Lethal congenital contracture syndrome
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| LETHAL CONGENITAL CONTRACTURAL SYNDROME 3 | MYBPC1 | Unknown | — | Disgenet | ||
| PIP5K1C | Unknown | — | CTD, Disgenet | |||
| LETHAL CONGENITAL CONTRACTURE SYNDROME | ADCY6 | Unknown | — | Disgenet | ||
| ADGRG6 | Unknown | — | Disgenet | |||
| CNTNAP1 | Unknown | — | Disgenet | |||
| DNM2 | Unknown | — | Disgenet | |||
| GLDN | Unknown | — | Disgenet | — | ||
| GLE1 | Unknown | — | Disgenet | |||
| NEK9 | Unknown | — | Disgenet | |||
| ZBTB42 | Unknown | — | Disgenet | — | ||
| LETHAL CONGENITAL CONTRACTURE SYNDROME 1 | ERBB3 | Unknown | — | Disgenet | ||
| LETHAL CONGENITAL CONTRACTURE SYNDROME 10 | NEK9 | Unknown | — | CTD, HPO | ||
| LETHAL CONGENITAL CONTRACTURE SYNDROME 3 | MYBPC1 | Unknown | GWAS catalog | |||
| LETHAL CONGENITAL CONTRACTURE SYNDROME 4 | MYBPC1 | Unknown | CTD, ClinVar, Disgenet, GenCC, HPO | |||
| LETHAL CONGENITAL CONTRACTURE SYNDROME 5 | DNM2 | Unknown | — | CTD, HPO | ||
| LETHAL CONGENITAL CONTRACTURE SYNDROME 6 | ZBTB42 | Unknown | CTD, ClinVar, Disgenet, GWAS catalog, HPO | — | ||
| LETHAL CONGENITAL CONTRACTURE SYNDROME 8 | SPMIP11 | Unknown | — | Disgenet | — | |
| LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 1 | GLE1 | Unknown | Orphanet | |||
| LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 2 | ERBB3 | Unknown | Orphanet | |||
| LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 3 | MYBPC1 | Unknown | Orphanet | |||
| PIP5K1C | Unknown | Orphanet | ||||
| LETHAL NEONATAL SPASTICITY, EPILEPTIC ENCEPHALOPATHY SYNDROME | BRAT1 | Unknown | — | Disgenet | — |