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	GWAS catalog, Orphanet, Disgenet	Neddylation Antigen processing: Ubiquitination & Proteasome degradation
		NEB	Unknown	—	GenCC, Orphanet, Disgenet	Cytoskeleton in muscle cells Striated Muscle Contraction
		TPM3	Unknown	18382475	Disgenet, GWAS catalog, Orphanet	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 10	616165 C4015360 MONDO:0014513 OMIM:616165	LMOD3	Causal	29331079 28815944 30291184 31572445 30642739 25250574 32008911	CTD, ClinGen, ClinVar, Disgenet, HPO	Cytoskeleton in muscle cells
NEMALINE MYOPATHY 2	C1850569 256030 MESH:C538349 MONDO:0009725	ACTA1	Causal	—	Disgenet	Motor proteins Cytoskeleton in muscle cells Striated Muscle Contraction
		NEB	Causal	—	CTD, ClinGen, ClinVar, Disgenet, GenCC, HPO	Cytoskeleton in muscle cells Striated Muscle Contraction
		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 5	C1854380 MESH:C538397 MONDO:0011539	TNNT1	Causal	10952871 12732643 15665378 24445317 24689076 25430424 26296490 29792937 31604653 31970803 6746613	CTD, ClinGen, ClinVar, Disgenet, GWAS catalog	Motor proteins Cytoskeleton in muscle cells Striated Muscle Contraction
NEMALINE MYOPATHY 5A, AUTOSOMAL RECESSIVE, SEVERE INFANTILE	605355	TNNT1	Unknown	—	HPO	Motor proteins Cytoskeleton in muscle cells Striated Muscle Contraction
NEMALINE MYOPATHY 5B, AUTOSOMAL RECESSIVE, CHILDHOOD-ONSET	620386 C5830545 MONDO:0957281	TNNT1	Causal	10952871 29178646 29931346 31604653 31970803 32819427 32994279 35510366	ClinVar, Disgenet, GWAS catalog, HPO	Motor proteins Cytoskeleton in muscle cells Striated Muscle Contraction
NEMALINE MYOPATHY 5C, AUTOSOMAL DOMINANT	620389 C5830549 MONDO:0957284	TNNT1	Causal	29178646	ClinVar, Disgenet, HPO, ClinGen	Motor proteins Cytoskeleton in muscle cells Striated Muscle Contraction
NEMALINE MYOPATHY 6	609273 C1836472 MESH:C538398 MONDO:0012237	KBTBD13	Causal	21104864 21109227 12805120	CTD, ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	Neddylation Antigen processing: Ubiquitination & Proteasome degradation
NEMALINE MYOPATHY 6	609273 C1836472 MESH:C538398 MONDO:0012237	MVK	Unknown	—	Disgenet	Terpenoid backbone biosynthesis Metabolic pathways Peroxisome +2 more
NEMALINE MYOPATHY 7	610687 C1853154 MESH:C565198 MONDO:0012538	CFL2	Causal	11422377 17160903 22343409 22560515 24598388 24610938 26996939 27447704 27848944 29457652	CTD, ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	Axon guidance Fc gamma R-mediated phagocytosis Regulation of actin cytoskeleton +2 more
NEMALINE MYOPATHY 8	615348 C3809209 MONDO:0014138 OMIM:615348	KLHL40	Causal	23746549	CTD, ClinGen, ClinVar, Disgenet, HPO	—
NEMALINE MYOPATHY 9	615731 C3810384 MONDO:0014326 OMIM:615731	KLHL41	Causal	24268659	CTD, ClinGen, ClinVar, Disgenet, HPO	Neddylation Antigen processing: Ubiquitination & Proteasome degradation
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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