Congenital muscular dystrophy
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| CONGENITAL MUSCULAR DYSTROPHY | CAPN3 | Causal | — | Disgenet | ||
| FKBP14 | Causal | — | Disgenet | |||
| LAMA2 | Causal | Disgenet | ||||
| LMNA | Causal | — | Disgenet | |||
| RYR1 | Causal | — | Disgenet | |||
| CONGENITAL MUSCULAR DYSTROPHY DUE TO INTEGRIN ALPHA-7 DEFICIENCY | ITGA7 | Causal | ClinVar, Disgenet | |||
| CONGENITAL MUSCULAR DYSTROPHY DUE TO LMNA MUTATION | LMNA | Causal | ClinVar, GenCC, Orphanet | |||
| CONGENITAL MUSCULAR DYSTROPHY WITH CATARACTS AND INTELLECTUAL DISABILITY | INPP5K | Causal | ClinVar, GWAS catalog | |||
| CONGENITAL MUSCULAR DYSTROPHY WITH INTELLECTUAL DISABILITY AND SEVERE EPILEPSY | DPM2 | Causal | ClinGen, ClinVar, Disgenet, Orphanet | |||
| CONGENITAL MUSCULAR DYSTROPHY-RESPIRATORY FAILURE-SKIN ABNORMALITIES-JOINT HYPERLAXITY SYNDROME | TRIP4 | Causal | ClinVar, Orphanet | — |