TWNK (twinkle mtDNA helicase)

Gene

• Entrez ID: 56652
• Gene name: Twinkle mtDNA helicase
• Gene symbol: TWNK
• Synonyms (NCBI Gene): ATXN8, C10orf2, IOSCA, MTDPS7, PEO, PEO1, PEOA3, PRLTS5, SANDO, SCA8, TWINL
• Chromosome: 10
• Chromosome location: 10q24.31
• Summary: This gene encodes a hexameric DNA helicase which unwinds short stretches of double-stranded DNA in the 5` to 3` direction and, along with mitochondrial single-stranded DNA binding protein and mtDNA polymerase gamma, is thought to play a key role in mtDNA

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs80356540	A>G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs80356541	C>T	Pathogenic	Intron variant, synonymous variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant
rs80356544	C>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs111033572	G>C	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs111033574	G>A,C,T	Pathogenic	Stop gained, missense variant, non coding transcript variant, coding sequence variant
rs182559752	G>A,C,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant, non coding transcript variant, 3 prime UTR variant
rs369588002	G>A	Uncertain-significance, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs386834145	C>G	Likely-pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs386834146	C>G,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs672601360	A>G	Pathogenic	3 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant
rs672601361	T>G	Pathogenic	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, missense variant
rs753386843	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs773918715	C>G,T	Likely-pathogenic	Synonymous variant, intron variant, 5 prime UTR variant, missense variant, coding sequence variant, non coding transcript variant
rs863223925	TT>-,TTT	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1064797150	C>T	Likely-pathogenic	3 prime UTR variant, non coding transcript variant, stop gained, coding sequence variant
rs1085307937	G>A	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1366090807	C>G,T	Likely-pathogenic	Synonymous variant, 5 prime UTR variant, non coding transcript variant, missense variant, coding sequence variant
rs1554887207	T>C	Likely-pathogenic	Initiator codon variant, missense variant, coding sequence variant, non coding transcript variant
rs1554887213	G>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1554887222	T>C	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1590020571	C>G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT528625	hsa-miR-4747-3p	PAR-CLIP	22012620
MIRT528624	hsa-miR-4717-3p	PAR-CLIP	22012620
MIRT528623	hsa-miR-4267	PAR-CLIP	22012620
MIRT528622	hsa-miR-6741-3p	PAR-CLIP	22012620
MIRT528621	hsa-miR-4638-5p	PAR-CLIP	22012620
MIRT528620	hsa-miR-4290	PAR-CLIP	22012620
MIRT528619	hsa-miR-874-5p	PAR-CLIP	22012620
MIRT528618	hsa-miR-5704	PAR-CLIP	22012620
MIRT528617	hsa-miR-1295a	PAR-CLIP	22012620

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000262	Component	Mitochondrial chromosome	IDA	26253742
GO:0002020	Function	Protease binding	IPI	14739292
GO:0003678	Function	DNA helicase activity	IBA
GO:0003678	Function	DNA helicase activity	IEA
GO:0003697	Function	Single-stranded DNA binding	IBA
GO:0003697	Function	Single-stranded DNA binding	IDA	18971204
GO:0003697	Function	Single-stranded DNA binding	IEA
GO:0004386	Function	Helicase activity	IEA
GO:0005515	Function	Protein binding	IPI	28514442, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006260	Process	DNA replication	IEA
GO:0006260	Process	DNA replication	IEA
GO:0006261	Process	DNA-templated DNA replication	IDA	15167897
GO:0006264	Process	Mitochondrial DNA replication	IBA
GO:0006264	Process	Mitochondrial DNA replication	IEA
GO:0006264	Process	Mitochondrial DNA replication	IMP	18971204
GO:0006264	Process	Mitochondrial DNA replication	NAS	12975372
GO:0006390	Process	Mitochondrial transcription	IMP	18971204
GO:0008289	Function	Lipid binding	IDA	34950192
GO:0008289	Function	Lipid binding	IEA
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016853	Function	Isomerase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IDA	34950192
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0034214	Process	Protein hexamerization	IDA	18971204
GO:0042645	Component	Mitochondrial nucleoid	IDA	18063578, 18971204, 23275553
GO:0042645	Component	Mitochondrial nucleoid	IEA
GO:0042802	Function	Identical protein binding	IPI	18971204
GO:0043139	Function	5'-3' DNA helicase activity	IDA	12975372, 15167897, 18971204, 34950192
GO:0043139	Function	5'-3' DNA helicase activity	IEA

Other IDs

• MIM: 606075
• HGNC: 1160
• e!Ensembl: ENSG00000107815

Protein

• UniProt ID: Q96RR1
• Protein name: Twinkle mtDNA helicase (EC 5.6.2.3) (Progressive external ophthalmoplegia 1 protein) (T7 gp4-like protein with intramitochondrial nucleoid localization) (T7-like mitochondrial DNA helicase) (Twinkle protein, mitochondrial)
• Protein function: [Isoform 1]: Mitochondrial helicase involved in mtDNA replication and repair (PubMed:12975372, PubMed:15167897, PubMed:17324440, PubMed:18039713, PubMed:18971204, PubMed:25824949, PubMed:26887820, PubMed:27226550). Might have a role in mtDNA rep
• PDB: 7T8B, 7T8C
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13481	AAA_25	374 → 564		Domain

• Tissue specificity: TISSUE SPECIFICITY: High relative levels in skeletal muscle, testis and pancreas. Lower levels of expression in the heart, brain, placenta, lung, liver, kidney, spleen, thymus, prostate, ovary, small intestine, colon and leukocytes. Expression is coregula
• Sequence:

  MWVLLRSGYPLRILLPLRGEWMGRRGLPRNLAPGPPRRRYRKETLQALDMPVLPVTATEI
  RQYLRGHGIPFQDGHSCLRALSPFAESSQLKGQTGVTTSFSLFIDKTTGHFLCMTSLAEG
  SWEDFQASVEGRGDGAREGFLLSKAPEFEDSEEVRRIWNRAIPLWELPDQEEVQLADTMF
  GLTKVTDDTLKRFSVRYLRPARSLVFPWFSPGGSGLRGLKLLEAKCQGDGVSYEETTIPR
  PSAYHNLFGLPLISRRDAEVVLTSRELDSLALNQSTGLPTLTLPRGTTCLPPALLPYLEQ
  FRRIVFWLGDDLRSWEAAKLFARKLNPKRCFLVRPGDQQPRPLEALNGGFNLSRILRTAL
  PAWHKSIVSFRQLREEVLGELSNVEQAAGLRWSRFPDLNRILKGHRKGELTVFTGPTGSG
  KTTFISEYALDLCSQGVNTLWGSFEISNVRLARVMLTQFAEGRLEDQLDKYDHWADRFED
  LPLYFMTFHGQQSIRTVIDTMQHAVYVYDICHVIIDNLQFMMGHEQLSTDRIAAQDYIIG
  VFRKFATDNNCHVTLVIHPRKEDDDKELQTASIFGSAKASQEADNVLILQDRKLVTGPGK
  RYLQVSKNRFDGDVGVFPLEFNKNSLTFSIPPKNKARLKKIKDDTGPVAKKPSSGKKGAT
  TQNSEICSGQAPTPDQPDTSKRSK

• Sequence length: 684

Pathways

KEGG:

Spinocerebellar ataxia

Reactome:

Transcriptional activation of mitochondrial biogenesis

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
Auditory neuropathy	Likely pathogenic	rs756073260, rs757583061	RCV003484478 RCV003484485	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Infantile onset spinocerebellar ataxia	Pathogenic; Likely pathogenic	rs2493642676, rs111033574, rs28937887, rs80356544, rs80356540, rs80356542, rs533720034, rs863223919, rs886037832, rs1564808324, rs1590020571, rs779142717, rs781016340, rs1366090807	RCV002287306 RCV002496262 RCV001542762 RCV000004889 RCV000020865 RCV000020866 RCV005412435 RCV004579540 RCV000240394 RCV005231310 RCV000790907 RCV000855767 RCV000855762 RCV000855765	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mitochondrial disease	Likely pathogenic; Pathogenic	rs757068910, rs111033573, rs111033577, rs28937887, rs1554887097, rs1554887213, rs1554887222	RCV003389267 RCV000508874 RCV000508905 RCV000508769 RCV000508920 RCV000508722 RCV000508820	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
mitochondrial hepatopathy	Likely pathogenic	rs1590018153, rs1451037596	RCV000855766 RCV000855768	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Perrault syndrome	Pathogenic	rs672601360, rs672601361	RCV002514865 RCV002516007	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Perrault syndrome 5	Pathogenic; Likely pathogenic	rs672601360, rs672601361, rs111033574	RCV000149471 RCV000149472 RCV002496262	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Possible mitochondrial disorder - nuclear genes	Pathogenic	rs111033576	RCV006436378	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	Pathogenic	rs111033574	RCV000855769	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	Likely pathogenic; Pathogenic	rs1159929268, rs2133939892, rs2493633263, rs111033572, rs111033573, rs111033574, rs111033575, rs111033576, rs111033577, rs28937887, rs111033579, rs80356543, rs267606682, rs757838397, rs1554887097, rs1554887213, rs758026634, rs1382829987	RCV004785286 RCV002250853 RCV000004879 RCV000004880 RCV000004881 RCV000004882 RCV000004883 RCV000004884 RCV000004885 RCV002288465 RCV000004887 RCV000004888 RCV000004892 RCV003123518 RCV004689760 RCV004787794 RCV000779014 RCV001253009	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic	Likely pathogenic; Pathogenic	rs28937887	RCV000004886	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	Likely pathogenic; Pathogenic	rs111033574, rs80356543	RCV002496262 RCV000020867	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Third degree atrioventricular block	Pathogenic	rs1253531908	RCV002305647	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TWNK-related disorder	Likely pathogenic	rs2493626854	RCV003314226	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Ataxia Neuropathy Spectrum Disorders	Conflicting classifications of pathogenicity; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal recessive cerebellar ataxia	Conflicting classifications of pathogenicity; Benign; Uncertain significance; Likely benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
BILATERAL PTOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLETE ATRIOVENTRICULAR BLOCK	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPLETION OF MITOCHONDRIAL DEOXYRIBONUCLEIC ACID	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSPHONIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GONADAL DYSGENESIS XX TYPE DEAFNESS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary spastic paraplegia	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial DNA depletion syndrome	Conflicting classifications of pathogenicity; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DNA DEPLETION SYNDROME 7	—	CTD, GWAS catalog, HPO CTD, GWAS catalog, HPO CTD, GWAS catalog, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DNA DEPLETION SYNDROME HEPATOCEREBRORENAL FORM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRORENAL FORM	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERRAULT SYNDROME 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERRAULT SYNDROME 3	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERRAULT SYNDROME 4	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERRAULT SYNDROME TYPE 1	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERRAULT SYNDROME TYPE 2	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Progressive external ophthalmoplegia with mitochondrial DNA deletions	Conflicting classifications of pathogenicity; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS OF BILATERAL EARS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORY ATAXIC NEUROPATHY-DYSARTHRIA-OPHTHALMOPARESIS SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA, HEREDITARY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
XX GONADAL DYSGENESIS-DEAFNESS SYNDROME-PROGRESSIVE NEUROLOGICAL MANIFESTATIONS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Alcoholic Neuropathy	Associate	24816431	★☆☆☆☆ Found in Text Mining only
Ataxia	Associate	31852434, 37932750	★☆☆☆☆ Found in Text Mining only
Atrophy	Associate	28178980	★☆☆☆☆ Found in Text Mining only
Auditory neuropathy	Associate	39340975	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Brain Stem Neoplasms	Associate	37316776	★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Associate	22233925	★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Associate	32234020	★☆☆☆☆ Found in Text Mining only
Deafness	Associate	32234020, 33095980	★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Associate	31852434	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Disease	Associate	25355836	★☆☆☆☆ Found in Text Mining only
Genetic Diseases Inborn	Associate	27226550, 28178980, 31455392, 31600844	★☆☆☆☆ Found in Text Mining only
Gonadal Disorders	Associate	31852434	★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis	Associate	31852434	★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis 46 XX	Associate	39529088	★☆☆☆☆ Found in Text Mining only
Gonadal dysgenesis XX type deafness	Associate	25355836, 28178980, 31455392, 31852434, 32234020, 37932750, 38295749, 39340975	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing Disorders	Associate	39684270	★☆☆☆☆ Found in Text Mining only
Hearing Loss	Associate	28178980, 31852434	★☆☆☆☆ Found in Text Mining only
Hepatic Encephalopathy	Associate	20659899, 31455392	★☆☆☆☆ Found in Text Mining only
Hypesthesia	Associate	32234020	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Associate	24816431	★☆☆☆☆ Found in Text Mining only
Kearns Sayre Syndrome	Associate	33396418	★☆☆☆☆ Found in Text Mining only
MERRF Syndrome	Associate	21689831	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Associate	20659899	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Encephalomyopathies	Associate	33396418	★☆☆☆☆ Found in Text Mining only
Mitochondrial Myopathy with a Defect in Mitochondrial Protein Transport	Associate	27226550	★☆☆☆☆ Found in Text Mining only
Muscle Weakness	Associate	31852434	★☆☆☆☆ Found in Text Mining only
Muscular Diseases	Associate	24816431	★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Associate	24014582	★☆☆☆☆ Found in Text Mining only
Myasthenic Syndromes Congenital	Associate	24014582	★☆☆☆☆ Found in Text Mining only
Nerve Degeneration	Associate	24816431	★☆☆☆☆ Found in Text Mining only
Ophthalmoplegia	Associate	20659899, 21689831, 24018892	★☆☆☆☆ Found in Text Mining only
Ophthalmoplegia Chronic Progressive External	Associate	18195150, 21301859, 21689831, 24014582, 24018892, 24086434, 32234020, 37316776	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Associate	1586592, 19654294, 27465688, 38114660	★☆☆☆☆ Found in Text Mining only
Paraparesis Spastic	Associate	31852434	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Associate	19788048, 35792653	★☆☆☆☆ Found in Text Mining only
Parkinson Disease Secondary	Associate	21301859, 35792653	★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Associate	24816431, 32234020	★☆☆☆☆ Found in Text Mining only
Polyneuropathies	Associate	24816431, 31852434	★☆☆☆☆ Found in Text Mining only
Pre Eclampsia	Associate	27788142	★☆☆☆☆ Found in Text Mining only
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions Autosomal Dominant 1	Associate	18989381, 20479361, 24018892, 31600844, 35792653	★☆☆☆☆ Found in Text Mining only
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions Autosomal Dominant 3	Associate	25355836	★☆☆☆☆ Found in Text Mining only
Ptosis Hereditary Congenital 2	Associate	21689831, 24018892, 35792653	★☆☆☆☆ Found in Text Mining only
Sensorimotor neuropathy with ataxia autosomal dominant	Associate	37932750	★☆☆☆☆ Found in Text Mining only
Sensory ataxic neuropathy dysarthria and ophthalmoparesis	Associate	33396418	★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxias	Associate	20659899, 24816431	★☆☆☆☆ Found in Text Mining only
Vestibulocochlear Nerve Diseases	Associate	28178980	★☆☆☆☆ Found in Text Mining only
Visceral myopathy familial external ophthalmoplegia	Associate	19667227, 20659899, 31455269, 36311265	★☆☆☆☆ Found in Text Mining only
Wallerian degeneration of the pyramidal tract	Associate	31852434	★☆☆☆☆ Found in Text Mining only