Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
MYASTHENIC SYNDROME, CONGENITAL, 10	254300	DOK7	Unknown	—	HPO	—
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	616326 C4225367	RAPSN	Unknown	—	Disgenet, HPO	—
MYASTHENIC SYNDROME, CONGENITAL, 12	C3552335 610542	FAT1	Unknown	—	Disgenet	—
		GFPT1	Unknown	—	Disgenet, HPO	Alanine, aspartate and glutamate metabolism Amino sugar and nucleotide sugar metabolism Metabolic pathways +6 more
		RYR1	Unknown	—	Disgenet	Calcium signaling pathway Apelin signaling pathway Circadian entrainment +7 more
MYASTHENIC SYNDROME, CONGENITAL, 13	614750 C3553645	DPAGT1	Unknown	—	Disgenet, HPO	N-Glycan biosynthesis Metabolic pathways Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein +1 more
MYASTHENIC SYNDROME, CONGENITAL, 14	616228 C4015597	ALG2	Unknown	—	Disgenet, HPO	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +2 more
MYASTHENIC SYNDROME, CONGENITAL, 15	616227 C4015596	ALG14	Unknown	—	Disgenet, HPO	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +2 more
MYASTHENIC SYNDROME, CONGENITAL, 16	C3280112 614198	RANBP2	Unknown	—	Disgenet	Nucleocytoplasmic transport Viral life cycle - HIV-1 Amyotrophic lateral sclerosis +32 more
MYASTHENIC SYNDROME, CONGENITAL, 16	C3280112 614198	SCN4A	Unknown	—	Disgenet, HPO	Phase 0 - rapid depolarisation
MYASTHENIC SYNDROME, CONGENITAL, 17	616304 C4225377	LRP4	Unknown	—	Disgenet, HPO	—
MYASTHENIC SYNDROME, CONGENITAL, 18	C4225364	SNAP25	Unknown	—	Disgenet	Synaptic vesicle cycle Insulin secretion Serotonin Neurotransmitter Release Cycle +10 more
MYASTHENIC SYNDROME, CONGENITAL, 19	616720 C4225235	COL13A1	Unknown	—	Disgenet, HPO	Protein digestion and absorption Collagen degradation Collagen biosynthesis and modifying enzymes +2 more
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL	C4084823 601462	CAST	Unknown	—	Disgenet	Shigellosis Degradation of the extracellular matrix Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL	C4084823 601462	CHRNA1	Unknown	—	Disgenet, HPO	Virion - Ebolavirus, Lyssavirus and Morbillivirus Neuroactive ligand-receptor interaction Highly calcium permeable postsynaptic nicotinic acetylcholine receptors +1 more
MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL	608930 C4225405 MONDO:0012156	CHRNA1	Causal	—	ClinVar, Disgenet, GenCC, HPO	Virion - Ebolavirus, Lyssavirus and Morbillivirus Neuroactive ligand-receptor interaction Highly calcium permeable postsynaptic nicotinic acetylcholine receptors +1 more
		C17ORF107	Unknown	—	Disgenet	—
		CHRNE	Unknown	—	Disgenet	Neuroactive ligand-receptor interaction Highly sodium permeable postsynaptic acetylcholine nicotinic receptors
MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC	C4310694 617143	SLC22A5	Unknown	—	Disgenet	Choline metabolism in cancer Carnitine metabolism Organic cation transport +1 more
MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC	C4310694 617143	SLC5A7	Unknown	—	Disgenet, HPO	Cholinergic synapse Choline metabolism in cancer Acetylcholine Neurotransmitter Release Cycle +2 more
MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC	C4310654 617239	CHAT	Unknown	—	Disgenet	Glycerophospholipid metabolism Cholinergic synapse Synthesis of PC +1 more
MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC	C4310654 617239	SLC18A3	Unknown	—	Disgenet, HPO	Synaptic vesicle cycle Cholinergic synapse Acetylcholine Neurotransmitter Release Cycle +2 more
MYASTHENIC SYNDROME, CONGENITAL, 22	616224 C4479088 MONDO:0044299	PREPL	Causal	24610330 28726805 29913539	ClinVar, Disgenet, HPO, Orphanet	—
MYASTHENIC SYNDROME, CONGENITAL, 22	616224 C4479088 MONDO:0044299	SLC3A1	Unknown	—	Disgenet	Protein digestion and absorption Amino acid transport across the plasma membrane Defective SLC3A1 causes cystinuria (CSNU) +1 more
MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC	618197 C4748678 MONDO:0032596	SLC25A1	Causal	—	ClinVar, Disgenet, GenCC, HPO	Gluconeogenesis Fatty acyl-CoA biosynthesis
MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC	618198 C4748684 MONDO:0032597	MYO9A	Causal	—	ClinVar, Disgenet, GenCC, HPO	Motor proteins Rho GTPase cycle
MYASTHENIC SYNDROME, CONGENITAL, 25, PRESYNAPTIC	618323 C5193027 MONDO:0032675	VAMP1	Causal	—	ClinVar, Disgenet, GenCC, HPO	SNARE interactions in vesicular transport Toxicity of botulinum toxin type D (BoNT/D) Toxicity of botulinum toxin type F (BoNT/F) +1 more
MYASTHENIC SYNDROME, CONGENITAL, 25, PRESYNAPTIC	618323 C5193027 MONDO:0032675	TAPBPL	Unknown	—	Disgenet	—
MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL	616313 C4225374	CHRNB1	Unknown	—	Disgenet, HPO	Neuroactive ligand-receptor interaction
MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	616314 C4225373	CHRNB1	Unknown	—	Disgenet, HPO	Neuroactive ligand-receptor interaction
MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL	616321 C4225372	CHRND	Unknown	—	Disgenet, HPO	Neuroactive ligand-receptor interaction Highly sodium permeable postsynaptic acetylcholine nicotinic receptors
MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL	616322 C4225371	CHRND	Unknown	—	Disgenet, HPO	Neuroactive ligand-receptor interaction Highly sodium permeable postsynaptic acetylcholine nicotinic receptors
MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	616323 C4225370	CHRND	Unknown	—	Disgenet, HPO	Neuroactive ligand-receptor interaction Highly sodium permeable postsynaptic acetylcholine nicotinic receptors
MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL	C4225413 605809	C17ORF107	Unknown	—	Disgenet	—
		CHRNE	Unknown	—	Disgenet, HPO	Neuroactive ligand-receptor interaction Highly sodium permeable postsynaptic acetylcholine nicotinic receptors
		MINK1	Unknown	—	Disgenet	Oxidative Stress Induced Senescence
MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL	C4225369 616324	C17ORF107	Unknown	—	Disgenet	—
		CHRNE	Unknown	—	Disgenet, HPO	Neuroactive ligand-receptor interaction Highly sodium permeable postsynaptic acetylcholine nicotinic receptors
		MINK1	Unknown	—	Disgenet	Oxidative Stress Induced Senescence
MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	608931	CHRNE	Unknown	—	HPO	Neuroactive ligand-receptor interaction Highly sodium permeable postsynaptic acetylcholine nicotinic receptors
	608931	GFPT1	Unknown	—	HPO	Alanine, aspartate and glutamate metabolism Amino sugar and nucleotide sugar metabolism Metabolic pathways +6 more
MYASTHENIC SYNDROME, CONGENITAL, 5	603034	COLQ	Unknown	—	HPO	—
MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC	254210	CHAT	Unknown	—	HPO	Glycerophospholipid metabolism Cholinergic synapse Synthesis of PC +1 more
MYASTHENIC SYNDROME, CONGENITAL, 7A, PRESYNAPTIC, AND DISTAL MOTOR NEUROPATHY, AUTOSOMAL DOMINANT	616040 C4015038	SYT2	Unknown	—	Disgenet, HPO	Toxicity of botulinum toxin type B (BoNT/B) Cargo recognition for clathrin-mediated endocytosis Clathrin-mediated endocytosis
MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE	619461 C5561947 MONDO:0030341	SYT2	Causal	25192047 30533528 32250532 32776697	ClinVar, Disgenet, GWAS catalog, HPO	Toxicity of botulinum toxin type B (BoNT/B) Cargo recognition for clathrin-mediated endocytosis Clathrin-mediated endocytosis
MYASTHENIC SYNDROME, CONGENITAL, 8	615120 C3808739	AGRN	Unknown	—	Disgenet, HPO	ECM-receptor interaction Cytoskeleton in muscle cells A tetrasaccharide linker sequence is required for GAG synthesis +9 more
MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	616325 C4225368	MUSK	Unknown	—	Disgenet, HPO	—
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	C1837091	ASL	Unknown	—	Disgenet	Arginine biosynthesis Alanine, aspartate and glutamate metabolism Metabolic pathways +2 more
		C17ORF107	Unknown	—	Disgenet	—
		CHAT	Unknown	—	Disgenet	Glycerophospholipid metabolism Cholinergic synapse Synthesis of PC +1 more
		CHRNB1	Unknown	—	Disgenet	Neuroactive ligand-receptor interaction
		CHRNE	Unknown	—	Disgenet	Neuroactive ligand-receptor interaction Highly sodium permeable postsynaptic acetylcholine nicotinic receptors
		GFPT1	Unknown	—	Disgenet	Alanine, aspartate and glutamate metabolism Amino sugar and nucleotide sugar metabolism Metabolic pathways +6 more
		MINK1	Unknown	—	Disgenet	Oxidative Stress Induced Senescence
		MUSK	Unknown	—	Disgenet	—
		RAPSN	Unknown	—	Disgenet	—
MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL	MESH:C563832	CHRNA1	Unknown	—	CTD	Virion - Ebolavirus, Lyssavirus and Morbillivirus Neuroactive ligand-receptor interaction Highly calcium permeable postsynaptic nicotinic acetylcholine receptors +1 more
		CHRND	Unknown	—	CTD	Neuroactive ligand-receptor interaction Highly sodium permeable postsynaptic acetylcholine nicotinic receptors
		CHRNE	Unknown	—	CTD	Neuroactive ligand-receptor interaction Highly sodium permeable postsynaptic acetylcholine nicotinic receptors
MYASTHENIC SYNDROME, CONGENITAL, POSTSYNAPTIC SLOW-CHANNEL	C2931107 MESH:C536091	C17ORF107	Unknown	—	Disgenet	—
		CHRNA1	Unknown	—	CTD, Disgenet	Virion - Ebolavirus, Lyssavirus and Morbillivirus Neuroactive ligand-receptor interaction Highly calcium permeable postsynaptic nicotinic acetylcholine receptors +1 more
		CHRNB1	Unknown	—	Disgenet	Neuroactive ligand-receptor interaction
		CHRNE	Unknown	—	Disgenet	Neuroactive ligand-receptor interaction Highly sodium permeable postsynaptic acetylcholine nicotinic receptors
		MINK1	Unknown	—	Disgenet	Oxidative Stress Induced Senescence
MYASTHENIC SYNDROME, CONGENITAL, TYPE ID	MESH:C536090	CHRNE	Unknown	—	CTD	Neuroactive ligand-receptor interaction Highly sodium permeable postsynaptic acetylcholine nicotinic receptors
		GFPT1	Unknown	—	CTD	Alanine, aspartate and glutamate metabolism Amino sugar and nucleotide sugar metabolism Metabolic pathways +6 more
		MUSK	Unknown	—	CTD	—
MYASTHENIC SYNDROME, CONGENITAL, WITH FACIAL DYSMORPHISM, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	MESH:C563829	CHRNB1	Unknown	—	CTD	Neuroactive ligand-receptor interaction
		CHRND	Unknown	—	CTD	Neuroactive ligand-receptor interaction Highly sodium permeable postsynaptic acetylcholine nicotinic receptors
		MUSK	Unknown	—	CTD	—
		RAPSN	Unknown	—	CTD	—
MYASTHENIC SYNDROMES, CONGENITAL	C0751882 MESH:D020294	AGRN	Unknown	—	CTD, Disgenet	ECM-receptor interaction Cytoskeleton in muscle cells A tetrasaccharide linker sequence is required for GAG synthesis +9 more
		ALG14	Unknown	—	CTD, Disgenet	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +2 more
		ALG2	Unknown	—	CTD, Disgenet	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +2 more
		C17ORF107	Unknown	—	Disgenet	—
		CHAT	Unknown	—	Disgenet	Glycerophospholipid metabolism Cholinergic synapse Synthesis of PC +1 more
		CHD8	Unknown	—	Disgenet	Wnt signaling pathway Deactivation of the beta-catenin transactivating complex
		CHRNA1	Unknown	—	Disgenet	Virion - Ebolavirus, Lyssavirus and Morbillivirus Neuroactive ligand-receptor interaction Highly calcium permeable postsynaptic nicotinic acetylcholine receptors +1 more
		CHRNB1	Unknown	—	CTD, Disgenet	Neuroactive ligand-receptor interaction
		CHRND	Unknown	—	CTD, Disgenet	Neuroactive ligand-receptor interaction Highly sodium permeable postsynaptic acetylcholine nicotinic receptors
		CHRNE	Unknown	—	Disgenet	Neuroactive ligand-receptor interaction Highly sodium permeable postsynaptic acetylcholine nicotinic receptors
		CHRNG	Unknown	16826520	CTD, Disgenet	Neuroactive ligand-receptor interaction Highly sodium permeable postsynaptic acetylcholine nicotinic receptors
		COL13A1	Unknown	—	CTD, Disgenet	Protein digestion and absorption Collagen degradation Collagen biosynthesis and modifying enzymes +2 more
		COLQ	Unknown	—	Disgenet	—
		DOK7	Unknown	—	Disgenet	—
		DPAGT1	Unknown	—	CTD, Disgenet	N-Glycan biosynthesis Metabolic pathways Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein +1 more
		GFPT1	Unknown	29905857	CTD, Disgenet	Alanine, aspartate and glutamate metabolism Amino sugar and nucleotide sugar metabolism Metabolic pathways +6 more
		GMPPB	Unknown	—	Disgenet	Fructose and mannose metabolism Amino sugar and nucleotide sugar metabolism Metabolic pathways +2 more
		LRP4	Unknown	—	CTD, Disgenet	—
		MINK1	Unknown	—	Disgenet	Oxidative Stress Induced Senescence
		MUSK	Unknown	—	Disgenet	—
		MYO9A	Unknown	—	Disgenet	Motor proteins Rho GTPase cycle
		PLEC	Unknown	—	Disgenet	Cytoskeleton in muscle cells Assembly of collagen fibrils and other multimeric structures Caspase-mediated cleavage of cytoskeletal proteins +1 more
		PREPL	Unknown	—	CTD, Disgenet	—
		RAPSN	Unknown	—	Disgenet	—
		RPH3A	Unknown	—	Disgenet	—
		RYR1	Unknown	—	Disgenet	Calcium signaling pathway Apelin signaling pathway Circadian entrainment +7 more
		SCN4A	Unknown	12766226	CTD, Disgenet	Phase 0 - rapid depolarisation
		SLC18A3	Unknown	—	CTD, Disgenet	Synaptic vesicle cycle Cholinergic synapse Acetylcholine Neurotransmitter Release Cycle +2 more
		SLC25A1	Unknown	—	Disgenet	Gluconeogenesis Fatty acyl-CoA biosynthesis
		SLC5A7	Unknown	—	CTD, Disgenet	Cholinergic synapse Choline metabolism in cancer Acetylcholine Neurotransmitter Release Cycle +2 more
		SNAP25	Unknown	—	CTD, Disgenet	Synaptic vesicle cycle Insulin secretion Serotonin Neurotransmitter Release Cycle +10 more
		SYT2	Unknown	—	CTD, Disgenet	Toxicity of botulinum toxin type B (BoNT/B) Cargo recognition for clathrin-mediated endocytosis Clathrin-mediated endocytosis
		TAPBPL	Unknown	—	Disgenet	—
		VAMP1	Unknown	—	Disgenet	SNARE interactions in vesicular transport Toxicity of botulinum toxin type D (BoNT/D) Toxicity of botulinum toxin type F (BoNT/F) +1 more
MYASTHENIC SYNDROMES, CONGENITAL, SLOW CHANNEL	C0751885	C17ORF107	Unknown	—	Disgenet	—
		CHRNA1	Unknown	—	Disgenet	Virion - Ebolavirus, Lyssavirus and Morbillivirus Neuroactive ligand-receptor interaction Highly calcium permeable postsynaptic nicotinic acetylcholine receptors +1 more
		CHRND	Unknown	—	Disgenet	Neuroactive ligand-receptor interaction Highly sodium permeable postsynaptic acetylcholine nicotinic receptors
		CHRNE	Unknown	—	Disgenet	Neuroactive ligand-receptor interaction Highly sodium permeable postsynaptic acetylcholine nicotinic receptors
		COLQ	Unknown	—	Disgenet	—

Myasthenic syndrome

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