CHRNA1 (cholinergic receptor nicotinic alpha 1 subunit)

Gene

• Entrez ID: 1134
• Gene name: Cholinergic receptor nicotinic alpha 1 subunit
• Gene symbol: CHRNA1
• Synonyms (NCBI Gene): ACHRA, ACHRD, CHRNA, CMS1A, CMS1B, CMS2A, FCCMS, SCCMS
• Chromosome: 2
• Chromosome location: 2q31.1
• Summary: The muscle acetylcholine receptor consiststs of 5 subunits of 4 different types: 2 alpha subunits and 1 each of the beta, gamma, and delta subunits. This gene encodes an alpha subunit that plays a role in acetlycholine binding/channel gating. Alternativel

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs137852798	G>A,C,T	Uncertain-significance, pathogenic	Synonymous variant, coding sequence variant, missense variant
rs137852799	C>A,G,T	Pathogenic	Coding sequence variant, missense variant
rs137852800	G>A	Pathogenic	Coding sequence variant, missense variant
rs137852801	C>T	Pathogenic	Coding sequence variant, missense variant
rs137852802	C>A	Pathogenic	Coding sequence variant, missense variant
rs137852803	C>A,G,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs137852804	C>T	Pathogenic	Coding sequence variant, missense variant
rs137852805	A>C	Pathogenic	Coding sequence variant, missense variant
rs137852806	A>G	Pathogenic	Coding sequence variant, missense variant
rs137852807	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs137852808	G>A,C	Pathogenic	Synonymous variant, coding sequence variant, missense variant
rs137852809	C>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs141733086	G>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs149292107	A>G,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs150638770	G>A,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, missense variant, coding sequence variant
rs199470445	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs374391312	G>A,C	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs483353046	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs545520806	G>A	Likely-pathogenic	Synonymous variant, coding sequence variant
rs750329103	G>A	Pathogenic	Coding sequence variant, stop gained
rs768407867	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs886043372	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs1064793397	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1064795046	C>T	Likely-pathogenic	Splice acceptor variant
rs1131691893	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1291364532	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1553469070	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1574007436	TT>-	Likely-pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT891681	hsa-miR-3646	CLIP-seq
MIRT891682	hsa-miR-875-3p	CLIP-seq
MIRT2200384	hsa-miR-3922-5p	CLIP-seq
MIRT2200385	hsa-miR-4753-5p	CLIP-seq
MIRT2447005	hsa-miR-3194-3p	CLIP-seq
MIRT2447006	hsa-miR-4490	CLIP-seq
MIRT2447007	hsa-miR-4774-5p	CLIP-seq
MIRT2447008	hsa-miR-767-3p	CLIP-seq
MIRT2447009	hsa-miR-938	CLIP-seq
MIRT2447010	hsa-miR-942	CLIP-seq
MIRT2447005	hsa-miR-3194-3p	CLIP-seq
MIRT2447006	hsa-miR-4490	CLIP-seq
MIRT2447007	hsa-miR-4774-5p	CLIP-seq
MIRT2447008	hsa-miR-767-3p	CLIP-seq
MIRT2447009	hsa-miR-938	CLIP-seq
MIRT2447010	hsa-miR-942	CLIP-seq
MIRT2447005	hsa-miR-3194-3p	CLIP-seq
MIRT2447006	hsa-miR-4490	CLIP-seq
MIRT2447007	hsa-miR-4774-5p	CLIP-seq
MIRT2447008	hsa-miR-767-3p	CLIP-seq
MIRT2447009	hsa-miR-938	CLIP-seq
MIRT2447010	hsa-miR-942	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
AIRE	Unknown	17687331

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003009	Process	Skeletal muscle contraction	IBA
GO:0003009	Process	Skeletal muscle contraction	IEA
GO:0003009	Process	Skeletal muscle contraction	IMP	8872460
GO:0004888	Function	Transmembrane signaling receptor activity	IEA
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005230	Function	Extracellular ligand-gated monoatomic ion channel activity	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS	8872460
GO:0005886	Component	Plasma membrane	TAS
GO:0005892	Component	Acetylcholine-gated channel complex	IBA
GO:0005892	Component	Acetylcholine-gated channel complex	IEA
GO:0005892	Component	Acetylcholine-gated channel complex	ISS	8872460
GO:0005892	Component	Acetylcholine-gated channel complex	TAS	7619526
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006812	Process	Monoatomic cation transport	IEA
GO:0007271	Process	Synaptic transmission, cholinergic	IBA
GO:0007274	Process	Neuromuscular synaptic transmission	IBA
GO:0007274	Process	Neuromuscular synaptic transmission	IMP	9221765
GO:0007528	Process	Neuromuscular junction development	IMP	9221765
GO:0009986	Component	Cell surface	IDA	12928480
GO:0009986	Component	Cell surface	IEA
GO:0015464	Function	Acetylcholine receptor activity	IBA
GO:0015464	Function	Acetylcholine receptor activity	IEA
GO:0015464	Function	Acetylcholine receptor activity	ISS	8872460
GO:0015464	Function	Acetylcholine receptor activity	TAS	7619526
GO:0016020	Component	Membrane	IEA
GO:0019228	Process	Neuronal action potential	IMP	8872460
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	IBA
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	IEA
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	IEA
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	IMP	9221765
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	ISS	8872460
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	TAS	7619526
GO:0031594	Component	Neuromuscular junction	IDA	9221765
GO:0031594	Component	Neuromuscular junction	IDA	9221765
GO:0031594	Component	Neuromuscular junction	IEA
GO:0031594	Component	Neuromuscular junction	IMP	9221765
GO:0031594	Component	Neuromuscular junction	ISS	8872460
GO:0034220	Process	Monoatomic ion transmembrane transport	IBA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0035094	Process	Response to nicotine	IBA
GO:0042166	Function	Acetylcholine binding	IEA
GO:0042166	Function	Acetylcholine binding	ISS	8872460
GO:0042391	Process	Regulation of membrane potential	IEA
GO:0042391	Process	Regulation of membrane potential	IEA
GO:0042391	Process	Regulation of membrane potential	IMP	9221765
GO:0042391	Process	Regulation of membrane potential	IMP	8872460
GO:0043005	Component	Neuron projection	IBA
GO:0045202	Component	Synapse	IBA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0045211	Component	Postsynaptic membrane	NAS	18252226
GO:0046716	Process	Muscle cell cellular homeostasis	IMP	8872460
GO:0048630	Process	Skeletal muscle tissue growth	IMP	18252226
GO:0050881	Process	Musculoskeletal movement	IMP	18252226
GO:0050905	Process	Neuromuscular process	IMP	9546329
GO:0051899	Process	Membrane depolarization	IBA
GO:0060078	Process	Regulation of postsynaptic membrane potential	IEA
GO:0060079	Process	Excitatory postsynaptic potential	IEA
GO:0070050	Process	Neuron cellular homeostasis	IMP	8872460
GO:0095500	Process	Acetylcholine receptor signaling pathway	IBA
GO:0098793	Component	Presynapse	IEA
GO:0099171	Process	Presynaptic modulation of chemical synaptic transmission	IBA
GO:0099634	Component	Postsynaptic specialization membrane	IEA
GO:1904315	Function	Transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IDA	9221765
GO:1904315	Function	Transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IMP	9221765

Other IDs

• MIM: 100690
• HGNC: 1955
• e!Ensembl: ENSG00000138435

Protein

• UniProt ID: P02708
• Protein name: Acetylcholine receptor subunit alpha
• Protein function: [Isoform 1]: Upon acetylcholine binding, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. ; [
• PDB: 4ZJS, 5HBT
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02931	Neur_chan_LBD	24 → 79	Neurotransmitter-gated ion-channel ligand binding domain	Family
  PF02931	Neur_chan_LBD	97 → 256	Neurotransmitter-gated ion-channel ligand binding domain	Family
  PF02932	Neur_chan_memb	263 → 403	Neurotransmitter-gated ion-channel transmembrane region	Family
  PF02932	Neur_chan_memb	394 → 471	Neurotransmitter-gated ion-channel transmembrane region	Family

• Tissue specificity: TISSUE SPECIFICITY: Isoform 1 is only expressed in skeletal muscle. Isoform 2 is constitutively expressed in skeletal muscle, brain, heart, kidney, liver, lung and thymus.
• Sequence:

  MEPWPLLLLFSLCSAGLVLGSEHETRLVAKLFKDYSSVVRPVEDHRQVVEVTVGLQLIQL
  INVDEVNQIVTTNVRLKQGDMVDLPRPSCVTLGVPLFSHLQNEQWVDYNLKWNPDDYGGV
  KKIHIPSEKIWRPDLVLYNNADGDFAIVKFTKVLLQYTGHITWTPPAIFKSYCEIIVTHF
  PFDEQNCSMKLGTWTYDGSVVAINPESDQPDLSNFMESGEWVIKESRGWKHSVTYSCCPD
  TPYLDITYHFVMQRLPLYFIVNVIIPCLLFSFLTGLVFYLPTDSGEKMTLSISVLLSLTV
  FLLVIVELIPSTSSAVPLIGKYMLFTMVFVIASIIITVIVINTHHRSPSTHVMPNWVRKV
  FIDTIPNIMFFSTMKRPSREKQDKKIFTEDIDISDISGKPGPPPMGFHSPLIKHPEVKSA
  IEGIKYIAETMKSDQESNNAAAEWKYVAMVMDHILLGVFMLVCIIGTLAVFAGRLIELNQ
  QG

• Sequence length: 482

Pathways

KEGG:

Virion - Ebolavirus, Lyssavirus and Morbillivirus
Neuroactive ligand-receptor interaction

Reactome:

Highly calcium permeable postsynaptic nicotinic acetylcholine receptors
Highly calcium permeable nicotinic acetylcholine receptors

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
Autism	Likely pathogenic; Pathogenic	rs768407867	RCV000679850	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Centronuclear myopathy	Likely pathogenic; Pathogenic	rs768407867	RCV004586756	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital myasthenic syndrome	Likely pathogenic; Pathogenic	rs1574007436	RCV000825633	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital myasthenic syndrome 1A	Likely pathogenic; Pathogenic	rs2105350715, rs137852798, rs137852800, rs137852801, rs137852802, rs137852808, rs1064793397	RCV004813177 RCV000020044 RCV000020046 RCV000020047 RCV000020048 RCV000020055 RCV002496853	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital myopathy	Likely pathogenic; Pathogenic	rs137852801	RCV004586016	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lethal multiple pterygium syndrome	Pathogenic; Likely pathogenic	rs753250273, rs2105350715, rs1684009556, rs199470442, rs2468895247, rs1574011727, rs768863116, rs1457407106, rs137852801, rs137852805, rs1684052200, rs374391312, rs1064793397, rs750329103, rs768407867, rs137852798, rs1574007436, rs1683929269, rs771260711, rs1208011631	RCV001384441 RCV001533178 RCV001934247 RCV003110599 RCV003043768 RCV003317980 RCV003518162 RCV003517021 RCV000556947 RCV003517130 RCV000020057 RCV000803477 RCV001383195 RCV003114619 RCV000542688 RCV000534544 RCV005253650 RCV001070130 RCV001036947 RCV001229186 RCV003516662	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Myasthenic syndrome, congenital, 1B, fast-channel	Likely pathogenic; Pathogenic	rs137852801, rs137852804, rs137852805, rs137852806, rs137852807, rs1477401624, rs2105350984, rs374391312, rs1064793397	RCV005409604 RCV000020050 RCV000020051 RCV000020052 RCV000020053 RCV000020054 RCV000022417 RCV000022418 RCV002496853	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Non-immune hydrops fetalis	Likely pathogenic	rs545520806	RCV000170571	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Likely pathogenic; Pathogenic	rs768407867	RCV000679850	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Slow-Channel Congenital Myasthenia Syndrome	Pathogenic	rs483353046	RCV000122732	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTISTIC DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal recessive multiple pterygium syndrome	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRNA1-Related Congenital Myasthenic Syndrome	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRNA1-related disorder	Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Myasthenic Syndrome, Dominant/Recessive	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Fetal ascites	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hydrops fetalis	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYDROPS FETALIS, NON-IMMUNE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNE SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Juvenile myoclonic epilepsy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LATE-ONSET MYASTHENIA GRAVIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIA GRAVIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, POSTSYNAPTIC SLOW-CHANNEL	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROMES, CONGENITAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROMES, CONGENITAL, SLOW CHANNEL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pleural effusion	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POSTSYNAPTIC CONGEN MYASTHENIC SYNDROMES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POSTSYNAPTIC CONGENITAL MYASTHENIC SYNDROME	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Akinesia	Akinesia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aplasia of muscle	Aplasia Of Muscle	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
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
Carcinoma of lung	Lung carcinoma	BEFREE	19005185, 19010884, 20234319, 23094028, 23232035		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	22176972, 23255854		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	CTD_human_DG	19690163		★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	37055577	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gross motor development delay	Developmental delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis, Non-Immune	Hydrops Fetalis	CLINVAR_DG	26036949		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lethal multiple pterygium syndrome	Lethal Multiple Pterygium Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	20234319, 23094028, 23232035	Associate	★☆☆☆☆ Found in Text Mining only
Lymphangioma, Cystic	Cystic hygroma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	19005185, 19010884, 20234319, 23094028, 23232035		★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE	Multiple Pterygium Syndrome	ORPHANET_DG	18252226		★☆☆☆☆ Found in Text Mining only
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE	Multiple Pterygium Syndrome	UNIPROT_DG	18252226		★☆☆☆☆ Found in Text Mining only
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE	Multiple Pterygium Syndrome	CLINVAR_DG	24121633, 27748205, 6287911, 7619526, 9158151		★☆☆☆☆ Found in Text Mining only
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE	Multiple Pterygium Syndrome	GENOMICS_ENGLAND_DG	30177536		★☆☆☆☆ Found in Text Mining only
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE	Multiple Pterygium Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia gravis	Pubtator	10227809, 15627975, 16891216, 1979338, 2564730, 35074870, 7910962, 8827715	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myasthenia Gravis	Myasthenia Gravis	BEFREE	10628675, 1995332, 24376846, 25595248, 27501803, 8738961, 9237805		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myasthenias	Myasthenia Gravis	HPO_DG			★☆☆☆☆ Found in Text Mining only
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL	Myasthenic Syndrome	GENOMICS_ENGLAND_DG	15079006		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL	Myasthenic Syndrome	UNIPROT_DG	16685696, 7619526, 8872460, 9158151, 9221765		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL	Myasthenic Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL	Myasthenic Syndrome	UNIPROT_DG	10195214, 12588888, 15079006		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL	Myasthenic Syndrome	GENOMICS_ENGLAND_DG	15079006		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL	Myasthenic Syndrome	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Myasthenic Syndrome, Congenital, Fast-Channel	Myasthenic Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myasthenic syndrome, congenital, postsynaptic slow-channel	Myasthenic Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myasthenic Syndromes Congenital	Myasthenic syndrome	Pubtator	12588888, 15731194, 19147685, 20562457, 21316238, 22728938, 31570625, 33216040, 33652901, 35466948	Associate	★☆☆☆☆ Found in Text Mining only
Myasthenic Syndromes, Congenital	Myasthenic Syndrome	LHGDN	15079006		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myasthenic Syndromes, Congenital	Myasthenic Syndrome	BEFREE	15731194, 18806275, 19147685, 25159927, 25264167, 25888793, 31570625		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neonatal Hypotonia	Hypotonia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	26575950		★☆☆☆☆ Found in Text Mining only
Ophthalmoplegia	Ophthalmoplegia	Pubtator	21316238	Associate	★☆☆☆☆ Found in Text Mining only
Pena Shokeir syndrome type 1	Pena-shokeir syndrome	Pubtator	25537362	Associate	★☆☆☆☆ Found in Text Mining only
Pena-Shokeir syndrome type I	Pena Shokeir syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Postsynaptic congenital myasthenic syndromes	Myasthenic Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	31342675		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	31342675	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	31547418		★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	BEFREE	17590173, 1995332		★☆☆☆☆ Found in Text Mining only