KCNC3 (potassium voltage-gated channel subfamily C member 3)

Gene

• Entrez ID: 3748
• Gene name: Potassium voltage-gated channel subfamily C member 3
• Gene symbol: KCNC3
• Synonyms (NCBI Gene): KSHIIID, KV3.3, SCA13
• Chromosome: 19
• Chromosome location: 19q13.33
• Summary: The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to one of these subfamilies, namely the Shaw subfamily. The protein encode

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894699	C>T	Pathogenic	Intron variant, coding sequence variant, missense variant
rs104894700	G>C,T	Pathogenic	Intron variant, coding sequence variant, missense variant
rs747618525	CGGGGGTGG>-,CGGGGGTGGCGGGGGTGG	Likely-pathogenic, likely-benign	Inframe insertion, coding sequence variant, intron variant, inframe deletion
rs797044872	C>T	Pathogenic	Missense variant, intron variant, coding sequence variant
rs879253883	G>A	Pathogenic	Missense variant, intron variant, coding sequence variant
rs1064795793	G>C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1408825410	G>A,C,T	Likely-pathogenic	Stop gained, missense variant, non coding transcript variant, coding sequence variant, synonymous variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT712473	hsa-miR-4793-5p	HITS-CLIP	19536157
MIRT712472	hsa-miR-6892-3p	HITS-CLIP	19536157
MIRT712471	hsa-miR-3183	HITS-CLIP	19536157
MIRT712470	hsa-miR-4723-3p	HITS-CLIP	19536157
MIRT712469	hsa-miR-6769b-3p	HITS-CLIP	19536157
MIRT712468	hsa-miR-939-3p	HITS-CLIP	19536157
MIRT712467	hsa-miR-6742-3p	HITS-CLIP	19536157
MIRT712466	hsa-miR-136-5p	HITS-CLIP	19536157
MIRT712465	hsa-miR-6845-3p	HITS-CLIP	19536157
MIRT712464	hsa-miR-7110-3p	HITS-CLIP	19536157
MIRT712463	hsa-miR-637	HITS-CLIP	19536157
MIRT712462	hsa-miR-4749-3p	HITS-CLIP	19536157
MIRT712461	hsa-miR-874-5p	HITS-CLIP	19536157
MIRT712460	hsa-miR-7974	HITS-CLIP	19536157
MIRT712459	hsa-miR-663b	HITS-CLIP	19536157
MIRT712458	hsa-miR-1343-3p	HITS-CLIP	19536157
MIRT712457	hsa-miR-6783-3p	HITS-CLIP	19536157
MIRT712456	hsa-miR-7108-5p	HITS-CLIP	19536157
MIRT657059	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT657058	hsa-miR-4267	HITS-CLIP	23824327
MIRT657057	hsa-miR-361-3p	HITS-CLIP	23824327
MIRT657055	hsa-miR-6759-3p	HITS-CLIP	23824327
MIRT657056	hsa-miR-4448	HITS-CLIP	23824327
MIRT657054	hsa-miR-192-5p	HITS-CLIP	23824327
MIRT657053	hsa-miR-215-5p	HITS-CLIP	23824327
MIRT657052	hsa-miR-4433a-5p	HITS-CLIP	23824327
MIRT495694	hsa-miR-4438	PAR-CLIP	22291592
MIRT495693	hsa-miR-4747-3p	PAR-CLIP	22291592
MIRT495692	hsa-miR-1226-3p	PAR-CLIP	22291592
MIRT495691	hsa-miR-7108-3p	PAR-CLIP	22291592
MIRT495690	hsa-miR-4707-3p	PAR-CLIP	22291592
MIRT495689	hsa-miR-6069	PAR-CLIP	22291592
MIRT712473	hsa-miR-4793-5p	HITS-CLIP	19536157
MIRT712472	hsa-miR-6892-3p	HITS-CLIP	19536157
MIRT712471	hsa-miR-3183	HITS-CLIP	19536157
MIRT712470	hsa-miR-4723-3p	HITS-CLIP	19536157
MIRT712469	hsa-miR-6769b-3p	HITS-CLIP	19536157
MIRT712468	hsa-miR-939-3p	HITS-CLIP	19536157
MIRT712467	hsa-miR-6742-3p	HITS-CLIP	19536157
MIRT712466	hsa-miR-136-5p	HITS-CLIP	19536157
MIRT712465	hsa-miR-6845-3p	HITS-CLIP	19536157
MIRT712464	hsa-miR-7110-3p	HITS-CLIP	19536157
MIRT712463	hsa-miR-637	HITS-CLIP	19536157
MIRT712462	hsa-miR-4749-3p	HITS-CLIP	19536157
MIRT712461	hsa-miR-874-5p	HITS-CLIP	19536157
MIRT712460	hsa-miR-7974	HITS-CLIP	19536157
MIRT712459	hsa-miR-663b	HITS-CLIP	19536157
MIRT712458	hsa-miR-1343-3p	HITS-CLIP	19536157
MIRT712457	hsa-miR-6783-3p	HITS-CLIP	19536157
MIRT712456	hsa-miR-7108-5p	HITS-CLIP	19536157
MIRT657059	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT657058	hsa-miR-4267	HITS-CLIP	23824327
MIRT657057	hsa-miR-361-3p	HITS-CLIP	23824327
MIRT657055	hsa-miR-6759-3p	HITS-CLIP	23824327
MIRT657056	hsa-miR-4448	HITS-CLIP	23824327
MIRT657054	hsa-miR-192-5p	HITS-CLIP	23824327
MIRT657053	hsa-miR-215-5p	HITS-CLIP	23824327
MIRT657052	hsa-miR-4433a-5p	HITS-CLIP	23824327
MIRT495694	hsa-miR-4438	PAR-CLIP	22291592
MIRT495693	hsa-miR-4747-3p	PAR-CLIP	22291592
MIRT495692	hsa-miR-1226-3p	PAR-CLIP	22291592
MIRT495691	hsa-miR-7108-3p	PAR-CLIP	22291592
MIRT495690	hsa-miR-4707-3p	PAR-CLIP	22291592
MIRT495689	hsa-miR-6069	PAR-CLIP	22291592
MIRT1080569	hsa-miR-1207-5p	CLIP-seq
MIRT1080570	hsa-miR-1231	CLIP-seq
MIRT1080571	hsa-miR-1321	CLIP-seq
MIRT1080572	hsa-miR-1909	CLIP-seq
MIRT1080573	hsa-miR-2276	CLIP-seq
MIRT1080574	hsa-miR-2278	CLIP-seq
MIRT1080575	hsa-miR-2467-5p	CLIP-seq
MIRT1080576	hsa-miR-3120-5p	CLIP-seq
MIRT1080577	hsa-miR-3199	CLIP-seq
MIRT1080578	hsa-miR-342-3p	CLIP-seq
MIRT1080579	hsa-miR-378	CLIP-seq
MIRT1080580	hsa-miR-378b	CLIP-seq
MIRT1080581	hsa-miR-378c	CLIP-seq
MIRT1080582	hsa-miR-378d	CLIP-seq
MIRT1080583	hsa-miR-378e	CLIP-seq
MIRT1080584	hsa-miR-378f	CLIP-seq
MIRT1080585	hsa-miR-378h	CLIP-seq
MIRT1080586	hsa-miR-378i	CLIP-seq
MIRT1080587	hsa-miR-422a	CLIP-seq
MIRT1080588	hsa-miR-4268	CLIP-seq
MIRT1080589	hsa-miR-4300	CLIP-seq
MIRT1080590	hsa-miR-431	CLIP-seq
MIRT1080591	hsa-miR-4419a	CLIP-seq
MIRT1080592	hsa-miR-4475	CLIP-seq
MIRT1080593	hsa-miR-4481	CLIP-seq
MIRT1080594	hsa-miR-4506	CLIP-seq
MIRT1080595	hsa-miR-4510	CLIP-seq
MIRT1080596	hsa-miR-4514	CLIP-seq
MIRT1080597	hsa-miR-4527	CLIP-seq
MIRT1080598	hsa-miR-4638-3p	CLIP-seq
MIRT1080599	hsa-miR-4651	CLIP-seq
MIRT1080600	hsa-miR-4656	CLIP-seq
MIRT1080601	hsa-miR-4690-5p	CLIP-seq
MIRT1080602	hsa-miR-4691-5p	CLIP-seq
MIRT1080603	hsa-miR-4692	CLIP-seq
MIRT1080604	hsa-miR-4699-5p	CLIP-seq
MIRT1080605	hsa-miR-4708-3p	CLIP-seq
MIRT1080606	hsa-miR-4711-3p	CLIP-seq
MIRT1080607	hsa-miR-4728-5p	CLIP-seq
MIRT1080608	hsa-miR-4739	CLIP-seq
MIRT1080609	hsa-miR-4745-5p	CLIP-seq
MIRT1080610	hsa-miR-4756-5p	CLIP-seq
MIRT1080611	hsa-miR-4758-5p	CLIP-seq
MIRT1080612	hsa-miR-4763-3p	CLIP-seq
MIRT1080613	hsa-miR-4772-3p	CLIP-seq
MIRT1080614	hsa-miR-608	CLIP-seq
MIRT1080615	hsa-miR-615-5p	CLIP-seq
MIRT1080616	hsa-miR-626	CLIP-seq
MIRT1080617	hsa-miR-920	CLIP-seq
MIRT1080618	hsa-miR-940	CLIP-seq
MIRT2019986	hsa-miR-2110	CLIP-seq
MIRT2019987	hsa-miR-3150a-3p	CLIP-seq
MIRT2019988	hsa-miR-3189-3p	CLIP-seq
MIRT1080578	hsa-miR-342-3p	CLIP-seq
MIRT2019989	hsa-miR-34a	CLIP-seq
MIRT2019990	hsa-miR-34c-5p	CLIP-seq
MIRT2019991	hsa-miR-371b-3p	CLIP-seq
MIRT2019992	hsa-miR-4271	CLIP-seq
MIRT2019993	hsa-miR-4488	CLIP-seq
MIRT2019994	hsa-miR-449a	CLIP-seq
MIRT2019995	hsa-miR-449b	CLIP-seq
MIRT2019996	hsa-miR-4697-5p	CLIP-seq
MIRT2019997	hsa-miR-4725-3p	CLIP-seq
MIRT2019998	hsa-miR-4747-5p	CLIP-seq
MIRT2019999	hsa-miR-513a-5p	CLIP-seq
MIRT2020000	hsa-miR-938	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001508	Process	Action potential	IBA
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005249	Function	Voltage-gated potassium channel activity	IDA	21479265
GO:0005249	Function	Voltage-gated potassium channel activity	IEA
GO:0005249	Function	Voltage-gated potassium channel activity	IMP	19953606, 21479265, 23734863, 25756792
GO:0005249	Function	Voltage-gated potassium channel activity	ISS	10712820
GO:0005251	Function	Delayed rectifier potassium channel activity	IBA
GO:0005267	Function	Potassium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	26997484
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IDA	23734863, 25152487, 25756792
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005938	Component	Cell cortex	IDA	26997484
GO:0005938	Component	Cell cortex	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006813	Process	Potassium ion transport	IDA	16501573, 21479265
GO:0006813	Process	Potassium ion transport	IEA
GO:0008076	Component	Voltage-gated potassium channel complex	IBA
GO:0008076	Component	Voltage-gated potassium channel complex	IDA	16501573, 21479265, 23734863, 26997484
GO:0008076	Component	Voltage-gated potassium channel complex	IEA
GO:0016020	Component	Membrane	IEA
GO:0022836	Function	Gated channel activity	IEA
GO:0030424	Component	Axon	IEA
GO:0030425	Component	Dendrite	IDA	21479265
GO:0030425	Component	Dendrite	IEA
GO:0030866	Process	Cortical actin cytoskeleton organization	IDA	26997484
GO:0032590	Component	Dendrite membrane	IBA
GO:0032591	Component	Dendritic spine membrane	IEA
GO:0032809	Component	Neuronal cell body membrane	IBA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0042734	Component	Presynaptic membrane	IBA
GO:0042734	Component	Presynaptic membrane	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043204	Component	Perikaryon	IEA
GO:0043679	Component	Axon terminus	IBA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IBA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051260	Process	Protein homooligomerization	IEA
GO:0051262	Process	Protein tetramerization	IDA	23734863
GO:0055085	Process	Transmembrane transport	IEA
GO:0071805	Process	Potassium ion transmembrane transport	IBA
GO:0071805	Process	Potassium ion transmembrane transport	IEA
GO:0071805	Process	Potassium ion transmembrane transport	IMP	19953606, 21479265, 23734863, 25756792

Other IDs

• MIM: 176264
• HGNC: 6235
• e!Ensembl: ENSG00000131398

Protein

• UniProt ID: Q14003
• Protein name: Voltage-gated potassium channel KCNC3 (KSHIIID) (Potassium voltage-gated channel subfamily C member 3) (Voltage-gated potassium channel subunit Kv3.3)
• Protein function: Voltage-gated potassium channel that plays an important role in the rapid repolarization of fast-firing brain neurons. The channel opens in response to the voltage difference across the membrane, forming a potassium-selective channel through whi
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF11404	Potassium_chann	1 → 23	Potassium voltage-gated channel	Family
  PF02214	BTB_2	90 → 184	BTB/POZ domain	Domain
  PF00520	Ion_trans	289 → 550	Ion transport protein	Family

• Sequence:

  MLSSVCVSSFRGRQGASKQQPAPPPQPPESPPPPPLPPQQQQPAQPGPAASPAGPPAPRG
  PGDRRAEPCPGLPAAAMGRHGGGGGDSGKIVINVGGVRHETYRSTLRTLPGTRLAGLTEP
  EAAARFDYDPGADEFFFDRHPGVFAYVLNYYRTGKLHCPADVCGPLFEEELGFWGIDETD
  VEACCWMTYRQHRDAEEALDSFEAPDPAGAANAANAAGAHDGGLDDEAGAGGGGLDGAGG
  ELKRLCFQDAGGGAGGPPGGAGGAGGTWWRRWQPRVWALFEDPYSSRAARYVAFASLFFI
  LISITTFCLETHEGFIHISNKTVTQASPIPGAPPENITNVEVETEPFLTYVEGVCVVWFT
  FEFLMRITFCPDKVEFLKSSLNIIDCVAILPFYLEVGLSGLSSKAAKDVLGFLRVVRFVR
  ILRIFKLTRHFVGLRVLGHTLRASTNEFLLLIIFLALGVLIFATMIYYAERIGADPDDIL
  GSNHTYFKNIPIGFWWAVVTMTTLGYGDMYPKTWSGMLVGALCALAGVLTIAMPVPVIVN
  NFGMYYSLAMAKQKLPKKKNKHIPRPPQPGSPNYCKPDPPPPPPPHPHHGSGGISPPPPI
  TPPSMGVTVAGAYPAGPHTHPGLLRGGAGGLGIMGLPPLPAPGEPCPLAQEEVIEINRAD
  PRPNGDPAAAALAHEDCPAIDQPAMSPEDKSPITPGSRGRYSRDRACFLLTDYAPSPDGS
  IRKATGAPPLPPQDWRKPGPPSFLPDLNANAAAWISP

• Sequence length: 757

Pathways

KEGG:

Spinocerebellar ataxia

Reactome:

Voltage gated Potassium channels

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
Hereditary ataxia	Pathogenic	rs104894699	RCV005624688	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spinocerebellar ataxia type 13	Pathogenic; Likely pathogenic	rs797044872, rs879253883, rs104894699, rs104894700, rs1555781806, rs2037067131	RCV000613729 RCV000235759 RCV000014415 RCV000014416 RCV000625748 RCV001253200	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Tip-toe gait	Likely pathogenic	rs371116909	RCV002227949	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Cervical cancer	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cleft palate	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KCNC3-related disorder	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA 13	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Ataxia	Ataxia	Pubtator	24030952, 37365508, 39596509	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	BEFREE	21479265, 23293936, 29624773		★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	23912307	Associate	★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	39596509	Associate	★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	16501573		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	24372385	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	24372385, 37365508	Associate	★☆☆☆☆ Found in Text Mining only
Friedreich Ataxia	Friedreich Ataxia	BEFREE	21479265		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	25756792	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	23734863, 29949095		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	16501573, 23293936, 26442672		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	LHGDN	16501573		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spinocerebellar ataxia 13	Spinocerebellar Ataxia	UNIPROT_DG	16501573, 19953606, 21479265, 22289912, 23734863, 25152487, 25756792		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinocerebellar ataxia 13	Spinocerebellar Ataxia	GENOMICS_ENGLAND_DG	16501573		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinocerebellar ataxia 13	Spinocerebellar Ataxia	BEFREE	18592334, 21479265, 23734863, 25152487, 25756792, 26442672, 29949095		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinocerebellar ataxia 13	Spinocerebellar ataxia	Pubtator	23912307, 24116147, 25756792, 37365508, 39596509	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinocerebellar ataxia 13	Spinocerebellar Ataxia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinocerebellar ataxia 13	Spinocerebellar Ataxia	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinocerebellar ataxia 13	Spinocerebellar Ataxia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinocerebellar ataxia type 13	Spinocerebellar Ataxia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spinocerebellar Ataxias	Spinocerebellar ataxia	Pubtator	29316893	Stimulate	★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxias	Spinocerebellar ataxia	Pubtator	37301203	Associate	★☆☆☆☆ Found in Text Mining only
Upgaze palsy	Upgaze palsy	HPO_DG			★☆☆☆☆ Found in Text Mining only