Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
CHILDHOOD-ONSET NEMALINE MYOPATHY	171439 C0546125 MONDO:0015738	ACTA1	Unknown	—	Disgenet GenCC Orphanet
		KBTBD13	Unknown	20301465 21104864	Disgenet GWAS catalog Orphanet
		KLHL41	Unknown	24268659	Disgenet Orphanet
		MYPN	Unknown	28017374	Disgenet GWAS catalog Orphanet
		NEB	Unknown	—	Disgenet GenCC Orphanet
		TPM2	Unknown	23378224 23413262	Disgenet Orphanet
		TPM3	Unknown	7704029	CTD Disgenet Orphanet
INTERMEDIATE NEMALINE MYOPATHY	C5680452 171433 MONDO:0015736	ACTA1	Unknown	—	Disgenet
		KLHL41	Unknown	24268659	Disgenet
		NEB	Unknown	—	Disgenet
		TPM3	Unknown	18382475	GWAS catalog Orphanet
MYOPATHIES, NEMALINE	C0206157	ACTA1	Unknown	—	Disgenet
		ANKRD1	Unknown	—	Disgenet
		CFL2	Unknown	—	Disgenet
		FLNC	Unknown	—	Disgenet
		KBTBD13	Unknown	—	Disgenet
		KLHL41	Unknown	—	Disgenet
		MYO18B	Unknown	—	Disgenet
		MYPN	Unknown	—	Disgenet
		NEB	Unknown	—	Disgenet
		RIF1	Unknown	—	Disgenet
		TNNT1	Unknown	—	Disgenet
		TNNT3	Unknown	—	Disgenet
		TPM2	Unknown	—	Disgenet
		TPM3	Unknown	—	Disgenet
NEMALINE MYOPATHY	MONDO:0018958	TNNT1	Unknown	12732643 20529660 24445317 29178646 31970803 34440373 35510366 6746613	ClinGen GWAS catalog
NEMALINE MYOPATHY	MONDO:0018958	TNNT3	Unknown	—	ClinGen GenCC
NEMALINE MYOPATHY 1	C1836448 MESH:C538348	TPM3	Unknown	—	CTD Disgenet
NEMALINE MYOPATHY 10	616165 C4015360 MONDO:0014513 OMIM:616165	LMOD3	Causal	29331079 28815944 30291184 31572445 30642739 25250574 32008911	CTD ClinGen ClinVar Disgenet HPO
NEMALINE MYOPATHY 2	C1850569 256030 MESH:C538349 MONDO:0009725	ACTA1	Causal	—	Disgenet
		NEB	Causal	—	CTD ClinGen ClinVar Disgenet GenCC HPO
		RIF1	Unknown	—	Disgenet
NEMALINE MYOPATHY 4	C1836447 MESH:C538351	TPM2	Unknown	—	CTD Disgenet
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
NEMALINE MYOPATHY 5A, AUTOSOMAL RECESSIVE, SEVERE INFANTILE	605355	TNNT1	Unknown	—	HPO
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
NEMALINE MYOPATHY 5C, AUTOSOMAL DOMINANT	620389 C5830549 MONDO:0957284	TNNT1	Causal	29178646	ClinVar Disgenet HPO
NEMALINE MYOPATHY 6	609273 C1836472 MESH:C538398 MONDO:0012237	KBTBD13	Causal	21104864 21109227 12805120	CTD ClinGen ClinVar Disgenet GWAS catalog HPO
NEMALINE MYOPATHY 6	609273 C1836472 MESH:C538398 MONDO:0012237	MVK	Unknown	—	Disgenet
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
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
TYPICAL NEMALINE MYOPATHY	171436 C5680453 MONDO:0015737	ACTA1	Unknown	—	Disgenet GenCC Orphanet
		CFL2	Unknown	17160903	Disgenet GWAS catalog Orphanet
		KLHL41	Unknown	24268659	Disgenet Orphanet
		LMOD3	Unknown	25250574	Disgenet GWAS catalog Orphanet

Nemaline myopathy