MIRT1463334	hsa-miR-4722-5p	CLIP-seq
MIRT1463335	hsa-miR-4779	CLIP-seq
MIRT2653312	hsa-miR-4787-5p	CLIP-seq
MIRT2653313	hsa-miR-491-5p	CLIP-seq
MIRT1463336	hsa-miR-509-3-5p	CLIP-seq
MIRT1463337	hsa-miR-509-5p	CLIP-seq
MIRT1463347	hsa-miR-548ad	CLIP-seq
MIRT2653314	hsa-miR-939	CLIP-seq
MIRT2653306	hsa-miR-1204	CLIP-seq
MIRT1463321	hsa-miR-1205	CLIP-seq
MIRT1463322	hsa-miR-1233	CLIP-seq
MIRT1463323	hsa-miR-1286	CLIP-seq
MIRT1463324	hsa-miR-200b	CLIP-seq
MIRT1463325	hsa-miR-200c	CLIP-seq
MIRT1463326	hsa-miR-217	CLIP-seq
MIRT2653309	hsa-miR-3135	CLIP-seq
MIRT1463327	hsa-miR-3141	CLIP-seq
MIRT2653310	hsa-miR-3150a-3p	CLIP-seq
MIRT2360059	hsa-miR-3153	CLIP-seq
MIRT2653311	hsa-miR-3175	CLIP-seq
MIRT1463329	hsa-miR-429	CLIP-seq
MIRT1463330	hsa-miR-4418	CLIP-seq
MIRT2360060	hsa-miR-4426	CLIP-seq
MIRT1463331	hsa-miR-4459	CLIP-seq
MIRT2360061	hsa-miR-451b	CLIP-seq
MIRT2360062	hsa-miR-4647	CLIP-seq
MIRT1463345	hsa-miR-4649-5p	CLIP-seq
MIRT2360063	hsa-miR-4662b	CLIP-seq
MIRT1463334	hsa-miR-4722-5p	CLIP-seq
MIRT1463335	hsa-miR-4779	CLIP-seq
MIRT2653313	hsa-miR-491-5p	CLIP-seq
MIRT1463336	hsa-miR-509-3-5p	CLIP-seq
MIRT1463337	hsa-miR-509-5p	CLIP-seq
MIRT2653314	hsa-miR-939	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
HIF1A	Unknown	21176881
REST	Repression	22684772
REST	Unknown	22159867
SOX11	Unknown	21124928
SOX2	Repression	20739473

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	IDA	34996871
GO:0000278	Process	Mitotic cell cycle	IBA
GO:0003924	Function	GTPase activity	IEA
GO:0005200	Function	Structural constituent of cytoskeleton	IBA
GO:0005200	Function	Structural constituent of cytoskeleton	IDA	34996871
GO:0005200	Function	Structural constituent of cytoskeleton	IEA
GO:0005515	Function	Protein binding	IPI	21044950, 24021646, 24374158, 28483977, 35271311
GO:0005525	Function	GTP binding	IBA
GO:0005525	Function	GTP binding	IDA	34996871
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:0007411	Process	Axon guidance	IBA
GO:0007411	Process	Axon guidance	IEA
GO:0007411	Process	Axon guidance	IMP	20074521
GO:0007411	Process	Axon guidance	ISS
GO:0015630	Component	Microtubule cytoskeleton	IDA	34996871
GO:0015630	Component	Microtubule cytoskeleton	IDA
GO:0015630	Component	Microtubule cytoskeleton	IEA
GO:0030027	Component	Lamellipodium	IEA
GO:0030027	Component	Lamellipodium	ISS
GO:0030175	Component	Filopodium	IEA
GO:0030175	Component	Filopodium	ISS
GO:0030182	Process	Neuron differentiation	IEA
GO:0030424	Component	Axon	IEA
GO:0030424	Component	Axon	ISS
GO:0030425	Component	Dendrite	IEA
GO:0030425	Component	Dendrite	ISS
GO:0030426	Component	Growth cone	IEA
GO:0030426	Component	Growth cone	ISS
GO:0038007	Process	Netrin-activated signaling pathway	IEA
GO:0042277	Function	Peptide binding	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0045171	Component	Intercellular bridge	IDA
GO:0045171	Component	Intercellular bridge	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0071944	Component	Cell periphery	IEA
GO:0072686	Component	Mitotic spindle	IDA
GO:0072686	Component	Mitotic spindle	IEA
GO:1990791	Process	Dorsal root ganglion development	IDA	28483977
GO:1990890	Function	Netrin receptor binding	IEA
GO:1990890	Function	Netrin receptor binding	IPI	28483977

Other IDs

• MIM: 602661
• HGNC: 20772
• e!Ensembl: ENSG00000258947

Protein

• UniProt ID: Q13509
• Protein name: Tubulin beta-3 chain (Tubulin beta-4 chain) (Tubulin beta-III)
• Protein function: Tubulin is the major constituent of microtubules, protein filaments consisting of alpha- and beta-tubulin heterodimers (PubMed:34996871, PubMed:38305685, PubMed:38609661). Microtubules grow by the addition of GTP-tubulin dimers to the microtubul
• PDB: 5IJ0, 5IJ9, 5JCO, 6E7B, 6S8L, 6WSL, 7LXB, 7M18, 7M20, 7PJF, 7SJ7, 7SJ8, 7SJ9, 7SJA, 7Z6S, 8VRJ, 8VRK, 8VT7
• 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: Expression is primarily restricted to central and peripheral nervous system. Greatly increased expression in most cancerous tissues. {ECO:0000269|PubMed:14736079, ECO:0000269|PubMed:20191564}.
• Sequence:

  MREIVHIQAGQCGNQIGAKFWEVISDEHGIDPSGNYVGDSDLQLERISVYYNEASSHKYV
  PRAILVDLEPGTMDSVRSGAFGHLFRPDNFIFGQSGAGNNWAKGHYTEGAELVDSVLDVV
  RKECENCDCLQGFQLTHSLGGGTGSGMGTLLISKVREEYPDRIMNTFSVVPSPKVSDTVV
  EPYNATLSIHQLVENTDETYCIDNEALYDICFRTLKLATPTYGDLNHLVSATMSGVTTSL
  RFPGQLNADLRKLAVNMVPFPRLHFFMPGFAPLTARGSQQYRALTVPELTQQMFDAKNMM
  AACDPRHGRYLTVATVFRGRMSMKEVDEQMLAIQSKNSSYFVEWIPNNVKVAVCDIPPRG
  LKMSSTFIGNSTAIQELFKRISEQFTAMFRRKAFLHWYTGEGMDEMEFTEAESNMNDLVS
  EYQQYQDATAEEEGEMYEDDEEESEAQGPK

• Sequence length: 450

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
Abnormal cerebral morphology	Likely pathogenic; Pathogenic	rs2151092804, rs1057521924	RCV002275459 RCV002275022	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Brain malformation	Likely pathogenic; Pathogenic	rs1131691895	RCV002264946	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Complex cortical dysplasia with other brain malformations 1	Likely pathogenic; Pathogenic	rs2151092282, rs777149755, rs2151092964, rs587784505, rs2544627741, rs2544627057, rs864321715, rs864321717, rs267607164, rs267607165, rs878853279, rs747480526, rs886039497, rs886041459, rs1057517908, rs1057521924, rs878853256, rs878853257, rs878853258, rs1131691895, rs1555625571, rs2030417656, rs2030404834	RCV001775244 RCV001775403 RCV002226820 RCV000147851 RCV005869777 RCV002291127 RCV005603611 RCV001804943 RCV004689411 RCV000194090 RCV000225239 RCV003223515 RCV000023203 RCV005895444 RCV001526950 RCV001843359 RCV000824822 RCV000023202 RCV000023204 RCV000023205 RCV002056825 RCV004819228 RCV001198782 RCV001252385	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital fibrosis of extraocular muscles	Likely pathogenic; Pathogenic	rs1131691895	RCV002264946	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement	Likely pathogenic; Pathogenic	rs587784505, rs864321714, rs864321715, rs864321716, rs864321717, rs267607162, rs267607163, rs267607164, rs267607165, rs747480526, rs1057517908, rs1555625571	RCV000203608 RCV000203610 RCV000203606 RCV000203607 RCV000203611 RCV000007378 RCV000007379 RCV000007380 RCV000007381 RCV000007382 RCV005860056 RCV004783779 RCV004819228	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs587784505	RCV005625323	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lissencephaly	Likely pathogenic	rs2030427823	RCV001291309	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Male infertility with azoospermia or oligozoospermia due to single gene mutation	Likely pathogenic	rs2030421919	RCV003991633	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic ataxia	Likely pathogenic	rs1210717639	RCV001647245	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TUBB3-related disorder	Likely pathogenic; Pathogenic	rs587784505, rs864321715, rs864321716, rs864321717, rs267607165, rs2030416703, rs1057517908	RCV004724928 RCV004554750 RCV004553109 RCV005863045 RCV004547462 RCV004550588 RCV001788210	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
TUBB3-related tubulinopathy	Likely pathogenic; Pathogenic	rs864321715, rs864321716, rs267607164, rs1057521924	RCV003982950 RCV001270742 RCV003982830 RCV004786699	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TUBB3-Releated Disorders	Pathogenic	rs267607165	RCV001267650	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Arrhythmogenic right ventricular dysplasia 8	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BASAL CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ABSENCE OF PART OF BRAIN	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital fibrosis of extraocular muscles type 1	not provided	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Fibrosis of the Extraocular Muscles 1B	not provided	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HYPOPLASIA OF PART OF BRAIN	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORTICAL DYSGENESIS WITH PONTOCEREBELLAR HYPOPLASIA DUE TO TUBB3 MUTATION	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental disorder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDRANENCEPHALY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACROGYRIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Martsolf syndrome 1	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MICROGYRIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TUBULINOPATHY-ASSOCIATED DYSGYRIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-linked hydrocephalus syndrome	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acquired cubitus valgus	Cubitus valgus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	17714470		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	24388706, 29383151		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	29383151, 30546449		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	29022485		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	29869738		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	14736079		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	12946225	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	17406983		★☆☆☆☆ Found in Text Mining only
Basal Ganglia Diseases	Basal ganglia disease	Pubtator	34652576, 40179460	Associate	★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	BEFREE	31635323		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	29491095, 29941343, 31187490		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	BEFREE	20393110, 24612975		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Blepharoptosis	Pubtator	20393110	Associate	★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	39643435	Associate	★☆☆☆☆ Found in Text Mining only
Brain Injuries Traumatic	Brain injuries	Pubtator	27530814	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	29022485		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	29022485	Associate	★☆☆☆☆ Found in Text Mining only
Brain Stem Neoplasms	Brain stem neoplasms	Pubtator	26130693	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	21781528		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	21996087, 25724666, 26252353, 26406408, 27130464, 28075472, 29069726, 31186766, 31497344		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	15923415, 18796406, 20029418, 21390496, 23218766, 31795964, 32848091, 33832110	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	18317222, 22411898, 29383151		★☆☆☆☆ Found in Text Mining only
Carcinoma Large Cell	Large cell carcinoma	Pubtator	34453496	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	29491095, 29941343, 31187490		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	29022485, 29035832		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	26198101	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	29022485	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	37919386	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	26165688, 34659450	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	18317222, 22684772, 23394580, 24661907, 29448203, 30570863		★☆☆☆☆ Found in Text Mining only
Carcinosarcoma	Carcinoma	Pubtator	22209775, 32114514	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Restrictive	Restrictive cardiomyopathy	Pubtator	24612975, 36174041	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	26130693, 34652576	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	29869738		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	12748252		★☆☆☆☆ Found in Text Mining only
Cobblestone Lissencephaly	Cobblestone Lissencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	30583584		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	27188792	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	27771732, 29382549, 31685807		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	19287064, 26553611, 27188792, 27771732, 28949378	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	30583584	Stimulate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	30711942		★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	23321512	Associate	★☆☆☆☆ Found in Text Mining only
Congenital anomaly of brain	Brain malformation	BEFREE	26109418, 29382549		★☆☆☆☆ Found in Text Mining only
Congenital anomaly of face	Facial dysmorphism	BEFREE	26109418		★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital fibrosis of extraocular muscles	Congenital fibrosis of extraocular muscles	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital Fibrosis of the Extraocular Muscles	Congenital fibrosis of extraocular muscles	BEFREE	10393037, 10922204, 12181522, 15223798, 18332320, 20393110, 23378218, 24612975, 25559402, 26639658, 26739025, 31541710		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
congenital fibrosis of the extraocular muscles	Congenital fibrosis of extraocular muscles	Pubtator	12181522, 20393110, 20829227, 25559402, 26639658, 28299356, 31302631, 31541710, 33649541, 33806565, 34652576, 36494820	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Fibrosis of the Extraocular Muscles	Congenital fibrosis of extraocular muscles	GENOMICS_ENGLAND_DG	20074521		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Fibrosis of the Extraocular Muscles	Congenital fibrosis of extraocular muscles	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital microcephaly	Congenital Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Contracture	Contracture	Pubtator	34652576	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	29022485		★☆☆☆☆ Found in Text Mining only
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	Cortical Dysgenesis With Pontocerebellar Hypoplasia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cortical Dysplasia	Cortical Dysplasia	BEFREE	26739025		★☆☆☆☆ Found in Text Mining only
Cortical Dysplasia	Cortical Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1	Cortical Dysplasia With Other Brain Malformations	UNIPROT_DG	20829227		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1	Cortical Dysplasia With Other Brain Malformations	ORPHANET_DG	20829227		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1	Cortical Dysplasia With Other Brain Malformations	GENOMICS_ENGLAND_DG	20829227, 25008804		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1	Cortical Dysplasia With Other Brain Malformations	CLINVAR_DG	29706646		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1	Cortical Dysplasia With Other Brain Malformations	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutaneous Melanoma	Melanoma	BEFREE	26426765, 28024114		★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	33389762	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	23378218, 26639658, 34863918, 39643435	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Down Syndrome	Down Syndrome	BEFREE	15068247		★☆☆☆☆ Found in Text Mining only
Duane Retraction Syndrome	Duane retraction syndrome	Pubtator	36494820	Associate	★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysautonomia	Dysautonomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysgenesis of the hippocampus	Dysgenesis of the hippocampus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	23595291		★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine system disease	Pubtator	25559402	Associate	★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	BEFREE	29487694		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	28378416		★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	28378416		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	18317222		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	27838937, 30546449		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	27838937, 30546449		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	29022485	Associate	★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ewings sarcoma-primitive neuroectodermal tumor (PNET)	Ewing sarcoma	BEFREE	27781423		★☆☆☆☆ Found in Text Mining only
Exotropia	Exotropia	HPO_DG			★☆☆☆☆ Found in Text Mining only
External Ophthalmoplegia	External Ophthalmoplegia	BEFREE	29289389		★☆☆☆☆ Found in Text Mining only
Extraskeletal Myxoid Chondrosarcoma	Extraskeletal Myxoid Chondrosarcoma	BEFREE	12748252		★☆☆☆☆ Found in Text Mining only
Facial Dysmorphism with Multiple Malformations	Facial dysmorphism syndrome	Pubtator	34652576	Associate	★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	BEFREE	29289389		★☆☆☆☆ Found in Text Mining only
Facial Paralysis	Facial nerve disorder	Pubtator	34652576	Associate	★☆☆☆☆ Found in Text Mining only
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2	Fibrosis Of Extraocular Muscles	BEFREE	10844060		★☆☆☆☆ Found in Text Mining only
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT	Fibrosis Of Extraocular Muscles	CLINVAR_DG	20074521		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT	Fibrosis Of Extraocular Muscles	UNIPROT_DG	20074521		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT	Fibrosis Of Extraocular Muscles	GENOMICS_ENGLAND_DG	20829227, 27428177		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT	Fibrosis Of Extraocular Muscles	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Focal seizures, afebril	Focal Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	12946225, 25244496, 27579614	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	17406983, 20162618, 25244496, 30474756, 31491891		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	17406983, 20162618, 25244496, 30474756, 31491891		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	14736079		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	26109418, 26739025		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	34863918	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Disorders	Headache	Pubtator	34652576	Associate	★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	BEFREE	29187032		★☆☆☆☆ Found in Text Mining only
Hydrocephalus, Normal Pressure	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	Pubtator	34863918	Associate	★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	24232867	Associate	★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	20587520		★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	Pubtator	23378218, 25559402, 34652576	Associate	★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	BEFREE	25559402		★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of the olfactory bulb	Hypoplasia of the olfactory bulb	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of the optic nerve	Hypoplasia Of The Optic Nerve	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	23364970, 25244496	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	24005572	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	27586205	Associate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	28392899		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	23378218		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	23378218, 25559402, 26639658, 30272120, 34652576	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Kallmann Syndrome	Kallmann Syndrome	BEFREE	23378218, 25559402		★☆☆☆☆ Found in Text Mining only
Kallmann Syndrome	Kallmann syndrome	Pubtator	23378218, 25559402, 31628846, 34652576	Associate	★☆☆☆☆ Found in Text Mining only
Laryngeal dystonia	Laryngeal dystonia	BEFREE	23595291		★☆☆☆☆ Found in Text Mining only
LATERAL MENINGOCELE SYNDROME	Lateral Meningocele Syndrome	BEFREE	31635323		★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma	Leiomyosarcoma	Pubtator	30034996	Associate	★☆☆☆☆ Found in Text Mining only
LIMB-MAMMARY SYNDROME	Limb-Mammary Syndrome	BEFREE	31635323		★☆☆☆☆ Found in Text Mining only
Lissencephaly	Lissencephaly	Pubtator	26564436	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lissencephaly	Lissencephaly	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Little`s Disease	Spastic diplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	29849941		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	17289895		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	22358390		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	29022485	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	25921119, 33832110	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	24232867	Associate	★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macular dystrophy, corneal type 1	Macular corneal dystrophy	BEFREE	20829227, 24179174, 24392928, 26639658, 26739025		★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Malformation of cortical development	BEFREE	20829227, 24392928, 26639658, 31481326		★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Cortical development malformation	Pubtator	20829227, 26130693, 26639658, 28299356, 32570172, 33649541, 34652576	Associate	★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development Group II	Cortical development malformation	Pubtator	20829227	Associate	★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	BEFREE	20829227		★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	CLINVAR_DG	29706646		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	21781528		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21996087, 25724666, 26252353, 26406408, 27130464, 28075472, 29069726, 31186766, 31497344		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	27838937, 30546449		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	30546449		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	29022485, 29035832		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of oropharynx	Malignant Neoplasm Of Oropharynx	BEFREE	25380690		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	18317222, 18497984, 22684772, 23394580, 24661907, 29448203, 30570863		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	CTD_human_DG	18497984		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	27889644, 30674344		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	21045157, 24378408, 31412591		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	24722794, 30546449		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	28025079, 29491095, 29941343, 31187490		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	14736079, 18497984, 21045157, 26406408, 28025079, 29022485, 29383151, 29491095, 30546449, 30583584, 30711942		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	30583584		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	21781528		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	17909044		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	21781528		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	21781528		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	21124928		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	1441916, 29869738		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	29869738	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	18086570, 19122647, 29022485	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	26426765, 29022485		★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	28024114	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	34863918	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mobius Syndrome	Mobius syndrome	Pubtator	23378218, 28299356	Associate	★☆☆☆☆ Found in Text Mining only
Mobius Syndrome	Mobius Syndrome	BEFREE	24612975, 29289389		★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	20074521, 20829227, 23378218, 23503589, 24257358, 24612975, 25059107, 25482575, 25559402, 26639658		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	29747653	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11939586, 14736079, 18395930, 18497984, 18977553, 21045157, 21390496, 21996087, 22358390, 22411898, 22684772, 23074172, 23259428, 23803067, 23806972, 24220933, 24762590, 24994038, 26252353, 26406408, 28025079, 28029447, 28075472, 28640948, 28789453, 29491095, 29869738, 30054102, 30546449, 30643929		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	31226147		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	15367708		★☆☆☆☆ Found in Text Mining only
Neuroectodermal Tumor, Primitive	Neuroectodermal Tumors	BEFREE	27781423		★☆☆☆☆ Found in Text Mining only
Neurofibrosarcoma	Neurofibrosarcoma	Pubtator	18796406	Associate	★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	16061864, 17909044, 18395930, 18977553, 19123003, 20047843, 21453275, 21996087, 22306125, 22358390, 22411898, 22439756, 23259428, 23803067, 24135250, 24220933, 24705847, 24762590, 24854656, 24935362, 24994038, 25107571, 25921119, 25964544, 28476819, 28521419, 31740781		★☆☆☆☆ Found in Text Mining only
Nonprogressive restrictive external ophthalmoplegia	Restrictive External Opthalmoplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus Pathologic	Nystagmus	Pubtator	26639658	Associate	★☆☆☆☆ Found in Text Mining only
Oculomotor apraxia	Oculomotor apraxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oculovestibuloauditory syndrome	Oculovestibuloauditory Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
oligodendroglioma	Oligodendroglioma	BEFREE	11939586		★☆☆☆☆ Found in Text Mining only
Ophthalmoplegia	Ophthalmoplegia	Pubtator	20393110, 28299356, 34652576	Associate	★☆☆☆☆ Found in Text Mining only
Oropharyngeal Carcinoma	Oropharyngeal Carcinoma	BEFREE	25380690		★☆☆☆☆ Found in Text Mining only
Oropharyngeal Neoplasms	Oropharyngeal neoplasm	Pubtator	25380690	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	37291167	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	29289389		★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	22209775	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	15671559, 16675570, 18497984		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	18317222, 22684772, 23394580, 24661907, 29448203, 30570863		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	CTD_human_DG	18497984		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	10362110, 22684772, 23394580, 24005572, 26198101, 30570863, 32951896, 37718345	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	27889644, 30674344		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	29339176		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	29022485	Stimulate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	34192548	Associate	★☆☆☆☆ Found in Text Mining only
Partial agenesis of corpus callosum	Partial Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral axonal neuropathy	Peripheral axonal neuropathy	BEFREE	25482575		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	23378218, 34652576, 39643435	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	25847151		★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	25847151		★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	BEFREE	15068247		★☆☆☆☆ Found in Text Mining only
Plagiocephaly	Plagiocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polyneuropathies	Polyneuropathy	Pubtator	23378218, 33389762	Associate	★☆☆☆☆ Found in Text Mining only
Pontocerebellar Hypoplasia	Pontocerebellar hypoplasia	Pubtator	20829227	Associate	★☆☆☆☆ Found in Text Mining only
Primary peritoneal carcinoma	Peritoneal Carcinoma	BEFREE	31653009		★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	BEFREE	29861105		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	21045157, 24378408, 31412591		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	21045157		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	31412591	Associate	★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	BEFREE	24612975		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	29022485		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	31635323		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	34294833	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	34667143	Associate	★☆☆☆☆ Found in Text Mining only
Sensorineural hearing loss, bilateral	Sensorineural hearing loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Social Communication Disorder	Social Communication Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spastic Ataxia	Spastic Ataxia	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic Quadriplegia	Spastic Quadriplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	11735040		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	30546449, 30643929		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	19468031, 35945754	Associate	★☆☆☆☆ Found in Text Mining only
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	24722794, 30546449		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	23364970, 24053422, 28056823	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	BEFREE	17511870, 31541710		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	Pubtator	23378218, 34863918, 39643435	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thymic Carcinoma	Thymic Carcinoma	BEFREE	28521419, 28789453		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	35277656	Associate	★☆☆☆☆ Found in Text Mining only
Tooth Abnormalities	Tooth abnormalities	Pubtator	20829227	Associate	★☆☆☆☆ Found in Text Mining only
Tubulinopathy-associated dysgyria	Tubulinopathy-Associated Dysgyria	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	29941343	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	36973995	Associate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	18385798	Associate	★☆☆☆☆ Found in Text Mining only
Vocal Cord Paralysis	Vocal Cord Paralysis	BEFREE	23378218		★☆☆☆☆ Found in Text Mining only
Well Differentiated Oligodendroglioma	Oligodendroglioma	BEFREE	11939586		★☆☆☆☆ Found in Text Mining only