Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
LETHAL CONGENITAL CONTRACTURAL SYNDROME 3	C1969655 MESH:C566961	MYBPC1	Unknown	—	Disgenet
LETHAL CONGENITAL CONTRACTURAL SYNDROME 3	C1969655 MESH:C566961	PIP5K1C	Unknown	—	CTD Disgenet
LETHAL CONGENITAL CONTRACTURE SYNDROME	C5848326	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	253310 C1854664 MESH:C537194 MONDO:0009670	GLE1	Causal	18204449 1820449 22357925 24243016 24961629 27684565 28884921 29096039	CTD ClinVar Disgenet GWAS catalog HPO
LETHAL CONGENITAL CONTRACTURE SYNDROME 1	253310 C1854664 MESH:C537194 MONDO:0009670	ERBB3	Unknown	—	Disgenet
LETHAL CONGENITAL CONTRACTURE SYNDROME 10	617022 OMIM:617022	NEK9	Unknown	—	CTD HPO
LETHAL CONGENITAL CONTRACTURE SYNDROME 11	617194 C4310670 MONDO:0014965 OMIM:617194	GLDN	Causal	—	CTD ClinVar Disgenet GenCC HPO
LETHAL CONGENITAL CONTRACTURE SYNDROME 2	607598 C1843478 MESH:C564369 MONDO:0011868	ERBB3	Causal	17701904	CTD ClinVar Disgenet HPO
LETHAL CONGENITAL CONTRACTURE SYNDROME 3	611369 MONDO:0012656	PIP5K1C	Causal	17701898	ClinGen ClinVar HPO
LETHAL CONGENITAL CONTRACTURE SYNDROME 3	611369 MONDO:0012656	MYBPC1	Unknown	22610851	GWAS catalog
LETHAL CONGENITAL CONTRACTURE SYNDROME 4	614915 C3554046 MONDO:0013965 OMIM:614915	MYBPC1	Unknown	22610851 26661508	CTD ClinVar Disgenet GenCC HPO
LETHAL CONGENITAL CONTRACTURE SYNDROME 5	615368 OMIM:615368	DNM2	Unknown	—	CTD HPO
LETHAL CONGENITAL CONTRACTURE SYNDROME 6	616248 C4015686 MONDO:0014549 OMIM:616248	ZBTB42	Unknown	25055871	CTD ClinVar Disgenet GWAS catalog HPO
LETHAL CONGENITAL CONTRACTURE SYNDROME 7	616286 C4225386 MONDO:0014569 OMIM:616286	CNTNAP1	Causal	24319099	CTD ClinVar Disgenet HPO
LETHAL CONGENITAL CONTRACTURE SYNDROME 8	616287 C4225385 MONDO:0014570 OMIM:616287	ADCY6	Causal	24319099 26257172	CTD ClinVar Disgenet GWAS catalog HPO
LETHAL CONGENITAL CONTRACTURE SYNDROME 8	616287 C4225385 MONDO:0014570 OMIM:616287	SPMIP11	Unknown	—	Disgenet
LETHAL CONGENITAL CONTRACTURE SYNDROME 9	616503 C4225303 MONDO:0014670 OMIM:616503	ADGRG6	Causal	26004201	CTD ClinVar Disgenet GWAS catalog HPO
LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 1	1486	GLE1	Unknown	18204449	Orphanet
LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 2	137776	ERBB3	Unknown	17701904	Orphanet
LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 3	137783	MYBPC1	Unknown	22610851	Orphanet
LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 3	137783	PIP5K1C	Unknown	17701898	Orphanet
LETHAL NEONATAL SPASTICITY, EPILEPTIC ENCEPHALOPATHY SYNDROME	C3281029	BRAT1	Unknown	—	Disgenet

Lethal congenital contracture syndrome