Nemaline myopathy
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| NEMALINE MYOPATHY 10 | LMOD3 | Causal | CTD, ClinGen, ClinVar, Disgenet, HPO | |||
| NEMALINE MYOPATHY 2 | ACTA1 | Causal | — | Disgenet | ||
| NEB | Causal | — | CTD, ClinGen, ClinVar, Disgenet, GenCC, HPO | |||
| NEMALINE MYOPATHY 5 | TNNT1 | Causal | CTD, ClinGen, ClinVar, Disgenet, GWAS catalog | |||
| NEMALINE MYOPATHY 5B, AUTOSOMAL RECESSIVE, CHILDHOOD-ONSET | TNNT1 | Causal | ClinVar, Disgenet, GWAS catalog, HPO | |||
| NEMALINE MYOPATHY 5C, AUTOSOMAL DOMINANT | TNNT1 | Causal | ClinVar, Disgenet, HPO, ClinGen | |||
| NEMALINE MYOPATHY 6 | KBTBD13 | Causal | CTD, ClinGen, ClinVar, Disgenet, GWAS catalog, HPO | |||
| NEMALINE MYOPATHY 7 | CFL2 | Causal | CTD, ClinGen, ClinVar, Disgenet, GWAS catalog, HPO | |||
| NEMALINE MYOPATHY 8 | KLHL40 | Causal | CTD, ClinGen, ClinVar, Disgenet, HPO | — | ||
| NEMALINE MYOPATHY 9 | KLHL41 | Causal | CTD, ClinGen, ClinVar, Disgenet, HPO |