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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
Purine metabolism Metabolic pathways Endocrine resistance +63 more
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 —
All13 Causal7 Unknown13