Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
EPIPHYSEAL DYSPLASIA	C0392476	COL9A2	Unknown	—	Disgenet
EPIPHYSEAL DYSPLASIA	C0392476	FOXP4	Unknown	—	Disgenet
EPIPHYSEAL DYSPLASIA, MULTIPLE, 1	C1838280 132400 MESH:C535501	COL1A1	Unknown	—	Disgenet
EPIPHYSEAL DYSPLASIA, MULTIPLE, 1	C1838280 132400 MESH:C535501	COMP	Unknown	7670472 9887340	CTD Disgenet HPO
EPIPHYSEAL DYSPLASIA, MULTIPLE, 2	600204 C1838429 MESH:C535502 MONDO:0010844	COL9A2	Causal	10364514 8528240 12244547	CTD ClinVar Disgenet GWAS catalog HPO
EPIPHYSEAL DYSPLASIA, MULTIPLE, 3	600969 C1832998 MESH:C535503 MONDO:0010964	COL9A3	Causal	15551337 10090888 10655510	CTD ClinVar Disgenet GWAS catalog HPO
EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, WITH MYOPATHY	C3152083	COL9A3	Causal	—	Disgenet
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4	226900 C1847593 MESH:C535504	SLC26A2	Unknown	—	CTD Disgenet HPO
EPIPHYSEAL DYSPLASIA, MULTIPLE, 5	607078 C1846843 MESH:C535505	MATN3	Unknown	—	CTD Disgenet HPO
EPIPHYSEAL DYSPLASIA, MULTIPLE, 6	614135 C2675767 MONDO:0013591 OMIM:614135	COL9A1	Causal	11565064	CTD ClinVar Disgenet GWAS catalog HPO
EPIPHYSEAL DYSPLASIA, MULTIPLE, 6	614135 C2675767 MONDO:0013591 OMIM:614135	COL2A1	Unknown	—	Disgenet
EPIPHYSEAL DYSPLASIA, MULTIPLE, 7	617719 MONDO:0054680	CANT1	Causal	—	ClinVar HPO
EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS	226980	EIF2AK3	Unknown	—	HPO
EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS	132450 C1851536 MESH:C565046	COL2A1	Unknown	—	CTD Disgenet HPO

Epiphyseal dysplasia