CSTB (cystatin B)

Gene

• Entrez ID: 1476
• Gene name: Cystatin B
• Gene symbol: CSTB
• Synonyms (NCBI Gene): CPI-B, CST6, EPM1, EPM1A, PME, STFB, ULD
• Chromosome: 21
• Chromosome location: 21q22.3
• Summary: The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs11553836	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs74315442	G>A	Pathogenic	Coding sequence variant, stop gained
rs74315443	C>A,G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121909346	T>G	Pathogenic	Missense variant, coding sequence variant
rs143153487	C>T	Benign-likely-benign, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs147484110	C>G	Pathogenic, likely-pathogenic	Splice acceptor variant
rs312262707	GAGGCCCACACTCTACCT>-	Pathogenic	Intron variant, coding sequence variant, splice donor variant
rs312262708	C>T	Pathogenic	Missense variant, coding sequence variant
rs386833439	G>T	Pathogenic-likely-pathogenic	Stop gained, coding sequence variant
rs386833440	C>T	Pathogenic-likely-pathogenic	Coding sequence variant, synonymous variant
rs386833441	T>C	Pathogenic-likely-pathogenic	Splice acceptor variant
rs386833443	C>T	Pathogenic-likely-pathogenic	Coding sequence variant, synonymous variant
rs545986367	G>A	Pathogenic	Stop gained, coding sequence variant
rs796943858	GA>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs864309482	CTCCTGAGGCCCACACTCTA>TT	Pathogenic	Splice donor variant, intron variant
rs1044894207	->AT	Uncertain-significance, likely-pathogenic	Frameshift variant, initiator codon variant
rs1555888493	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1569006250	G>A	Pathogenic	Stop gained, coding sequence variant
rs1601855887	->CGCA	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT038631	hsa-miR-125b-2-3p	CLASH	23622248
MIRT038056	hsa-miR-423-5p	CLASH	23622248
MIRT037284	hsa-miR-877-5p	CLASH	23622248
MIRT913400	hsa-miR-1252	CLIP-seq
MIRT913401	hsa-miR-149	CLIP-seq
MIRT913402	hsa-miR-21	CLIP-seq
MIRT913403	hsa-miR-223	CLIP-seq
MIRT913404	hsa-miR-298	CLIP-seq
MIRT913405	hsa-miR-3064-5p	CLIP-seq
MIRT913406	hsa-miR-3156-5p	CLIP-seq
MIRT913407	hsa-miR-3158-5p	CLIP-seq
MIRT913408	hsa-miR-3179	CLIP-seq
MIRT913409	hsa-miR-3182	CLIP-seq
MIRT913410	hsa-miR-3529	CLIP-seq
MIRT913411	hsa-miR-3605-5p	CLIP-seq
MIRT913412	hsa-miR-379	CLIP-seq
MIRT913413	hsa-miR-4451	CLIP-seq
MIRT913414	hsa-miR-4457	CLIP-seq
MIRT913415	hsa-miR-4476	CLIP-seq
MIRT913416	hsa-miR-4490	CLIP-seq
MIRT913417	hsa-miR-4512	CLIP-seq
MIRT913418	hsa-miR-4533	CLIP-seq
MIRT913419	hsa-miR-4650-3p	CLIP-seq
MIRT913420	hsa-miR-4661-3p	CLIP-seq
MIRT913421	hsa-miR-4697-3p	CLIP-seq
MIRT913422	hsa-miR-4722-3p	CLIP-seq
MIRT913423	hsa-miR-4747-5p	CLIP-seq
MIRT913424	hsa-miR-4766-5p	CLIP-seq
MIRT913425	hsa-miR-4774-5p	CLIP-seq
MIRT913426	hsa-miR-4778-5p	CLIP-seq
MIRT913427	hsa-miR-4794	CLIP-seq
MIRT913428	hsa-miR-483-5p	CLIP-seq
MIRT913429	hsa-miR-513b	CLIP-seq
MIRT913430	hsa-miR-519a	CLIP-seq
MIRT913431	hsa-miR-519b-3p	CLIP-seq
MIRT913432	hsa-miR-519c-3p	CLIP-seq
MIRT913433	hsa-miR-539	CLIP-seq
MIRT913434	hsa-miR-548a-5p	CLIP-seq
MIRT913435	hsa-miR-548ab	CLIP-seq
MIRT913436	hsa-miR-548ak	CLIP-seq
MIRT913437	hsa-miR-548b-5p	CLIP-seq
MIRT913438	hsa-miR-548c-5p	CLIP-seq
MIRT913439	hsa-miR-548d-5p	CLIP-seq
MIRT913440	hsa-miR-548h	CLIP-seq
MIRT913441	hsa-miR-548i	CLIP-seq
MIRT913442	hsa-miR-548j	CLIP-seq
MIRT913443	hsa-miR-548w	CLIP-seq
MIRT913444	hsa-miR-548y	CLIP-seq
MIRT913445	hsa-miR-559	CLIP-seq
MIRT913446	hsa-miR-590-5p	CLIP-seq
MIRT913447	hsa-miR-622	CLIP-seq
MIRT913448	hsa-miR-646	CLIP-seq
MIRT913449	hsa-miR-651	CLIP-seq
MIRT1970870	hsa-miR-127-5p	CLIP-seq
MIRT1970871	hsa-miR-143	CLIP-seq
MIRT1970872	hsa-miR-1913	CLIP-seq
MIRT913402	hsa-miR-21	CLIP-seq
MIRT913403	hsa-miR-223	CLIP-seq
MIRT913404	hsa-miR-298	CLIP-seq
MIRT1970873	hsa-miR-3127-3p	CLIP-seq
MIRT913407	hsa-miR-3158-5p	CLIP-seq
MIRT1970874	hsa-miR-324-3p	CLIP-seq
MIRT913410	hsa-miR-3529	CLIP-seq
MIRT913411	hsa-miR-3605-5p	CLIP-seq
MIRT913412	hsa-miR-379	CLIP-seq
MIRT1970875	hsa-miR-3940-3p	CLIP-seq
MIRT913413	hsa-miR-4451	CLIP-seq
MIRT913414	hsa-miR-4457	CLIP-seq
MIRT913416	hsa-miR-4490	CLIP-seq
MIRT913419	hsa-miR-4650-3p	CLIP-seq
MIRT913420	hsa-miR-4661-3p	CLIP-seq
MIRT1970876	hsa-miR-4688	CLIP-seq
MIRT913421	hsa-miR-4697-3p	CLIP-seq
MIRT913422	hsa-miR-4722-3p	CLIP-seq
MIRT1970877	hsa-miR-4749-3p	CLIP-seq
MIRT1970878	hsa-miR-4770	CLIP-seq
MIRT913425	hsa-miR-4774-5p	CLIP-seq
MIRT913428	hsa-miR-483-5p	CLIP-seq
MIRT913429	hsa-miR-513b	CLIP-seq
MIRT913430	hsa-miR-519a	CLIP-seq
MIRT913431	hsa-miR-519b-3p	CLIP-seq
MIRT913432	hsa-miR-519c-3p	CLIP-seq
MIRT913446	hsa-miR-590-5p	CLIP-seq
MIRT913447	hsa-miR-622	CLIP-seq
MIRT913448	hsa-miR-646	CLIP-seq
MIRT913449	hsa-miR-651	CLIP-seq
MIRT913400	hsa-miR-1252	CLIP-seq
MIRT1970870	hsa-miR-127-5p	CLIP-seq
MIRT1970871	hsa-miR-143	CLIP-seq
MIRT913401	hsa-miR-149	CLIP-seq
MIRT1970872	hsa-miR-1913	CLIP-seq
MIRT913402	hsa-miR-21	CLIP-seq
MIRT913403	hsa-miR-223	CLIP-seq
MIRT913404	hsa-miR-298	CLIP-seq
MIRT913405	hsa-miR-3064-5p	CLIP-seq
MIRT1970873	hsa-miR-3127-3p	CLIP-seq
MIRT913406	hsa-miR-3156-5p	CLIP-seq
MIRT913407	hsa-miR-3158-5p	CLIP-seq
MIRT913408	hsa-miR-3179	CLIP-seq
MIRT913409	hsa-miR-3182	CLIP-seq
MIRT1970874	hsa-miR-324-3p	CLIP-seq
MIRT913410	hsa-miR-3529	CLIP-seq
MIRT913411	hsa-miR-3605-5p	CLIP-seq
MIRT913412	hsa-miR-379	CLIP-seq
MIRT1970875	hsa-miR-3940-3p	CLIP-seq
MIRT913413	hsa-miR-4451	CLIP-seq
MIRT913414	hsa-miR-4457	CLIP-seq
MIRT913416	hsa-miR-4490	CLIP-seq
MIRT913418	hsa-miR-4533	CLIP-seq
MIRT913419	hsa-miR-4650-3p	CLIP-seq
MIRT913420	hsa-miR-4661-3p	CLIP-seq
MIRT1970876	hsa-miR-4688	CLIP-seq
MIRT913421	hsa-miR-4697-3p	CLIP-seq
MIRT913422	hsa-miR-4722-3p	CLIP-seq
MIRT913423	hsa-miR-4747-5p	CLIP-seq
MIRT1970877	hsa-miR-4749-3p	CLIP-seq
MIRT1970878	hsa-miR-4770	CLIP-seq
MIRT913425	hsa-miR-4774-5p	CLIP-seq
MIRT913427	hsa-miR-4794	CLIP-seq
MIRT913428	hsa-miR-483-5p	CLIP-seq
MIRT913429	hsa-miR-513b	CLIP-seq
MIRT913430	hsa-miR-519a	CLIP-seq
MIRT913431	hsa-miR-519b-3p	CLIP-seq
MIRT913432	hsa-miR-519c-3p	CLIP-seq
MIRT913446	hsa-miR-590-5p	CLIP-seq
MIRT913447	hsa-miR-622	CLIP-seq
MIRT913448	hsa-miR-646	CLIP-seq
MIRT913449	hsa-miR-651	CLIP-seq
MIRT913401	hsa-miR-149	CLIP-seq
MIRT913403	hsa-miR-223	CLIP-seq
MIRT913405	hsa-miR-3064-5p	CLIP-seq
MIRT913406	hsa-miR-3156-5p	CLIP-seq
MIRT913408	hsa-miR-3179	CLIP-seq
MIRT913409	hsa-miR-3182	CLIP-seq
MIRT913410	hsa-miR-3529	CLIP-seq
MIRT913411	hsa-miR-3605-5p	CLIP-seq
MIRT913412	hsa-miR-379	CLIP-seq
MIRT2386547	hsa-miR-4312	CLIP-seq
MIRT913413	hsa-miR-4451	CLIP-seq
MIRT913416	hsa-miR-4490	CLIP-seq
MIRT913417	hsa-miR-4512	CLIP-seq
MIRT913419	hsa-miR-4650-3p	CLIP-seq
MIRT913421	hsa-miR-4697-3p	CLIP-seq
MIRT913423	hsa-miR-4747-5p	CLIP-seq
MIRT913424	hsa-miR-4766-5p	CLIP-seq
MIRT913425	hsa-miR-4774-5p	CLIP-seq
MIRT913426	hsa-miR-4778-5p	CLIP-seq
MIRT913427	hsa-miR-4794	CLIP-seq
MIRT913430	hsa-miR-519a	CLIP-seq
MIRT913431	hsa-miR-519b-3p	CLIP-seq
MIRT913432	hsa-miR-519c-3p	CLIP-seq
MIRT913434	hsa-miR-548a-5p	CLIP-seq
MIRT913435	hsa-miR-548ab	CLIP-seq
MIRT913436	hsa-miR-548ak	CLIP-seq
MIRT913437	hsa-miR-548b-5p	CLIP-seq
MIRT913438	hsa-miR-548c-5p	CLIP-seq
MIRT913439	hsa-miR-548d-5p	CLIP-seq
MIRT913440	hsa-miR-548h	CLIP-seq
MIRT913441	hsa-miR-548i	CLIP-seq
MIRT913442	hsa-miR-548j	CLIP-seq
MIRT913443	hsa-miR-548w	CLIP-seq
MIRT913444	hsa-miR-548y	CLIP-seq
MIRT913445	hsa-miR-559	CLIP-seq
MIRT913447	hsa-miR-622	CLIP-seq
MIRT913449	hsa-miR-651	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002020	Function	Protease binding	IDA	11514663
GO:0002020	Function	Protease binding	IEA
GO:0002020	Function	Protease binding	IPI	6203523
GO:0003723	Function	RNA binding	HDA	22658674
GO:0004866	Function	Endopeptidase inhibitor activity	IDA	3053245
GO:0004866	Function	Endopeptidase inhibitor activity	IEA
GO:0004866	Function	Endopeptidase inhibitor activity	TAS	3053245
GO:0004869	Function	Cysteine-type endopeptidase inhibitor activity	IBA
GO:0004869	Function	Cysteine-type endopeptidase inhibitor activity	IDA	3488317, 6203523
GO:0004869	Function	Cysteine-type endopeptidase inhibitor activity	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	HDA	23580065
GO:0005615	Component	Extracellular space	IDA	3488317
GO:0005634	Component	Nucleus	IDA	11139332
GO:0005634	Component	Nucleus	IEA
GO:0005730	Component	Nucleolus	IDA
GO:0005737	Component	Cytoplasm	IDA	11139332
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0008344	Process	Adult locomotory behavior	IEA
GO:0030414	Function	Peptidase inhibitor activity	IEA
GO:0031012	Component	Extracellular matrix	HDA	25037231, 28675934
GO:0034774	Component	Secretory granule lumen	TAS
GO:0045861	Process	Negative regulation of proteolysis	IDA	3488317, 6203523
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708, 23533145
GO:1904724	Component	Tertiary granule lumen	TAS
GO:1904813	Component	Ficolin-1-rich granule lumen	TAS

Other IDs

• MIM: 601145
• HGNC: 2482
• e!Ensembl: ENSG00000160213

Protein

• UniProt ID: P04080
• Protein name: Cystatin-B (CPI-B) (Liver thiol proteinase inhibitor) (Stefin-B)
• Protein function: This is an intracellular thiol proteinase inhibitor. Tightly binding reversible inhibitor of cathepsins L, H and B.
• PDB: 1STF, 2OCT, 4N6V
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00031	Cystatin	4 → 92	Cystatin domain	Domain

• Sequence:

  MMCGAPSATQPATAETQHIADQVRSQLEEKENKKFPVFKAVSFKSQVVAGTNYFIKVHVG
  DEDFVHLRVFQSLPHENKPLTLSNYQTNKAKHDELTYF

• Sequence length: 98

Pathways

Reactome:

Neutrophil degranulation

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
Cerebral dysmyelination	Pathogenic	rs147484110	RCV001254919	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Chorea	Pathogenic	rs147484110	RCV001003638	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dyskinesia	Pathogenic	rs147484110	RCV001003638	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Encephalopathy	Pathogenic	rs147484110	RCV001254919	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glioma susceptibility 1	Likely pathogenic	rs386833440	RCV005890357	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hepatocellular carcinoma	Pathogenic	rs147484110	RCV005887392	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Pathogenic	rs147484110	RCV001254919	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Progressive myoclonic epilepsy	Pathogenic; Likely pathogenic	rs1257171692, rs545986367, rs2517171405, rs147484110, rs74315442, rs1569006250, rs1601855887, rs796943858	RCV001939679 RCV000811370 RCV002571535 RCV000638304 RCV001387303 RCV000697295 RCV000816149 RCV000638318	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Self-limited epilepsy with centrotemporal spikes	Pathogenic	rs74315442	RCV000656065	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unverricht-Lundborg syndrome	Likely pathogenic; Pathogenic	rs545986367, rs147484110, rs74315442, rs74315443, rs121909346, rs1569006250, rs386833439, rs386833440, rs386833441, rs796943858, rs386833443	RCV000202565 RCV000008903 RCV000008904 RCV000008905 RCV000008908 RCV000655934 RCV001784328 RCV000049366 RCV000049367 RCV000049368 RCV000049369 RCV000049370	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTOSOMAL RECESSIVE HYPOHIDROTIC ECTODERMAL DYSPLASIA	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CSTB-related disorder	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	ClinGen	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSKINETIC SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY WITH SUPPRESSION BURSTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL RECESSIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, ROLANDIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL SQUAMOUS CELL CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENINGIOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROGRESSIVE MYOCLONIC EPILEPSY TYPE 1	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	24398667		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	BEFREE	28596234		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	19382231		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Familial	Amyotrophic lateral sclerosis	BEFREE	24234043		★☆☆☆☆ Found in Text Mining only
Angioblastic Meningioma	Angioblastic Meningioma	CTD_human_DG	19747051		★☆☆☆☆ Found in Text Mining only
Angiomatous Meningioma	Angiomatous Meningioma	CTD_human_DG	19747051		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	30262158, 31466471		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	12655603		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	33675537	Associate	★☆☆☆☆ Found in Text Mining only
Autosomal recessive hypohidrotic ectodermal dysplasia	Hypohidrotic ectodermal dysplasia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Benign Meningioma	Benign Meningioma	BEFREE	15832773		★☆☆☆☆ Found in Text Mining only
Benign Meningioma	Benign Meningioma	CTD_human_DG	19747051		★☆☆☆☆ Found in Text Mining only
Blepharitis	Blepharitis	Pubtator	30425301	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	35881476	Inhibit	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	18607344		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	LHGDN	18607344		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	18607344	Inhibit	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	14676833, 15466187, 15792117, 16912163, 17043665, 17099723, 19551853, 20004178, 21092257, 22688893, 23006792, 23088560, 24742492, 8995380		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	17043665		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	17043665, 17540367, 19074894, 8995380	Inhibit	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	18221536, 21092257, 21283676, 23088560, 24297604, 24742492	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	20004178		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	31115549, 36102438	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	39566392	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma in situ of uterine cervix	Cervical Intraepithelial Neoplasia	BEFREE	27090639		★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	21092257	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	29037838		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	24452274	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	18754876	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	20154727, 24633192	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	24452274	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	25633807, 31180557		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	15466187		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	29149174		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	Pubtator	33362776	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	9529356	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Convexity Meningioma	Cerebral Convexity Meningioma	CTD_human_DG	19747051		★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	Pubtator	28378817	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	30262158		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	18281540		★☆☆☆☆ Found in Text Mining only
Clear Cell Meningioma	Meningioma	CTD_human_DG	19747051		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	23205931	Associate	★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	36398398	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	29037838		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29037838		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	29037838		★☆☆☆☆ Found in Text Mining only
Congenital hypotrichia	Congenital Hypotrichia	BEFREE	30425301		★☆☆☆☆ Found in Text Mining only
Congenital ichthyosis	Congenital Ichthyosis	BEFREE	23163660		★☆☆☆☆ Found in Text Mining only
Congenital Nonbullous Ichthyosiform Erythroderma	Congenital Nonbullous Ichthyosiform Erythroderma	BEFREE	23163660		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	31090256		★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	19170735	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative Diseases, Central Nervous System	Degenerative Diseases, Central Nervous System	BEFREE	12393805		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	28378817	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	19438477		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	12839564, 19438477		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	35271662	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	12624744, 22140471		★☆☆☆☆ Found in Text Mining only
Dry Eye Syndromes	Dry eye syndrome	Pubtator	30425301	Associate	★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	12058102, 17158032, 18325013, 21757863, 22154554, 23205931, 26843564, 28378817		★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia Anhidrotic with Immunodeficiency Osteopetrosis and Lymphedema	Anhidrotic ectodermal dysplasia with immunodeficiency, osteopetrosis, and lymphedema	Pubtator	35881476	Inhibit	★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	19438477		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	Pubtator	30425301	Associate	★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	Pubtator	26092112	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	31692912	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsies Myoclonic	Myoclonic epilepsy	Pubtator	16155205, 21075014, 8651302, 9342192	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	16155205, 16930946, 17003839, 19087113, 22140471, 28149289		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	26802095, 28378817	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy Absence	Absence epilepsy	Pubtator	23205931	Associate	★☆☆☆☆ Found in Text Mining only
EPILEPSY, PYRIDOXINE-DEPENDENT	Epilepsy	BEFREE	28747210		★☆☆☆☆ Found in Text Mining only
Epilepsy, Rolandic	Epilepsy	CLINVAR_DG	29358611		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	33798445	Associate	★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	25633807		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	9583733		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	21517111	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial benign neonatal epilepsy	Benign Epilepsy	BEFREE	7647781		★☆☆☆☆ Found in Text Mining only
Fibroadenoma	Fibroadenoma	BEFREE	19551853		★☆☆☆☆ Found in Text Mining only
Fibrous Meningioma	Fibrous Meningioma	CTD_human_DG	19747051		★☆☆☆☆ Found in Text Mining only
Folic Acid Deficiency	Folic Acid Deficiency	BEFREE	31477754		★☆☆☆☆ Found in Text Mining only
Giant Cell Glioblastoma	Giant Cell Glioblastoma	CTD_human_DG	22287159		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	CTD_human_DG	22287159		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	Pubtator	25356585	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma Multiforme	Glioblastoma	BEFREE	12655603		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	CTD_human_DG	22287159		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	16885346, 18607344		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	18607344	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Harlequin Fetus	Harlequin Ichthyosis	BEFREE	12839564, 15044380		★☆☆☆☆ Found in Text Mining only
Hemangioblastic Meningioma	Hemangioblastic Meningioma	CTD_human_DG	19747051		★☆☆☆☆ Found in Text Mining only
Hemangiopericytic Meningioma	Hemangiopericytic Meningioma	CTD_human_DG	19747051		★☆☆☆☆ Found in Text Mining only
Hepatitis C Chronic	Hepatitis c	Pubtator	36102438	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	17043665, 17540367	Associate	★☆☆☆☆ Found in Text Mining only
Hypohidrosis	Hypohidrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	BEFREE	30425301		★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	Pubtator	30425301	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	16080536	Inhibit	★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	BEFREE	23163660		★☆☆☆☆ Found in Text Mining only
Ichthyosiform Erythroderma, Congenital	Ichthyosis Congenita	BEFREE	23163660		★☆☆☆☆ Found in Text Mining only
Idiopathic generalized epilepsy	Epilepsy	BEFREE	8208346		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	37858084	Associate	★☆☆☆☆ Found in Text Mining only
Infantile Severe Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	19087113		★☆☆☆☆ Found in Text Mining only
Inflammatory Breast Carcinoma	Breast Cancer	BEFREE	21092257		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	27604308		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intracranial Meningioma	Intracranial Meningioma	CTD_human_DG	19747051		★☆☆☆☆ Found in Text Mining only
Intraorbital Meningioma	Intraorbital Meningioma	CTD_human_DG	19747051		★☆☆☆☆ Found in Text Mining only
Intraventricular Meningioma	Intraventricular Meningioma	CTD_human_DG	19747051		★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	15466187		★☆☆☆☆ Found in Text Mining only
Juvenile Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	10691109, 25752200, 8208346		★☆☆☆☆ Found in Text Mining only
Juvenile Neuronal Ceroid Lipofuscinosis	Neuronal Ceroid Lipofuscinosis	BEFREE	11579433		★☆☆☆☆ Found in Text Mining only
Lafora Disease	Lafora Disease	BEFREE	11579433, 19087113, 7485240		★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	17716379	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	18281540, 26753874, 28766361, 31115549		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	18281540		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis, Alcoholic	Alcoholic Liver Cirrhosis	BEFREE	28766361		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	29037838		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	17540367	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Meningioma	Malignant Meningioma	CTD_human_DG	19747051		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	14676833, 15466187, 15792117, 16912163, 17043665, 17099723, 17540367, 19551853, 20004178, 21092257, 22688893, 23006792, 23088560, 24742492, 8995380		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	17043665		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	29037838		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	12956427, 31180557		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	19503093		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	19503093		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	20004178, 28281969		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	16912163, 18832685, 20004178, 22688893, 23088560, 31180557		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	29037838		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	17043665		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	15466187, 16356477, 17043665		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	16912163, 17540367, 19074894, 19551853, 23006792, 27510924		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	17043665		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	17043665		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	20074384, 28630039	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	CTD_human_DG	22535842		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	28630039		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	15832773, 19747051		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meningioma	Meningioma	LHGDN	15832773		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meningioma	Meningioma	CTD_human_DG	19747051		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meningiomas, Multiple	Meningioma	CTD_human_DG	19747051		★☆☆☆☆ Found in Text Mining only
Meningothelial meningioma	Meningothelial Meningioma	CTD_human_DG	19747051		★☆☆☆☆ Found in Text Mining only
MERRF Syndrome	MERRF Syndrome	BEFREE	11579433		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	28378817	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcystic meningioma	Microcystic Meningioma	CTD_human_DG	19747051		★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	BEFREE	18325013		★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease, Lower	Motor Neuron Disease	BEFREE	29169047		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	12058102, 17158032, 18325013, 21757863, 22154554, 23205931, 26843564, 28378817		★☆☆☆☆ Found in Text Mining only
Moyamoya Disease	Moyamoya disease	Pubtator	37400835	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	35881476	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	37299978	Associate	★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsies, Progressive	Myoclonic epilepsy	CLINVAR_DG	10441148, 15483648, 17003839, 17920138, 23205931, 26843564, 8596935, 9012407, 9054946, 9342192, 9360639		★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsies, Progressive	Myoclonic epilepsy	BEFREE	10441345, 10446747, 10484766, 10660338, 10721698, 10792446, 10927802, 11697734, 11790146, 12393805, 12452481, 12901878, 14517952, 15483648, 17003839, 18325013, 18824390, 20889561, 22140471, 24234043, 24909779, 25752200, 25770194, 27785699, 27888502, 28378817, 29396360, 30669344, 31467503, 8005591, 8014963, 8104628, 8530089, 8596935, 8651302, 8938434, 8963899, 9012407, 9054946, 9090386, 9126745, 9342192, 9360639		★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsies, Progressive	Myoclonic epilepsy	LHGDN	11697735		★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	12853462, 14517952, 14526183, 16155205, 16379547, 31766320, 7908874, 9806543		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12798398, 12956427, 15466187, 15792117, 16912163, 17043665, 17099723, 17540367, 18607344, 19262604, 19551853, 20004178, 21092257, 23583907, 24742492, 27090639, 29037838, 8995380, 9583733		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	15780491, 9806543		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	16155205, 19656408, 28378817	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	12452481, 17003839, 18325013, 19273077, 20889561		★☆☆☆☆ Found in Text Mining only
NEUROTICISM	Neuroticism	BEFREE	31830938		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	CTD_human_DG	17043644		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	16912163, 21092257		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	LHGDN	16912163		★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	BEFREE	19170735		★☆☆☆☆ Found in Text Mining only
Northern epilepsy syndrome	Northern epilepsy syndrome	BEFREE	8014963		★☆☆☆☆ Found in Text Mining only
Oculomotor apraxia	Oculomotor apraxia	BEFREE	17994572		★☆☆☆☆ Found in Text Mining only
Olfactory Groove Meningioma	Olfactory Groove Meningioma	CTD_human_DG	19747051		★☆☆☆☆ Found in Text Mining only
Ovarian clear cell carcinoma	Ovarian Carcinoma	BEFREE	25633807		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	31180557		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	18754876		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	18754876	Associate	★☆☆☆☆ Found in Text Mining only
Papillary Meningioma	Papillary Meningioma	CTD_human_DG	19747051		★☆☆☆☆ Found in Text Mining only
Parasagittal Meningioma	Parasagittal Meningioma	CTD_human_DG	19747051		★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	30262158		★☆☆☆☆ Found in Text Mining only
Posterior Fossa Meningioma	Fossa Meningioma	CTD_human_DG	19747051		★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	BEFREE	12853462		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	19503093		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	19503093		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	19503093		★☆☆☆☆ Found in Text Mining only
Psammomatous Meningioma	Psammomatous Meningioma	CTD_human_DG	19747051		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	19438477		★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	BEFREE	19087113		★☆☆☆☆ Found in Text Mining only
Sarcopenia	Sarcopenia	Pubtator	35271662	Associate	★☆☆☆☆ Found in Text Mining only
Secretory meningioma	Secretory Meningioma	CTD_human_DG	19747051		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	23205931, 9012407	Associate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	31766320		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sphenoid Wing Meningioma	Sphenoid Wing Meningioma	CTD_human_DG	19747051		★☆☆☆☆ Found in Text Mining only
Spinal Meningioma	Spinal Meningioma	CTD_human_DG	19747051		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	CTD_human_DG	21517111		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of oropharynx	Oropharyngeal carcinoma	BEFREE	12798398		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	15138478		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	20004178, 28281969		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	26911362, 28281969, 34057136	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	35488257	Inhibit	★☆☆☆☆ Found in Text Mining only
Synovitis	Synovitis	BEFREE	30269048		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	18676742	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	LHGDN	18676742		★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	BEFREE	15483648, 30999254		★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tonic-Clonic Epilepsy	Tonic-Clonic Epilepsy	BEFREE	18325013		★☆☆☆☆ Found in Text Mining only
Total Hypotrichosis, Mari type	Hypotrichosis	BEFREE	30425301		★☆☆☆☆ Found in Text Mining only
Transitional Meningioma	Transitional Meningioma	CTD_human_DG	19747051		★☆☆☆☆ Found in Text Mining only
Unverricht-Lundborg disease	Myoclonic Epilepsy	Orphanet			★☆☆☆☆ Found in Text Mining only
Unverricht-Lundborg Syndrome	Myoclonic Epilepsy	BEFREE	10446747, 10660338, 10792446, 11571333, 11579433, 11697734, 11814737, 12215838, 12393805, 12853462, 14510831, 14517952, 14526183, 15483648, 15634728, 15780491, 16155205, 16930946, 17003839, 18028412, 18325013, 18358403, 18824390, 19087113, 19170735, 20889561, 21757863, 23205931, 23622396, 23883076, 25752200, 25770194, 27577977, 27621064, 27785699, 27888502, 28378817, 29978618, 30208654, 30669344, 31368437, 31446282, 31467503, 31766320, 7485240, 7647781, 8005591, 8208346, 8293722, 8596935, 9012407, 9054946, 9153533, 9360639, 9806543		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unverricht-Lundborg Syndrome	Myoclonic Epilepsy	CTD_human_DG	11814737, 25288807		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unverricht-Lundborg Syndrome	Myoclonic Epilepsy	CLINVAR_DG	11814737, 15329070, 15483648, 16155205, 17003839, 18028412, 18925453, 20078424, 21757863, 22936898, 23205931, 26843564, 8596935, 9054946, 9360639		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unverricht-Lundborg Syndrome	Myoclonic Epilepsy	GENOMICS_ENGLAND_DG	17003839, 26843564, 27604308, 8596935		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unverricht-Lundborg Syndrome	Myoclonic Epilepsy	ORPHANET_DG	9012407		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unverricht-Lundborg Syndrome	Myoclonic Epilepsy	UNIPROT_DG	9012407		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	35647202	Associate	★☆☆☆☆ Found in Text Mining only
Urolithiasis	Urolithiasis	BEFREE	27810168		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	18506750	Inhibit	★☆☆☆☆ Found in Text Mining only
Xanthomatous Meningioma	Xanthomatous Meningioma	CTD_human_DG	19747051		★☆☆☆☆ Found in Text Mining only