Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
AUTOSOMAL RECESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA MEGARBANE TYPE	C5190608	PAM16	Unknown	—	Disgenet
AUTOSOMAL RECESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE TYPE	MONDO:0013223 401979	PAM16	Causal	24786642 27354339	ClinVar Disgenet
SPONDYLOMETAPHYSEAL DYSPLASIA	C4759767 MONDO:0016763	FN1	Causal	—	Disgenet
		ACP5	Unknown	—	Disgenet
		COL2A1	Unknown	12925722 16088915 17163530 22570642 2339128 23653587 26250472 27888646 28738883 29928178 3033664 7806485	Disgenet GWAS catalog
		PLCB3	Unknown	29122926	Disgenet GWAS catalog
		PRKG2	Unknown	—	Disgenet
		TONSL	Unknown	—	Disgenet
SPONDYLOMETAPHYSEAL DYSPLASIA - SUTCLIFFE TYPE		COL2A1	Causal	—	ClinVar
SPONDYLOMETAPHYSEAL DYSPLASIA - SUTCLIFFE TYPE		FN1	Causal	—	ClinVar
SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY	608940 C1837073 MESH:C563825	PCYT1A	Unknown	—	CTD Disgenet HPO
SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY SYNDROME	C4304887	PCYT1A	Unknown	—	Disgenet
SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY	618961 MONDO:0030074	PLCB3	Causal	29122926	ClinVar GWAS catalog HPO
SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA	C2745953	TRIP11	Unknown	—	Disgenet
SPONDYLOMETAPHYSEAL DYSPLASIA, 'CORNER FRACTURE' TYPE	93315 MONDO:0008479	COL2A1	Unknown	17163530	Orphanet
SPONDYLOMETAPHYSEAL DYSPLASIA, 'CORNER FRACTURE' TYPE	93315 MONDO:0008479	FN1	Unknown	29100092 30599297 32561820 33605604 37940834	ClinGen GWAS catalog Orphanet
SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE	184253 C1866688	COL2A1	Unknown	—	Disgenet HPO
SPONDYLOMETAPHYSEAL DYSPLASIA, AXIAL	602271 C1865695	CFAP410	Unknown	—	Disgenet HPO
SPONDYLOMETAPHYSEAL DYSPLASIA, CORNEAL DYSTROPHY SYNDROME	C5394555	PLCB3	Unknown	—	Disgenet
SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE	C0432221 184255	ATIC	Unknown	—	Disgenet
		COL2A1	Unknown	—	Disgenet HPO
		FN1	Unknown	—	Disgenet HPO
SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE	184252 93314 C0265280 MESH:C535797 MONDO:0008477	TRPV4	Causal	19232556 20577006 24830047	CTD ClinVar Disgenet HPO Orphanet
SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE	613320	PAM16	Unknown	—	HPO
SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE	619638 C5562030 MONDO:0030487	PRKG2	Causal	—	ClinVar Disgenet HPO
SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE	619638 C5562030 MONDO:0030487	SDR42E1	Unknown	—	Disgenet
SPONDYLOMETAPHYSEAL DYSPLASIA, SCHMIDT TYPE	93316 MONDO:0008478	COL2A1	Causal	23653587	ClinVar GWAS catalog Orphanet
SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE	250220 93317 C1855229 MESH:C535798 MONDO:0009593	GPX4	Causal	24706940	CTD ClinVar Disgenet HPO Orphanet
SPONDYLOMETAPHYSEAL DYSPLASIA-CONE-ROD DYSTROPHY SYNDROME	85167 MONDO:0012160	PCYT1A	Causal	24387990 28272537 24387991	ClinGen ClinVar GWAS catalog Orphanet
SPONDYLOMETAPHYSEAL DYSPLASIA-CORNEAL DYSTROPHY SYNDROME	589435	PLCB3	Unknown	29122926	Orphanet

Spondylometaphyseal dysplasia