Spondylocostal dysostosis | Gene-Disease Associations & Pathways | GeDiPNet

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Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
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	Endocrine resistance Notch signaling pathway Th1 and Th2 cell differentiation +3 more
		HES7	Unknown	20301771	CTD, Orphanet	Human papillomavirus infection
		LFNG	Unknown	20301771	GenCC, Orphanet	Other types of O-glycan biosynthesis Notch signaling pathway Human papillomavirus infection +1 more
		MESP2	Unknown	20301771	Disgenet, Orphanet	—
		RIPPLY2	Unknown	25343988	GenCC, Orphanet	—
		TBX6	Unknown	27861764	Orphanet	—
SPONDYLOCOSTAL DYSOSTOSIS	MONDO:0000359PS277300	DLL3	Unknown	—	ClinVar	Endocrine resistance Notch signaling pathway Th1 and Th2 cell differentiation +3 more
		DMRT2	Unknown	—	GenCC	—
		HES7	Unknown	—	ClinVar	Human papillomavirus infection
		LFNG	Unknown	—	ClinVar	Other types of O-glycan biosynthesis Notch signaling pathway Human papillomavirus infection +1 more
		MESP2	Unknown	—	ClinVar	—
SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE	277300 MONDO:0020692	DLL3	Causal	10742114 2805381 12791036	ClinVar, Disgenet, HPO	Endocrine resistance Notch signaling pathway Th1 and Th2 cell differentiation +3 more
SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE	277300 MONDO:0020692	MESP2	Unknown	—	ClinVar, HPO	—
SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE	C1837549 608681 MONDO:0012097	HES7	Causal	—	Disgenet	Human papillomavirus infection
		LFNG	Causal	—	Disgenet	Other types of O-glycan biosynthesis Notch signaling pathway Human papillomavirus infection +1 more
		MESP2	Causal	15122512 18485326	ClinVar, Disgenet, HPO	—
		DLL3	Unknown	—	Disgenet	Endocrine resistance Notch signaling pathway Th1 and Th2 cell differentiation +3 more
		RIPPLY2	Unknown	—	Disgenet	—
SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE	609813 C1853296 MONDO:0012349	LFNG	Causal	16385447	ClinVar, Disgenet, HPO	Other types of O-glycan biosynthesis Notch signaling pathway Human papillomavirus infection +1 more
		DLL3	Unknown	—	Disgenet	Endocrine resistance Notch signaling pathway Th1 and Th2 cell differentiation +3 more
		HES7	Unknown	—	Disgenet	Human papillomavirus infection
		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	Human papillomavirus infection
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	10742114 12791036 2805381	CTD	Endocrine resistance Notch signaling pathway Th1 and Th2 cell differentiation +3 more
		HES7	Unknown	—	CTD	Human papillomavirus infection
		LFNG	Unknown	16385447 22822384 30531807 37038048 38565611	CTD	Other types of O-glycan biosynthesis Notch signaling pathway Human papillomavirus infection +1 more
		MESP2	Unknown	15122512 18485326	CTD	—
		RIPPLY2	Unknown	—	CTD	—