CHRND (cholinergic receptor nicotinic delta subunit)

Gene

• Entrez ID: 1144
• Gene name: Cholinergic receptor nicotinic delta subunit
• Gene symbol: CHRND
• Synonyms (NCBI Gene): ACHRD, CMS2A, CMS3A, CMS3B, CMS3C, FCCMS, SCCMS
• Chromosome: 2
• Chromosome location: 2q37.1
• Summary: The acetylcholine receptor of muscle has 5 subunits of 4 different types: 2 alpha and 1 each of beta, gamma and delta subunits. After acetylcholine binding, the receptor undergoes an extensive conformation change that affects all subunits and leads to ope

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs41265127	C>G	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs55868108	C>T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, 5 prime UTR variant
rs114463490	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, coding sequence variant, missense variant
rs121909502	C>T	Pathogenic	Coding sequence variant, missense variant
rs121909503	C>A,T	Pathogenic	Intron variant, coding sequence variant, missense variant
rs121909504	G>A	Pathogenic	Intron variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121909505	G>A,C	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant, intron variant, stop gained
rs121909506	T>C	Pathogenic	Synonymous variant, coding sequence variant, missense variant
rs121909507	C>T	Pathogenic	Stop gained, coding sequence variant
rs121909508	T>C	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs121909509	T>A,C	Pathogenic	Intron variant, 5 prime UTR variant, coding sequence variant, missense variant
rs142063328	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs145955590	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs199592458	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs373747090	A>G,T	Pathogenic	Coding sequence variant, missense variant
rs375623674	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs762875734	A>C	Likely-pathogenic	Splice acceptor variant
rs797044480	G>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant, 5 prime UTR variant
rs879255564	AG>-	Pathogenic	Coding sequence variant, splice donor variant, intron variant
rs1057518957	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1057518958	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1060499782	GA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1064795719	A>G	Likely-pathogenic	Splice acceptor variant
rs1553575435	AT>-	Uncertain-significance, likely-pathogenic	Frameshift variant, coding sequence variant
rs1574630583	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1574630951	->ATAC	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1574633904	C>T	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT892096	hsa-miR-1266	CLIP-seq
MIRT892097	hsa-miR-3127-5p	CLIP-seq
MIRT892098	hsa-miR-3918	CLIP-seq
MIRT892099	hsa-miR-4455	CLIP-seq
MIRT892100	hsa-miR-4481	CLIP-seq
MIRT892101	hsa-miR-4518	CLIP-seq
MIRT892102	hsa-miR-4745-5p	CLIP-seq
MIRT892103	hsa-miR-609	CLIP-seq
MIRT2447027	hsa-miR-149	CLIP-seq
MIRT2447027	hsa-miR-149	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003009	Process	Skeletal muscle contraction	IBA
GO:0003009	Process	Skeletal muscle contraction	IEA
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	TAS
GO:0005892	Component	Acetylcholine-gated channel complex	IBA
GO:0005892	Component	Acetylcholine-gated channel complex	IEA
GO:0005892	Component	Acetylcholine-gated channel complex	ISO
GO:0005892	Component	Acetylcholine-gated channel complex	NAS	15701510
GO:0005892	Component	Acetylcholine-gated channel complex	TAS	8872460
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006812	Process	Monoatomic cation transport	IEA
GO:0006936	Process	Muscle contraction	IEA
GO:0006936	Process	Muscle contraction	TAS	8872460
GO:0007165	Process	Signal transduction	TAS	8872460
GO:0007268	Process	Chemical synaptic transmission	IBA
GO:0007271	Process	Synaptic transmission, cholinergic	IEA
GO:0015276	Function	Ligand-gated monoatomic ion channel activity	IEA
GO:0015464	Function	Acetylcholine receptor activity	IBA
GO:0016020	Component	Membrane	IEA
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	ISS
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	TAS	8872460
GO:0031594	Component	Neuromuscular junction	IDA	11435464
GO:0031594	Component	Neuromuscular junction	IEA
GO:0031594	Component	Neuromuscular junction	IMP	11435464
GO:0034220	Process	Monoatomic ion transmembrane transport	IBA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0042166	Function	Acetylcholine binding	IEA
GO:0042391	Process	Regulation of membrane potential	IEA
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:0048630	Process	Skeletal muscle tissue growth	IMP	18252226
GO:0050881	Process	Musculoskeletal movement	IMP	18252226
GO:0050905	Process	Neuromuscular process	NAS	18252226
GO:0051899	Process	Membrane depolarization	IBA
GO:0060078	Process	Regulation of postsynaptic membrane potential	IEA
GO:0060079	Process	Excitatory postsynaptic potential	IEA
GO:0095500	Process	Acetylcholine receptor signaling pathway	IBA
GO:0095500	Process	Acetylcholine receptor signaling pathway	ISO
GO:0095500	Process	Acetylcholine receptor signaling pathway	NAS	21480901
GO:0099634	Component	Postsynaptic specialization membrane	IEA
GO:1904315	Function	Transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IDA	11435464
GO:1904315	Function	Transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IEA
GO:1904315	Function	Transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IMP	11435464

Other IDs

• MIM: 100720
• HGNC: 1965
• e!Ensembl: ENSG00000135902

Protein

• UniProt ID: Q07001
• Protein name: Acetylcholine receptor subunit delta
• Protein function: After binding acetylcholine, 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.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02931	Neur_chan_LBD	25 → 246	Neurotransmitter-gated ion-channel ligand binding domain	Family
  PF02932	Neur_chan_memb	253 → 489	Neurotransmitter-gated ion-channel transmembrane region	Family

• Sequence:

  MEGPVLTLGLLAALAVCGSWGLNEEERLIRHLFQEKGYNKELRPVAHKEESVDVALALTL
  SNLISLKEVEETLTTNVWIEHGWTDNRLKWNAEEFGNISVLRLPPDMVWLPEIVLENNND
  GSFQISYSCNVLVYHYGFVYWLPPAIFRSSCPISVTYFPFDWQNCSLKFSSLKYTAKEIT
  LSLKQDAKENRTYPVEWIIIDPEGFTENGEWEIVHRPARVNVDPRAPLDSPSRQDITFYL
  IIRRKPLFYIINILVPCVLISFMVNLVFYLPADSGEKTSVAISVLLAQSVFLLLISKRLP
  ATSMAIPLIGKFLLFGMVLVTMVVVICVIVLNIHFRTPSTHVLSEGVKKLFLETLPELLH
  MSRPAEDGPSPGALVRRSSSLGYISKAEEYFLLKSRSDLMFEKQSERHGLARRLTTARRP
  PASSEQAQQELFNELKPAVDGANFIVNHMRDQNNYNEEKDSWNRVARTVDRLCLFVVTPV
  MVVGTAWIFLQGVYNQPPPQPFPGDPYSYNVQDKRFI

• Sequence length: 517

Pathways

KEGG:

Neuroactive ligand-receptor interaction

Reactome:

Highly sodium permeable postsynaptic acetylcholine nicotinic 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
Arthrogryposis multiplex congenita	Likely pathogenic	rs1574630583	RCV000855459	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Breathing dysregulation	Likely pathogenic	rs1057518958, rs1057518957	RCV000415166 RCV000414846	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CHRND-related disorder	Likely pathogenic; Pathogenic	rs776218605, rs375623674	RCV005407835 RCV005871053	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital myasthenic syndrome 3A	Likely pathogenic; Pathogenic	rs121909502, rs121909505, rs55868108	RCV000020031 RCV005409603 RCV001332575	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital myasthenic syndrome 3B	Likely pathogenic; Pathogenic	rs2106208285, rs2106205676, rs1691699883, rs1223709952, rs121909503, rs121909504, rs879255564, rs121909505, rs121909508	RCV002227557 RCV002250909 RCV002290099 RCV003340624 RCV000020032 RCV000020034 RCV000020035 RCV002288514 RCV000020039	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital myasthenic syndrome 3C	Pathogenic; Likely pathogenic	rs121909505, rs762875734	RCV005409603 RCV003147550	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dyspnea	Likely pathogenic	rs1057518958, rs1057518957	RCV000415166 RCV000414846	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fetal akinesia deformation sequence 1	Likely pathogenic	rs1574630583	RCV000855459	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lethal multiple pterygium syndrome	Pathogenic; Likely pathogenic	rs1266948051, rs2106208285, rs1285705072, rs751237539, rs750174953, rs1691699883, rs1417363003, rs1223709952, rs764374927, rs775873824, rs1383559519, rs748559696, rs2469723376, rs2469718292, rs2469719176, rs2469712512, rs121909502, rs879255564, rs121909505, rs121909506, rs121909507, rs1060499782, rs55868108, rs1064795719, rs776218605, rs1574630951, rs762875734, rs375623674	RCV001389142 RCV002541179 RCV001998299 RCV002006966 RCV002012450 RCV005096068 RCV003068350 RCV003091557 RCV003084861 RCV002620845 RCV002604718 RCV002700636 RCV002861721 RCV003006250 RCV003047821 RCV003635159 RCV001218475 RCV001851959 RCV000020036 RCV000020037 RCV000020038 RCV000454340 RCV000805114 RCV005090961 RCV000642109 RCV000814112 RCV000799156 RCV000987056	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Muscle weakness	Likely pathogenic	rs1057518958, rs1057518957	RCV000415166 RCV000414846	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ptosis	Likely pathogenic	rs1057518958, rs1057518957	RCV000415166 RCV000414846	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Autosomal recessive multiple pterygium syndrome	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLEPHAROPTOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Centronuclear myopathy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Congenital myasthenic syndrome	Benign; Conflicting classifications of pathogenicity; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Myasthenic Syndrome, Dominant/Recessive	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	—	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, WITH FACIAL DYSMORPHISM, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROMES, CONGENITAL	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROMES, CONGENITAL, SLOW CHANNEL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARALYSIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PENA-SHOKEIR SYNDROME TYPE I	—	Disgenet	★★☆☆☆ 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
Slow-Channel Congenital Myasthenia Syndrome	Conflicting classifications of pathogenicity	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
Blepharoptosis	Ptosis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blepharoptosis	Ptosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ 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
Congenital Myasthenic Syndromes, Postsynaptic	Myasthenic Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Congenital Myasthenic Syndromes, Presynaptic	Myasthenic Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	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
Lambert-Eaton Myasthenic Syndrome	Lambert-Eaton Myasthenic Syndrome	BEFREE	29390429		★☆☆☆☆ Found in Text Mining only
Lethal multiple pterygium syndrome	Lethal Multiple Pterygium Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lymphangioma, Cystic	Cystic hygroma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE	Multiple Pterygium Syndrome	GENOMICS_ENGLAND_DG	16916845		★☆☆☆☆ Found in Text Mining only
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE	Multiple Pterygium Syndrome	CLINVAR_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	ORPHANET_DG	18252226		★☆☆☆☆ 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	BEFREE	14735155		★☆☆☆☆ Found in Text Mining only
Myasthenic Syndrome	Myasthenic Syndrome	BEFREE	29390429		★☆☆☆☆ Found in Text Mining only
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL	Myasthenic Syndrome	GENOMICS_ENGLAND_DG	11435464		★☆☆☆☆ Found in Text Mining only
MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL	Myasthenic Syndrome	GENOMICS_ENGLAND_DG	11435464, 11782989, 16916845		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL	Myasthenic Syndrome	UNIPROT_DG	11782989, 8872460		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL	Myasthenic Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL	Myasthenic Syndrome	GENOMICS_ENGLAND_DG	11435464, 16916845		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL	Myasthenic Syndrome	UNIPROT_DG	11435464, 12499478, 18398509		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL	Myasthenic Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	Myasthenic Syndrome, Congenital, Associated With Acetylcholine Receptor Deficiency	GENOMICS_ENGLAND_DG	11435464, 16916845		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	Myasthenic Syndrome, Congenital, Associated With Acetylcholine Receptor Deficiency	UNIPROT_DG	16916845, 18398509		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	Myasthenic Syndrome, Congenital, Associated With Acetylcholine Receptor Deficiency	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myasthenic Syndrome, Congenital, Fast-Channel	Myasthenic Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency	Myasthenic Syndrome, Congenital, With Facial Dysmorphism, Associated With Acetylcholine Receptor Deficiency	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myasthenic Syndromes Congenital	Myasthenic syndrome	Pubtator	29390429, 39913008	Associate	★☆☆☆☆ Found in Text Mining only
Myasthenic Syndromes, Congenital	Myasthenic Syndrome	GENOMICS_ENGLAND_DG	11782989		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myasthenic Syndromes, Congenital	Myasthenic Syndrome	BEFREE	18252226, 29390429		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myasthenic Syndromes, Congenital	Myasthenic Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myasthenic Syndromes, Congenital, Slow Channel	Myasthenic Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	26578207		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular disease	Pubtator	26578207	Associate	★☆☆☆☆ Found in Text Mining only
Oguchi disease	Oguchi disease	Pubtator	39913008	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	BEFREE	19261599		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pena-Shokeir syndrome type I	Pena Shokeir syndrome	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Postsynaptic congenital myasthenic syndromes	Myasthenic Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Respiratory Failure	Respiratory Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only