COQ8A (coenzyme Q8A)

Gene

• Entrez ID: 56997
• Gene name: Coenzyme Q8A
• Gene symbol: COQ8A
• Synonyms (NCBI Gene): ADCK3, ARCA2, CABC1, COQ10D4, COQ8, SCAR9
• Chromosome: 1
• Chromosome location: 1q42.13
• Summary: This gene encodes a mitochondrial protein similar to yeast ABC1, which functions in an electron-transferring membrane protein complex in the respiratory chain. It is not related to the family of ABC transporter proteins. Expression of this gene is induced

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs74589348	C>G,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, synonymous variant
rs119468004	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs119468005	C>G,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs119468006	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs119468008	A>G	Pathogenic	Missense variant, coding sequence variant
rs119468009	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs140246430	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs141725964	C>G,T	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, missense variant
rs145034527	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs150243147	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs199874519	G>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs201618750	C>A,T	Likely-pathogenic, likely-benign	Coding sequence variant, synonymous variant, stop gained
rs201908721	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs369502091	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs373971613	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs376478331	G>A,C,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs387906298	->G	Pathogenic	Coding sequence variant, frameshift variant
rs387906299	ACC>-	Pathogenic	Coding sequence variant, inframe deletion
rs578189699	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs606231138	T>C	Pathogenic	Splice donor variant
rs606231139	AATCCCCTGTTGGGGGCCTCAC>TTG	Pathogenic	Coding sequence variant, frameshift variant
rs747150601	T>A	Pathogenic	Stop gained, coding sequence variant
rs748118737	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs751637699	TA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs752130338	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs753254213	C>T	Pathogenic	Coding sequence variant, stop gained
rs755933881	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs760327691	AGGTGAGCCCCAGGGTGGGGGCA>-	Likely-pathogenic	Splice donor variant, intron variant, coding sequence variant
rs763311061	G>A,C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs764847439	GGG>-,GG,GGGG	Pathogenic, uncertain-significance	Frameshift variant, inframe deletion, coding sequence variant
rs765966679	G>A,T	Likely-pathogenic, uncertain-significance	Stop gained, coding sequence variant, missense variant
rs767406263	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs767584322	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs771578775	C>T	Pathogenic	Stop gained, coding sequence variant
rs772127266	->A	Pathogenic	Coding sequence variant, frameshift variant
rs781518112	T>C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs797045217	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs863223884	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs863223887	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs886042265	GGCTGGCC>-	Pathogenic	Frameshift variant, coding sequence variant
rs974677376	G>A	Pathogenic	Splice donor variant
rs1057519343	T>C	Pathogenic	Missense variant, coding sequence variant
rs1057519344	->GTA	Pathogenic	Coding sequence variant, splice acceptor variant
rs1085307053	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1085307497	AA>C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1271428051	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553276474	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553276966	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1553280621	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553281318	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1558212305	->G	Likely-pathogenic	3 prime UTR variant
rs1572040505	C>T	Pathogenic	Coding sequence variant, stop gained
rs1572079834	GG>CA	Likely-pathogenic	Coding sequence variant, missense variant
rs1572081759	A>G	Likely-pathogenic	Splice acceptor variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004672	Function	Protein kinase activity	IDA	27499294
GO:0004672	Function	Protein kinase activity	ISS
GO:0005515	Function	Protein binding	IPI	16189514, 25416956, 25910212, 27499296, 31515488, 32296183, 32814053
GO:0005524	Function	ATP binding	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	25498144, 33988507
GO:0005739	Component	Mitochondrion	IEA
GO:0006468	Process	Protein phosphorylation	IDA	27499294
GO:0006744	Process	Ubiquinone biosynthetic process	IBA
GO:0006744	Process	Ubiquinone biosynthetic process	IDA	38425362
GO:0006744	Process	Ubiquinone biosynthetic process	IEA
GO:0006744	Process	Ubiquinone biosynthetic process	IMP	25498144, 27499294
GO:0008047	Function	Enzyme activator activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IDA	25498144, 27499294
GO:0016301	Function	Kinase activity	IEA
GO:0016310	Process	Phosphorylation	IDA	25498144, 27499294
GO:0016740	Function	Transferase activity	IEA
GO:0031314	Component	Extrinsic component of mitochondrial inner membrane	IEA
GO:0031966	Component	Mitochondrial membrane	IEA
GO:0043531	Function	ADP binding	IDA	25498144

Other IDs

• MIM: 606980
• HGNC: 16812
• e!Ensembl: ENSG00000163050

Protein

• UniProt ID: Q8NI60
• Protein name: Atypical kinase COQ8A, mitochondrial (EC 2.7.-.-) (Chaperone activity of bc1 complex-like) (Chaperone-ABC1-like) (Coenzyme Q protein 8A) (aarF domain-containing protein kinase 3)
• Protein function: Atypical kinase involved in the biosynthesis of coenzyme Q, also named ubiquinone, an essential lipid-soluble electron transporter for aerobic cellular respiration (PubMed:21296186, PubMed:25498144, PubMed:25540914, PubMed:27499294, PubMed:36302
• PDB: 4PED, 5I35, 7UDP, 7UDQ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03109	ABC1	318 → 434	ABC1 family	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed, with highest levels in adrenal gland, heart, pancreas, nasal mucosa, stomach, uterus and skeletal muscle. {ECO:0000269|PubMed:24270420}.
• Sequence:

  MAAILGDTIMVAKGLVKLTQAAVETHLQHLGIGGELIMAARALQSTAVEQIGMFLGKVQG
  QDKHEEYFAENFGGPEGEFHFSVPHAAGASTDFSSASAPDQSAPPSLGHAHSEGPAPAYV
  ASGPFREAGFPGQASSPLGRANGRLFANPRDSFSAMGFQRRFFHQDQSPVGGLTAEDIEK
  ARQAKARPENKQHKQTLSEHARERKVPVTRIGRLANFGGLAVGLGFGALAEVAKKSLRSE
  DPSGKKAVLGSSPFLSEANAERIVRTLCKVRGAALKLGQMLSIQDDAFINPHLAKIFERV
  RQSADFMPLKQMMKTLNNDLGPNWRDKLEYFEERPFAAASIGQVHLARMKGGREVAMKIQ
  YPGVAQSINSDVNNLMAVLNMSNMLPEGLFPEHLIDVLRRELALECDYQREAACARKFRD
  LLKGHPFFYVPEIVDELCSPHVLTTELVSGFPLDQAEGLSQEIRNEICYNILVLCLRELF
  EFHFMQTDPNWSNFFYDPQQHKVALLDFGATREYDRSFTDLYIQIIRAAADRDRETVRAK
  SIEMKFLTGYEVKVMEDAHLDAILILGEAFASDEPFDFGTQSTTEKIHNLIPVMLRHRLV
  PPPEETYSLHRKMGGSFLICSKLKARFPCKAMFEEAYSNYCKRQAQQ

• Sequence length: 647

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
Autosomal recessive ataxia due to ubiquinone deficiency	Pathogenic; Likely pathogenic	rs754586499, rs1229054489, rs1433323183, rs1474965033, rs1553281318, rs119468005, rs119468006, rs387906298, rs606231138, rs606231139, rs119468008, rs387906299, rs797045217, rs578189699, rs764847439, rs771578775, rs755933881, rs199874519, rs1085307053, rs2528412973, rs1243721108, rs1659734330, rs886042265, rs2528377417, rs2528390756, rs2528230767, rs2528399382, rs2528399305, rs752417487, rs201908721, rs747150601, rs1057519343, rs752130338, rs748118737, rs781518112, rs753254213, rs140246430, rs974677376, rs1553280621, rs765966679, rs767584322, rs751637699, rs1271428051, rs1572040505, rs767406263, rs1659738028, rs1659735679	RCV001647227 RCV001647226 RCV001647228 RCV002272750 RCV000985120 RCV000003822 RCV000003823 RCV000003824 RCV000003825 RCV000003826 RCV000003827 RCV000003828 RCV000003829 RCV000193346 RCV000194388 RCV000416393 RCV000416404 RCV003152697 RCV000778972 RCV000490281 RCV002810029 RCV003143777 RCV004765775 RCV004563297 RCV003326710 RCV003326712 RCV003486311 RCV003985714 RCV003989408 RCV004527522 RCV004595155 RCV000416388 RCV000416409 RCV000416402 RCV000416410 RCV001782903 RCV000515534 RCV006254052 RCV000500136 RCV000515538 RCV000626223 RCV001824848 RCV000824898 RCV000824890 RCV000986560 RCV000995683 RCV000995685 RCV001249827 RCV001291993	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cerebellar ataxia	Likely pathogenic	rs959109094	RCV001541908	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Coenzyme Q10 deficiency, primary, 1	Likely pathogenic	rs1558212305, rs1658479678	RCV000721972 RCV001195421	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
COQ8A-related disorder	Likely pathogenic; Pathogenic	rs1194024312, rs1473126291	RCV003404295 RCV003414461	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial cancer of breast	Likely pathogenic; Pathogenic	rs199874519	RCV005893880	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Pathogenic	rs753254213	RCV001527640	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hepatocellular carcinoma	Likely pathogenic	rs1194024312	RCV005932768	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial disease	Likely pathogenic; Pathogenic	rs755933881, rs1572079834	RCV000852404 RCV000852403	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Possible mitochondrial disorder - nuclear genes	Likely pathogenic; Pathogenic	rs387906299, rs753254213	RCV005865084 RCV006249375	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Abnormality of the nervous system	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal recessive cerebellar ataxia	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CATARACT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLAR ATROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coenzyme Q10 deficiency	Benign; Likely benign	ClinVar Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
COENZYME Q10 DEFICIENCY, PRIMARY, 4	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type	Benign; Conflicting classifications of pathogenicity; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Joubert syndrome 17	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NYSTAGMUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Anxiety	Anxiety Disorder	GWASCAT_DG	29942085		★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	21873089, 24164873, 26866375, 29915382, 32337771	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia Like Disorder	Ataxia telangiectasia	Pubtator	29915382	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia with vitamin E deficiency	Friedreich Ataxia	BEFREE	19440741		★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	BEFREE	30968303, 31078656		★☆☆☆☆ Found in Text Mining only
Autosomal recessive ataxia due to ubiquinone deficiency	Ataxia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	18319072, 24218524, 25216398, 26818466, 32743982, 34663476	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebellar atrophy	Cerebellar atrophy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebellar Diseases	Cerebellar diseases	Pubtator	18319072, 24164873, 35275351	Associate	★☆☆☆☆ Found in Text Mining only
COENZYME Q10 DEFICIENCY	Coenzyme Q10 Deficiency	BEFREE	18319072, 18319074, 30251690		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Coenzyme Q10 Deficiency	Coenzyme q10 deficiency	Pubtator	18319072, 24164873, 24218524, 25216398, 26818466, 32743982	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Coenzyme Q10 Deficiency	Coenzyme q10 deficiency	Pubtator	19096106, 32830305	Stimulate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
COENZYME Q10 DEFICIENCY	Coenzyme Q10 Deficiency	GENOMICS_ENGLAND_DG	24896178, 27604308		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
COENZYME Q10 DEFICIENCY, PRIMARY, 1	Coenzyme Q10 deficiency	CTD_human_DG	18319072		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
COENZYME Q10 DEFICIENCY, PRIMARY, 1	Coenzyme Q10 deficiency	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
COENZYME Q10 DEFICIENCY, PRIMARY, 1	Coenzyme Q10 deficiency	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cognition Disorders	Cognition disorder	Pubtator	32337771	Associate	★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	36421848	Associate	★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	27476418, 31621627		★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	32830305	Associate	★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	27106809		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	37402867	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	27106809		★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	27106809		★☆☆☆☆ Found in Text Mining only
FRIEDREICH ATAXIA 1	Friedreich Ataxia	BEFREE	19440741		★☆☆☆☆ Found in Text Mining only
Gynecomastia	Gynecomastia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	31741144		★☆☆☆☆ Found in Text Mining only
Kearns-Sayre syndrome	Kearns Sayre Syndrome	BEFREE	27476418		★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	BEFREE	27476418		★☆☆☆☆ Found in Text Mining only
Marinesco-Sjogren syndrome	Marinesco-Sjogren Syndrome	BEFREE	19440741		★☆☆☆☆ Found in Text Mining only
MELAS Syndrome	MELAS Syndrome	BEFREE	27476418		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	27106809		★☆☆☆☆ Found in Text Mining only
MERRF Syndrome	MERRF Syndrome	BEFREE	27476418		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial encephalopathy	Mitochondrial encephalopathy	BEFREE	27106809		★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	35275351	Associate	★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Progressive cerebellar ataxia	Cerebellar Ataxia	BEFREE	20580948, 27106809, 27499294, 31741144		★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis	Scoliosis	Pubtator	32743982	Associate	★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	18319072, 21873089, 35275351	Associate	★☆☆☆☆ Found in Text Mining only
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE	Spastic Ataxia	BEFREE	19440741		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Autosomal Recessive 9	Spinocerebellar ataxia	Pubtator	24164873, 26866375	Associate	★☆☆☆☆ Found in Text Mining only
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9	Spinocerebellar Ataxia	CLINVAR_DG	18319072, 18319074, 22036850, 24164873, 26640698		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9	Spinocerebellar Ataxia	UNIPROT_DG	18319072, 18319074, 20580948, 22036850, 24048965, 24218524, 25498144, 26818466, 27106809		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9	Spinocerebellar Ataxia	GENOMICS_ENGLAND_DG	24896178, 25655951, 27604308, 29915382		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9	Spinocerebellar Ataxia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinocerebellar Ataxias	Spinocerebellar ataxia	Pubtator	35275351	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	24164873	Associate	★☆☆☆☆ Found in Text Mining only
Vacuolar myopathy	Vacuolar myopathy	Pubtator	21873089	Associate	★☆☆☆☆ Found in Text Mining only