Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
SPONDYLOEPIMETAPHYSEAL DYSPLASIA CONGENITA, STRUDWICK TYPE	93346	COL2A1	Unknown	7550321	Orphanet
SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH ABNORMAL DENTITION	C1866507	SLC39A13	Unknown	—	Disgenet
SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY	C0432243 MONDO:0019675	B3GALT6	Causal	23664117	Disgenet GWAS catalog
SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY	C0432243 MONDO:0019675	EXOC6B	Unknown	26669664 30284759	Disgenet GWAS catalog
SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, BEIGHTON TYPE	642099	B3GALT6	Unknown	36779427	Orphanet
SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, EXOC6B TYPE	C5193073	EXOC6B	Unknown	—	Disgenet
SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, LEPTODACTYLIC TYPE	93360	KIF22	Unknown	22152677	Orphanet
SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES	271640 C4017377 MONDO:0010075 OMIM:271640	B3GALT6	Causal	23664117	CTD ClinVar Disgenet GWAS catalog HPO
SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2	603546	KIF22	Unknown	—	HPO
SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 3	618395 MONDO:0032724	EXOC6B	Causal	10022848 26669664 30284759 36150098 38305850	ClinGen ClinVar GWAS catalog HPO
SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS	C1863732 MONDO:0011335	KIF22	Causal	19277648 22152678	ClinVar Disgenet GWAS catalog
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE	171866 612813 C2748544 MESH:C567558 MONDO:0013014	ACAN	Causal	19110214 35314765	CTD ClinVar Disgenet GWAS catalog HPO Orphanet
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, BIEGANSKI TYPE	MONDO:0010275	AIFM1	Causal	28842795	ClinVar Disgenet
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, BOROCHOWITZ-CORMIER-DAIRE TYPE	608728	MATN3	Unknown	—	HPO
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE	617974 C4693799 MONDO:0060702	UFSP2	Causal	—	ClinVar Disgenet HPO
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, FADEN-ALKURAYA TYPE	616723	RSPRY1	Unknown	—	HPO
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVI ? ? ? VE TYPE	168454	NANS	Unknown	27213289	Orphanet
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE	610442 C1864872 MESH:C535785 MONDO:0012495	NANS	Causal	27213289	CTD ClinVar Disgenet HPO
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE	610442 C1864872 MESH:C535785 MONDO:0012495	TRIM14	Unknown	—	Disgenet
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE	620663 C5882737 MONDO:0958006	ERI1	Causal	37352860	ClinVar Disgenet HPO
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE	370015 618728 C5231478 MONDO:0032885	RPL13	Causal	31630789 32916022 37121912	CTD ClinVar Disgenet HPO Orphanet
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE	618162 C4748455 MONDO:0032571	SIK3	Causal	22318228 30232230	ClinVar Disgenet HPO
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, LI-SHAO-LI TYPE	621099 MONDO:0976230	CCN2	Unknown	—	ClinVar HPO
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MAROTEAUX TYPE	263482 MONDO:0008473	TRPV4	Causal	18762026 19790068 20503319 21964574 24830047	ClinVar GWAS catalog Orphanet
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED	C1837481 MESH:C563869	MATN3	Unknown	—	CTD Disgenet
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 TYPE	156728 MONDO:0012108	MATN3	Causal	14749384 15121775 16199550 32470407	ClinVar GWAS catalog Orphanet
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE	602111 93356 C1865832 MESH:C566574 MONDO:0011198	MMP13	Causal	8412645 19615667	CTD ClinVar Disgenet HPO Orphanet
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, PAKISTANI TYPE	C2748515 MESH:C567551	PAPSS2	Unknown	—	CTD Disgenet
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, PAPSS2 TYPE	93282 MONDO:0019666	PAPSS2	Causal	19474428 22791835 9714015 9771708	ClinVar GenCC Orphanet
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE	602557 93352 C1865185 MONDO:0011252	DDRGK1	Causal	28263186 35670300	CTD ClinVar Disgenet HPO Orphanet
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHORT LIMB, ABNORMAL CALCIFICATION SYNDROME	C4707851	DDR2	Unknown	—	Disgenet
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE	271510 C1300260 MONDO:0010068	TONSL	Unknown	—	Disgenet GenCC HPO
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE	184250 MONDO:0008476	COL2A1	Causal	8486375 16088915 7550321 26626311 26443184	ClinVar GWAS catalog HPO
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED	C1848097 300106 MESH:C564714	ABCD1	Unknown	—	Disgenet
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED	C1848097 300106 MESH:C564714	BGN	Unknown	—	CTD Disgenet HPO
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY	300232 C1846148 OMIM:300232	AIFM1	Unknown	—	CTD Disgenet HPO
	300232 C1846148 OMIM:300232	RAB33A	Unknown	—	Disgenet
SPONDYLOEPIMETAPHYSEAL DYSPLASIA-ABNORMAL DENTITION SYNDROME	MONDO:0011124	SLC39A13	Unknown	—	GenCC
SPONDYLOEPIMETAPHYSEAL DYSPLASIA-SHORT LIMB-ABNORMAL CALCIFICATION SYNDROME	93358 MONDO:0010077	DDR2	Causal	19110212 8434618	ClinGen ClinVar GWAS catalog Orphanet

Spondyloepimetaphyseal dysplasia