Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
OTOFACIOCERVICAL SYNDROME	2792 C1833691 MESH:C563481	EYA1	Unknown	16441263	CTD Disgenet Orphanet
OTOFACIOCERVICAL SYNDROME	2792 C1833691 MESH:C563481	PAX1	Unknown	23851939	CTD Disgenet Orphanet
OTOFACIOCERVICAL SYNDROME 1	166780 C3714941 MONDO:0024532	EYA1	Causal	—	ClinVar Disgenet HPO
OTOFACIOCERVICAL SYNDROME 1	166780 C3714941 MONDO:0024532	PAX1	Unknown	—	Disgenet
OTOFACIOCERVICAL SYNDROME 2	C3714942 MONDO:0014254	PAX1	Causal	23851939 2453291 26284228 28657137 29681087 32111619 35595062 35879406 37689091 37924468 8565834	ClinGen ClinVar Disgenet GWAS catalog
OTOFACIOCERVICAL SYNDROME 2, WITH T-CELL DEFICIENCY	615560 C5442121	PAX1	Unknown	—	Disgenet HPO

Otofaciocervical syndrome