Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
AUTOSOMAL DOMINANT SPONDYLOCOSTAL DYSOSTOSIS	1797 C4274761 MONDO:0015826	TBX6	Unknown	23335591	Disgenet Orphanet
AUTOSOMAL RECESSIVE SPONDYLOCOSTAL DYSOSTOSIS	2311 MONDO:0010180	DLL3	Unknown	20301771	CTD Orphanet
		HES7	Unknown	20301771	CTD Orphanet
		LFNG	Unknown	20301771	GenCC Orphanet
		MESP2	Unknown	20301771	Disgenet Orphanet
		RIPPLY2	Unknown	25343988	GenCC Orphanet
		TBX6	Unknown	27861764	Orphanet
SPONDYLOCOSTAL DYSOSTOSIS	MONDO:0000359PS277300	DLL3	Unknown	—	ClinVar
		DMRT2	Unknown	—	GenCC
		HES7	Unknown	—	ClinVar
		LFNG	Unknown	—	ClinVar
		MESP2	Unknown	—	ClinVar
SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE	277300 MONDO:0020692	DLL3	Causal	10742114 2805381 12791036	ClinVar Disgenet HPO
SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE	277300 MONDO:0020692	MESP2	Unknown	—	ClinVar HPO
SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE	C1837549 608681 MONDO:0012097	HES7	Causal	—	Disgenet
		LFNG	Causal	—	Disgenet
		MESP2	Causal	15122512 18485326	ClinVar Disgenet HPO
		DLL3	Unknown	—	Disgenet
		RIPPLY2	Unknown	—	Disgenet
SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE	609813 C1853296 MONDO:0012349	LFNG	Causal	16385447	ClinVar Disgenet HPO
		DLL3	Unknown	—	Disgenet
		HES7	Unknown	—	Disgenet
		MESP2	Unknown	—	Disgenet
		RIPPLY2	Unknown	—	Disgenet
SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE	613686 C3150942 MONDO:0013366	HES7	Causal	11641270 18775957 20087400 23897666 29459493	ClinVar Disgenet GWAS catalog HPO
SPONDYLOCOSTAL DYSOSTOSIS 5	122600 C4083048 MONDO:0007389 OMIM:122600	TBX6	Causal	20503311 23335591 25564734 30307510 31015262 8954725	CTD ClinVar Disgenet HPO
SPONDYLOCOSTAL DYSOSTOSIS 6, AUTOSOMAL RECESSIVE	616566 C4225279 MONDO:0014694	RIPPLY2	Unknown	17360776 25343988 26238661 30420309	ClinVar Disgenet GWAS catalog HPO
SPONDYLOCOSTAL DYSOSTOSIS 6, AUTOSOMAL RECESSIVE	616566 C4225279 MONDO:0014694	RIPPLY2-CYB5R4	Unknown	—	Disgenet
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE	MESH:C535781	DLL3	Unknown	—	CTD
		HES7	Unknown	—	CTD
		LFNG	Unknown	—	CTD
		MESP2	Unknown	—	CTD
		RIPPLY2	Unknown	—	CTD

Spondylocostal dysostosis