Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
CHILDHOOD-ONSET NEMALINE MYOPATHY	171439 C0546125 MONDO:0015738	ACTA1	Unknown	—	Disgenet, GenCC, Orphanet	Motor proteins Cytoskeleton in muscle cells Striated Muscle Contraction
		KBTBD13	Unknown	20301465 21104864	Disgenet, GWAS catalog, Orphanet	Neddylation Antigen processing: Ubiquitination & Proteasome degradation
		KLHL41	Unknown	24268659	Disgenet, Orphanet	Neddylation Antigen processing: Ubiquitination & Proteasome degradation
		MYPN	Unknown	28017374	Disgenet, GWAS catalog, Orphanet	Cytoskeleton in muscle cells
		NEB	Unknown	—	Disgenet, GenCC, Orphanet	Cytoskeleton in muscle cells Striated Muscle Contraction
		TPM2	Unknown	23378224 23413262	Disgenet, Orphanet	Cardiac muscle contraction Adrenergic signaling in cardiomyocytes Motor proteins +5 more
		TPM3	Unknown	7704029	CTD, Disgenet, Orphanet	Cardiac muscle contraction Adrenergic signaling in cardiomyocytes Motor proteins +7 more
INTERMEDIATE NEMALINE MYOPATHY	171433 MONDO:0015736 C5680452	ACTA1	Unknown	—	GenCC, Orphanet, Disgenet	Motor proteins Cytoskeleton in muscle cells Striated Muscle Contraction
		KLHL41	Unknown	24268659	Disgenet, GWAS catalog, Orphanet	Neddylation Antigen processing: Ubiquitination & Proteasome degradation
		NEB	Unknown	—	GenCC, Orphanet, Disgenet	Cytoskeleton in muscle cells Striated Muscle Contraction
		TPM3	Unknown	18382475	GWAS catalog, Orphanet, Disgenet	Cardiac muscle contraction Adrenergic signaling in cardiomyocytes Motor proteins +7 more
MYOPATHIES, NEMALINE	C0206157	ACTA1	Unknown	—	Disgenet	Motor proteins Cytoskeleton in muscle cells Striated Muscle Contraction
		ANKRD1	Unknown	—	Disgenet	Cytoskeleton in muscle cells PPARA activates gene expression
		CFL2	Unknown	—	Disgenet	Axon guidance Fc gamma R-mediated phagocytosis Regulation of actin cytoskeleton +2 more
		FLNC	Unknown	—	Disgenet	Cytoskeleton in muscle cells Cell-extracellular matrix interactions
		KBTBD13	Unknown	—	Disgenet	Neddylation Antigen processing: Ubiquitination & Proteasome degradation
		KLHL41	Unknown	—	Disgenet	Neddylation Antigen processing: Ubiquitination & Proteasome degradation
		MYO18B	Unknown	—	Disgenet	Motor proteins
		MYPN	Unknown	—	Disgenet	Cytoskeleton in muscle cells
		NEB	Unknown	—	Disgenet	Cytoskeleton in muscle cells Striated Muscle Contraction
		RIF1	Unknown	—	Disgenet	Signaling pathways regulating pluripotency of stem cells Nonhomologous End-Joining (NHEJ)
		TNNT1	Unknown	—	Disgenet	Motor proteins Cytoskeleton in muscle cells Striated Muscle Contraction
		TNNT3	Unknown	—	Disgenet	Motor proteins Cytoskeleton in muscle cells Striated Muscle Contraction
		TPM2	Unknown	—	Disgenet	Cardiac muscle contraction Adrenergic signaling in cardiomyocytes Motor proteins +5 more
		TPM3	Unknown	—	Disgenet	Cardiac muscle contraction Adrenergic signaling in cardiomyocytes Motor proteins +7 more
nemaline myopathy	MONDO:0018958	TNNI1	Unknown	—	ClinGen	Motor proteins Cytoskeleton in muscle cells Striated Muscle Contraction
		TNNT1	Unknown	12732643 20529660 24445317 29178646 31970803 34440373 35510366 6746613	ClinGen, GWAS catalog	Motor proteins Cytoskeleton in muscle cells Striated Muscle Contraction
		TNNT3	Unknown	—	ClinGen, GenCC	Motor proteins Cytoskeleton in muscle cells Striated Muscle Contraction
NEMALINE MYOPATHY 1	C1836448 MESH:C538348	TPM3	Unknown	18300303	CTD, Disgenet	Cardiac muscle contraction Adrenergic signaling in cardiomyocytes Motor proteins +7 more
NEMALINE MYOPATHY 2	C1850569	RIF1	Unknown	—	Disgenet	Signaling pathways regulating pluripotency of stem cells Nonhomologous End-Joining (NHEJ)
NEMALINE MYOPATHY 4	C1836447 MESH:C538351	TPM2	Unknown	—	CTD, Disgenet	Cardiac muscle contraction Adrenergic signaling in cardiomyocytes Motor proteins +5 more
NEMALINE MYOPATHY 5A, AUTOSOMAL RECESSIVE, SEVERE INFANTILE	605355	TNNT1	Unknown	—	HPO	Motor proteins Cytoskeleton in muscle cells Striated Muscle Contraction
NEMALINE MYOPATHY 6	C1836472	MVK	Unknown	—	Disgenet	Terpenoid backbone biosynthesis Metabolic pathways Peroxisome +2 more
TYPICAL NEMALINE MYOPATHY	171436 C5680453 MONDO:0015737	ACTA1	Unknown	10508519	Disgenet, GenCC, Orphanet	Motor proteins Cytoskeleton in muscle cells Striated Muscle Contraction
		CFL2	Unknown	17160903	Disgenet, GWAS catalog, Orphanet	Axon guidance Fc gamma R-mediated phagocytosis Regulation of actin cytoskeleton +2 more
		KLHL41	Unknown	24268659	Disgenet, Orphanet	Neddylation Antigen processing: Ubiquitination & Proteasome degradation
		LMOD3	Unknown	25250574	Disgenet, GWAS catalog, Orphanet	Cytoskeleton in muscle cells
		NEB	Unknown	9359044	Disgenet, GenCC, Orphanet	Cytoskeleton in muscle cells Striated Muscle Contraction
		TPM2	Unknown	22749895 17846275 19155175 23413262	Disgenet, GenCC, Orphanet	Cardiac muscle contraction Adrenergic signaling in cardiomyocytes Motor proteins +5 more

Nemaline myopathy

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