Gene table of NEB : nebulin

Gene-disease associations table

Disease ID	Disease name	Source of annotation with NEB	OMIM link	Number of associated genes	genes
PS161800	NEMALINE MYOPATHY	ClinVar, OMIM	link to OMIM	10	CFL2, TPM3, KLHL41, NEB, ACTA1, LMOD3, TNNT1, KBTBD13, TPM2, KLHL40
236750	HYDROPS FETALIS, NONIMMUNE	ClinVar	link to OMIM	11	MYOM1, NEU1, FZD6, DNAH14, NEB, THSD1, UBN1, CHRNA1, GALNT14, PIGC, GUSB

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Muscle contraction	R-HSA-397014	6.96
Striated Muscle Contraction	R-HSA-390522	7.81

Associated GO terms for Molecular function

GO term	GO ID	GO IC
cytoskeletal protein binding	GO:0008092	3.02
structural molecule activity	GO:0005198	3.1
actin binding	GO:0003779	3.74
structural constituent of muscle	GO:0008307	6.02
binding	GO:0005488	0.18
protein binding	GO:0005515	0.46