Lethal congenital contracture syndrome
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| LETHAL CONGENITAL CONTRACTURE SYNDROME 1 | GLE1 | Causal | CTD, ClinVar, Disgenet, GWAS catalog, HPO | |||
| LETHAL CONGENITAL CONTRACTURE SYNDROME 11 | GLDN | Causal | — | CTD, ClinVar, Disgenet, GenCC, HPO | — | |
| LETHAL CONGENITAL CONTRACTURE SYNDROME 2 | ERBB3 | Causal | CTD, ClinVar, Disgenet, HPO | |||
| LETHAL CONGENITAL CONTRACTURE SYNDROME 3 | PIP5K1C | Causal | ClinGen, ClinVar, HPO | |||
| LETHAL CONGENITAL CONTRACTURE SYNDROME 7 | CNTNAP1 | Causal | CTD, ClinVar, Disgenet, HPO | |||
| LETHAL CONGENITAL CONTRACTURE SYNDROME 8 | ADCY6 | Causal | CTD, ClinVar, Disgenet, GWAS catalog, HPO | |||
| LETHAL CONGENITAL CONTRACTURE SYNDROME 9 | ADGRG6 | Causal | CTD, ClinVar, Disgenet, GWAS catalog, HPO |