Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
COL2A1-RELATED SPONDYLOEPIPHYSEAL DYSPLASIA	MONDO:0100602	COL2A1	Unknown	12925722 12968670 15522781 16755660 16957471 17163530 18553548 2339128 25735649 3033664 32071555 7738948 7806485 8244341	ClinGen GWAS catalog
MILD SPONDYLOEPIPHYSEAL DYSPLASIA DUE TO COL2A1 MUTATION WITH EARLY ONSET OSTEOARTHRITIS	C4275063	COL2A1	Unknown	—	Disgenet
MILD SPONDYLOEPIPHYSEAL DYSPLASIA DUE TO COL2A1 MUTATION WITH EARLY-ONSET OSTEOARTHRITIS	93279 MONDO:0011496	COL2A1	Unknown	11708863 1975693 2300123 26443184 26626311 7757086 8129781	GWAS catalog Orphanet
SPONDYLOEPIPHYSEAL DYSPLASIA	C0038015 MONDO:0016761	B3GALT6	Causal	—	Disgenet
		GLB1	Causal	—	Disgenet
		ACAN	Unknown	—	Disgenet
		MGP	Unknown	—	Disgenet
		OFD1	Unknown	—	Disgenet
		RPL13	Unknown	31630789	Disgenet GWAS catalog
		TRAPPC2	Unknown	—	Disgenet
SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA	183900 94068 MONDO:0008471	COL2A1	Causal	2543071 2339128 8325895 8423604 25060605 26358419 26626311 26443184 1353665 7738948 7847372 7866404 8019561 8244341 8723097 8877930 26030151	ClinVar GWAS catalog HPO Orphanet
SPONDYLOEPIPHYSEAL DYSPLASIA STANESCU TYPE	C4225273	ALDH18A1	Unknown	—	Disgenet
SPONDYLOEPIPHYSEAL DYSPLASIA STANESCU TYPE	C4225273	COL2A1	Unknown	—	Disgenet
SPONDYLOEPIPHYSEAL DYSPLASIA TARDA	93284 MONDO:0019667	TRAPPC2	Causal	20301324	GenCC Orphanet
SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED	313400 C3541456 MONDO:0010737	TRAPPC2	Causal	—	ClinVar Disgenet GenCC HPO
SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED	313400 C3541456 MONDO:0010737	OFD1	Unknown	—	Disgenet
SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS	143095 MONDO:0007738 OMIM:143095	CHST3	Causal	112567 18698629 20830804 15098240 18513679 19320654	CTD ClinGen ClinVar GWAS catalog HPO
SPONDYLOEPIPHYSEAL DYSPLASIA WITH METATARSAL SHORTENING	137678 MONDO:0012206	COL2A1	Causal	17726487	ClinVar GenCC Orphanet
SPONDYLOEPIPHYSEAL DYSPLASIA, CONGENITA	C2745959 MESH:C535788	BNIP1	Unknown	—	Disgenet
		CCN6	Unknown	—	Disgenet
		CHST3	Unknown	—	Disgenet
		CLASP1	Unknown	—	Disgenet
		COL2A1	Unknown	—	CTD Disgenet
		HSPG2	Unknown	—	Disgenet
		TRAPPC2	Unknown	—	Disgenet
SPONDYLOEPIPHYSEAL DYSPLASIA, CRANIOSYNOSTOSIS, CLEFT PALATE, CATARACT AND INTELLECTUAL DISABILITY SYNDROME	C4305147	WWP2	Unknown	—	Disgenet
SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE	608361 93283 C1842149 MESH:C564252 MONDO:0012019	ACAN	Causal	16080123 27710243 31747937 32871652 33298914 34187405 34210114 34456977 34605228 35330881 36387899 36597844 36950254 37025453 37064332	CTD ClinVar Disgenet GWAS catalog HPO Orphanet
SPONDYLOEPIPHYSEAL DYSPLASIA, KONDO-FU TYPE	618392 C5193071 MONDO:0032721	MBTPS1	Causal	30046013 32420688 32857899 35362222 36330313 36714646 36816387 38337829	ClinGen ClinVar Disgenet GWAS catalog HPO
SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE	184095 C3159322 OMIM:184095	TRPV4	Unknown	—	CTD Disgenet HPO
SPONDYLOEPIPHYSEAL DYSPLASIA, OMANI TYPE	C1837657	CHST3	Unknown	—	Disgenet
SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS	619260 C5543257 MONDO:0031007	NMNAT1	Causal	32533184 33668384	ClinVar Disgenet GWAS catalog HPO
SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE	459051 616583 MONDO:0014701	COL2A1	Causal	26183434	ClinGen ClinVar GenCC HPO Orphanet

Spondyloepiphyseal dysplasia