MYO9A (myosin IXA)

Gene

• Entrez ID: 4649
• Gene name: Myosin IXA
• Gene symbol: MYO9A
• Synonyms (NCBI Gene): CMS24
• Chromosome: 15
• Chromosome location: 15q23
• Summary: This gene encodes a member of the myosin superfamily. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). Unconventional myosins contain the basic domains of conventional myosins and

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs74022458	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs200246273	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant, genic upstream transcript variant
rs374155761	T>C	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs1567176190	C>T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT021993	hsa-miR-128-3p	Sequencing	20371350
MIRT027352	hsa-miR-101-3p	Sequencing	20371350
MIRT028717	hsa-miR-27a-3p	Sequencing	20371350
MIRT030828	hsa-miR-21-5p	Microarray	18591254
MIRT052604	hsa-let-7a-5p	CLASH	23622248
MIRT051864	hsa-let-7c-5p	CLASH	23622248
MIRT040450	hsa-miR-615-3p	CLASH	23622248
MIRT1170157	hsa-miR-105	CLIP-seq
MIRT1170158	hsa-miR-3664-3p	CLIP-seq
MIRT1170159	hsa-miR-3671	CLIP-seq
MIRT1170160	hsa-miR-4436a	CLIP-seq
MIRT1170161	hsa-miR-4659a-3p	CLIP-seq
MIRT1170162	hsa-miR-4659b-3p	CLIP-seq
MIRT1170163	hsa-miR-4712-3p	CLIP-seq
MIRT1170164	hsa-miR-607	CLIP-seq
MIRT1551555	hsa-miR-2355-5p	CLIP-seq
MIRT1170157	hsa-miR-105	CLIP-seq
MIRT1170159	hsa-miR-3671	CLIP-seq
MIRT1170161	hsa-miR-4659a-3p	CLIP-seq
MIRT1170162	hsa-miR-4659b-3p	CLIP-seq
MIRT1170164	hsa-miR-607	CLIP-seq
MIRT1170157	hsa-miR-105	CLIP-seq
MIRT2278105	hsa-miR-1184	CLIP-seq
MIRT2278106	hsa-miR-1205	CLIP-seq
MIRT2278107	hsa-miR-1207-3p	CLIP-seq
MIRT2278108	hsa-miR-124	CLIP-seq
MIRT2278109	hsa-miR-1286	CLIP-seq
MIRT2278110	hsa-miR-214	CLIP-seq
MIRT1551555	hsa-miR-2355-5p	CLIP-seq
MIRT2278111	hsa-miR-3065-3p	CLIP-seq
MIRT2278112	hsa-miR-3158-5p	CLIP-seq
MIRT2278113	hsa-miR-3160-5p	CLIP-seq
MIRT2278114	hsa-miR-3619-5p	CLIP-seq
MIRT1170159	hsa-miR-3671	CLIP-seq
MIRT2278115	hsa-miR-4291	CLIP-seq
MIRT2278116	hsa-miR-4459	CLIP-seq
MIRT2278117	hsa-miR-4530	CLIP-seq
MIRT1170161	hsa-miR-4659a-3p	CLIP-seq
MIRT1170162	hsa-miR-4659b-3p	CLIP-seq
MIRT2278118	hsa-miR-4690-5p	CLIP-seq
MIRT2278119	hsa-miR-4695-5p	CLIP-seq
MIRT2278120	hsa-miR-4722-5p	CLIP-seq
MIRT2278121	hsa-miR-506	CLIP-seq
MIRT2278122	hsa-miR-544	CLIP-seq
MIRT1170164	hsa-miR-607	CLIP-seq
MIRT2278123	hsa-miR-761	CLIP-seq
MIRT2278124	hsa-miR-767-5p	CLIP-seq
MIRT2278105	hsa-miR-1184	CLIP-seq
MIRT2278106	hsa-miR-1205	CLIP-seq
MIRT2278107	hsa-miR-1207-3p	CLIP-seq
MIRT2278108	hsa-miR-124	CLIP-seq
MIRT2278109	hsa-miR-1286	CLIP-seq
MIRT2576534	hsa-miR-1827	CLIP-seq
MIRT2278110	hsa-miR-214	CLIP-seq
MIRT2576535	hsa-miR-216a	CLIP-seq
MIRT1551555	hsa-miR-2355-5p	CLIP-seq
MIRT2278111	hsa-miR-3065-3p	CLIP-seq
MIRT2576536	hsa-miR-3119	CLIP-seq
MIRT2576537	hsa-miR-3149	CLIP-seq
MIRT2278112	hsa-miR-3158-5p	CLIP-seq
MIRT2278113	hsa-miR-3160-5p	CLIP-seq
MIRT2278114	hsa-miR-3619-5p	CLIP-seq
MIRT1170159	hsa-miR-3671	CLIP-seq
MIRT2278115	hsa-miR-4291	CLIP-seq
MIRT2278116	hsa-miR-4459	CLIP-seq
MIRT2278117	hsa-miR-4530	CLIP-seq
MIRT2576538	hsa-miR-4662a-5p	CLIP-seq
MIRT2278118	hsa-miR-4690-5p	CLIP-seq
MIRT2278119	hsa-miR-4695-5p	CLIP-seq
MIRT2278120	hsa-miR-4722-5p	CLIP-seq
MIRT2278121	hsa-miR-506	CLIP-seq
MIRT2278122	hsa-miR-544	CLIP-seq
MIRT2576539	hsa-miR-548c-3p	CLIP-seq
MIRT2576540	hsa-miR-568	CLIP-seq
MIRT2576541	hsa-miR-583	CLIP-seq
MIRT2576542	hsa-miR-605	CLIP-seq
MIRT1170164	hsa-miR-607	CLIP-seq
MIRT2278123	hsa-miR-761	CLIP-seq
MIRT2278124	hsa-miR-767-5p	CLIP-seq
MIRT2576543	hsa-miR-940	CLIP-seq
MIRT2278105	hsa-miR-1184	CLIP-seq
MIRT2278106	hsa-miR-1205	CLIP-seq
MIRT2278107	hsa-miR-1207-3p	CLIP-seq
MIRT2278108	hsa-miR-124	CLIP-seq
MIRT2278109	hsa-miR-1286	CLIP-seq
MIRT2576534	hsa-miR-1827	CLIP-seq
MIRT2278110	hsa-miR-214	CLIP-seq
MIRT2576535	hsa-miR-216a	CLIP-seq
MIRT1551555	hsa-miR-2355-5p	CLIP-seq
MIRT2278111	hsa-miR-3065-3p	CLIP-seq
MIRT2576536	hsa-miR-3119	CLIP-seq
MIRT2576537	hsa-miR-3149	CLIP-seq
MIRT2278112	hsa-miR-3158-5p	CLIP-seq
MIRT2278113	hsa-miR-3160-5p	CLIP-seq
MIRT2278114	hsa-miR-3619-5p	CLIP-seq
MIRT1170159	hsa-miR-3671	CLIP-seq
MIRT2278115	hsa-miR-4291	CLIP-seq
MIRT2685686	hsa-miR-4323	CLIP-seq
MIRT2278116	hsa-miR-4459	CLIP-seq
MIRT2278117	hsa-miR-4530	CLIP-seq
MIRT2576538	hsa-miR-4662a-5p	CLIP-seq
MIRT2278118	hsa-miR-4690-5p	CLIP-seq
MIRT2278119	hsa-miR-4695-5p	CLIP-seq
MIRT2278120	hsa-miR-4722-5p	CLIP-seq
MIRT2278121	hsa-miR-506	CLIP-seq
MIRT2278122	hsa-miR-544	CLIP-seq
MIRT2576539	hsa-miR-548c-3p	CLIP-seq
MIRT2576540	hsa-miR-568	CLIP-seq
MIRT2576541	hsa-miR-583	CLIP-seq
MIRT2576542	hsa-miR-605	CLIP-seq
MIRT1170164	hsa-miR-607	CLIP-seq
MIRT2278123	hsa-miR-761	CLIP-seq
MIRT2278124	hsa-miR-767-5p	CLIP-seq
MIRT2576543	hsa-miR-940	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000146	Function	Microfilament motor activity	IBA
GO:0000146	Function	Microfilament motor activity	IEA
GO:0000166	Function	Nucleotide binding	IEA
GO:0003774	Function	Cytoskeletal motor activity	IEA
GO:0003779	Function	Actin binding	IEA
GO:0005096	Function	GTPase activator activity	IEA
GO:0005096	Function	GTPase activator activity	TAS
GO:0005515	Function	Protein binding	IPI	15644318
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005884	Component	Actin filament	IBA
GO:0007165	Process	Signal transduction	IEA
GO:0007601	Process	Visual perception	TAS	10409426
GO:0008270	Function	Zinc ion binding	IEA
GO:0016020	Component	Membrane	IEA
GO:0016459	Component	Myosin complex	IEA
GO:0016461	Component	Unconventional myosin complex	NAS	8022818
GO:0030426	Component	Growth cone	IEA
GO:0034329	Process	Cell junction assembly	IMP	22891260
GO:0034330	Process	Cell junction organization	IEA
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0042995	Component	Cell projection	IEA
GO:0044295	Component	Axonal growth cone	IBA
GO:0044295	Component	Axonal growth cone	ISS
GO:0045198	Process	Establishment of epithelial cell apical/basal polarity	IBA
GO:0045198	Process	Establishment of epithelial cell apical/basal polarity	IMP	22891260
GO:0045202	Component	Synapse	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051015	Function	Actin filament binding	IBA
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	IEA
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	TAS
GO:0150011	Process	Regulation of neuron projection arborization	ISS

Other IDs

• MIM: 604875
• HGNC: 7608
• e!Ensembl: ENSG00000066933

Protein

• UniProt ID: B2RTY4
• Protein name: Unconventional myosin-IXa (Unconventional myosin-9a)
• Protein function: Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Regulates Rho by stimulating it's GTPase activity in neurons. Required for the regulation of neurite branching and motor neuro
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00788	RA	14 → 112	Ras association (RalGDS/AF-6) domain	Domain
  PF00063	Myosin_head	148 → 700	Myosin head (motor domain)	Domain
  PF00063	Myosin_head	827 → 1004	Myosin head (motor domain)	Domain
  PF00612	IQ	1043 → 1063	IQ calmodulin-binding motif	Motif
  PF00612	IQ	1075 → 1095	IQ calmodulin-binding motif	Motif
  PF00612	IQ	1116 → 1136	IQ calmodulin-binding motif	Motif
  PF00612	IQ	1139 → 1159	IQ calmodulin-binding motif	Motif
  PF00620	RhoGAP	2076 → 2226	RhoGAP domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Found to be expressed in testis and placenta and at lower levels in all the examined tissues with the exception of liver (PubMed:10409426). Isoform 5: Found in leukocytes but not in brain, retina or testis (PubMed:10409426). {ECO:00002
• Sequence:

  MNINDGGRRRFEDNEHTLRIYPGAISEGTIYCPIPARKNSTAAEVIESLINKLHLDKTKC
  YVLAEVKEFGGEEWILNPTDCPVQRMMLWPRMALENRLSGEDYRFLLREKNLDGSIHYGS
  LQSWLRVTEERRRMMERGFLPQPQQKDFDDLCSLPDLNEKTLLENLRNRFKHEKIYTYVG
  SILIVINPFKFLPIYNPKYVKMYDNHQLGKLEPHIYAVADVAYHAMLQRKKNQCIVISGE
  SGSGKTQSTNFLIHHLTALSQKGFASGVEQIILGAGPVLEAFGNAKTAHNNNSSRFGKFI
  QVNYQETGTVLGAYVEKYLLEKSRLVYQEHNERNYHVFYYLLAGASEDERSAFHLKQPEE
  YHYLNQITKKPLRQSWDDYCYDSEPDCFTVEGEDLRHDFERLQLAMEMVGFLPKTRRQIF
  SLLSAILHLGNICYKKKTYRDDSIDICNPEVLPIVSELLEVKEEMLFEALVTRKTVTVGE
  KLILPYKLAEAVTVRNSMAKSLYSALFDWIVFRINHALLNSKDLEHNTKTLSIGVLDIFG
  FEDYENNSFEQFCINFANERLQHYFNQHIFKLEQEEYRTEGISWHNIDYIDNTCCINLIS
  KKPTGLLHLLDEESNFPQATNQTLLDKFKHQHEDNSYIEFPAVMEPAFIIKHYAGKVKYG
  VKDFREKNTDHMRPDIVALLRSSKNAFISGMIGIDPVAVFRWAILRAFFRAMVAFREAGK
  RNIHRKTGHDDTAPCAILKSMDSFSFLQHPVHQRSLEILQRCKEEKYSITRKNPRTPLSD
  LQGMNALNEKNQHDTFDIAWNGRTGIRQSRLSSGTSLLDKDGIFANSTSSKLLERAHGIL
  TRNKNFKSKPALPKHLLEVNSLKHLTRLTLQDRITKSLLHLHKKKKPPSISAQFQASLSK
  LMETLGQAEPYFVKCIRSNAEKLPLRFSDVLVLRQLRYTGMLETVRIRQSGYSSKYSFQD
  FVSHFHVLLPRNIIPSKFNIQDFFRKINLNPDNYQVGKTMVFLKEQERQHLQDLLHQEVL
  RRIILLQRWFRVLLCRQHFLHLRQASVIIQRFWRNYLNQKQVRDAAVQKDAFVMASAAAL
  LQASWRAHLERQRYLELRAAAIVIQQKWRDYYRRRHMAAICIQARWKAYRESKRYQEQRK
  KIILLQSTCRGFRARQRFKALKEQRLRETKPEVGLVNIKGYGSLEIQGSDPSGWEDCSFD
  NRIKAIEECKSVIESNRISRESSVDCLKESPNKQQERAQSQSGVDLQEDVLVRERPRSLE
  DLHQKKVGRAKRESRRMRELEQAIFSLELLKVRSLGGISPSEDRRWSTELVPEGLQSPRG
  TPDSESSQGSLELLSYEESQKSKLESVISDEGDLQFPSPKISSSPKFDSRDNALSASNET
  SSAEHLKDGTMKEMVVCSSESITCKPQLKDSFISNSLPTFFYIPQQDPLKTNSQLDTSIQ
  RNKLLENEDTAGEALTLDINRETRRYHCSGKDQIVPSLNTESSNPVLKKLEKLNTEKEER
  QKQLQQQNEKEMMEQIRQQTDILEKERKAFKTIEKPRIGECLVAPSSYQSKQRVERPSSL
  LSLNTSNKGELNVLGSLSLKDAALAQKDSSSAHLPPKDRPVTVFFERKGSPCQSSTVKEL
  SKTDRMGTQLNVACKLSNNRISKREHFRPTQSYSHNSDDLSREGNARPIFFTPKDNMSIP
  LVSKEALNSKNPQLHKEDEPAWKPVKLAGPGQRETSQRFSSVDEQAKLHKTMSQGEITKL
  AVRQKASDSDIRPQRAKMRFWAKGKQGEKKTTRVKPTTQSEVSPLFAGTDVIPAHQFPDE
  LAAYHPTPPLSPELPGSCRKEFKENKEPSPKAKRKRSVKISNVALDSMHWQNDSVQIIAS
  VSDLKSMDEFLLKKVNDLDNEDSKKDTLVDVVFKKALKEFRQNIFSFYSSALAMDDGKSI
  RYKDLYALFEQILEKTMRLEQRDSLGESPVRVWVNTFKVFLDEYMNEFKTSDCTATKVPK
  TERKKRRKKETDLVEEHNGHIFKATQYSIPTYCEYCSSLIWIMDRASVCKLCKYACHKKC
  CLKTTAKCSKKYDPELSSRQFGVELSRLTSEDRTVPLVVEKLINYIEMHGLYTEGIYRKS
  GSTNKIKELRQGLDTDAESVNLDDYNIHVIASVFKQWLRDLPNPLMTFELYEEFLRAMGL
  QERKETIRGVYSVIDQLSRTHLNTLERLIFHLVRIALQEDTNRMSANALAIVFAPCILRC
  PDTTDPLQSVQDISKTTTCVELIVVEQMNKYKARLKDISSLEFAENKAKTRLSLIRRSMG
  KGRIRRGNYPGPSSPVVVRLPSVSDVSEETLTSEAAMETDITEQQQAAMQQEERVLTEQI
  ENLQKEKEELTFEMLVLEPRASDDETLESEASIGTADSSENLNMESEYAISEKSERSLAL
  SSLKTAGKSEPSSKLRKQLKKQQDSLDVVDSSVSSLCLSNTASSHGTRKLFQIYSKSPFY
  RAASGNEALGMEGPLGQTKFLEDKPQFISRGTFNPEKGKQKLKNVKNSPQKTKETPEGTV
  MSGRRKTVDPDCTSNQQLALFGNNEFMV

• Sequence length: 2548

Pathways

KEGG:

Motor proteins

Reactome:

Rho GTPase cycle

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
Myasthenic syndrome, congenital, 24, presynaptic	Likely pathogenic	rs2143524373	RCV002221817	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHROGRYPOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHROGRYPOSIS SYNDROME	—	ClinGen, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bronchiectasis	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGEN MYASTHENIC SYNDROMES PRESYNAPTIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Flexion contracture	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOCAL GLOMERULOSCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal segmental glomerulosclerosis	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROMES, CONGENITAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYO9A-related disorder	Benign; Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Presynaptic congenital myasthenic syndrome	Uncertain significance	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
PRESYNAPTIC CONGENITAL MYASTHENIC SYNDROMES	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	CLINGEN_DG	10409426, 22305756, 26752647, 9819351		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthrogryposis	Arthrogryposis multiplex congenita	GENOMICS_ENGLAND_DG	22305756		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthrogryposis	Arthrogryposis	Pubtator	26752647	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthrogryposis	Arthrogryposis multiplex congenita	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	BEFREE	10409426		★☆☆☆☆ Found in Text Mining only
Bardet-Biedl syndrome 4 (disorder)	Bardet-Biedl Syndrome	BEFREE	10409426		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bulbar palsy	Bulbar palsy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Dysplasia Of The Hip	Developmental dysplasia of the hip	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Myasthenic Syndromes, Presynaptic	Myasthenic Syndrome	ORPHANET_DG	27259756		★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Distal amyotrophy	Distal amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myasthenias	Myasthenia Gravis	HPO_DG			★☆☆☆☆ Found in Text Mining only
MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC	Myasthenic Syndrome	UNIPROT_DG	26752647, 27259756, 30237576		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC	Myasthenic Syndrome	GENOMICS_ENGLAND_DG	26752647		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myasthenic Syndromes, Congenital	Myasthenic Syndrome	BEFREE	27259756, 29462312		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oculomotor apraxia	Oculomotor apraxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oculovestibuloauditory syndrome	Oculovestibuloauditory Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polyneuropathy, Motor	Polyneuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Presynaptic congenital myasthenic syndromes	Myasthenic Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Central	Sleep Apnea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	30361512	Associate	★☆☆☆☆ Found in Text Mining only
Sudden episodic apnea	Sudden episodic apnea	HPO_DG			★☆☆☆☆ Found in Text Mining only