Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
ECTOPIA LENTIS	C0013581 MESH:D004479	ADAMTSL4	Causal	—	Disgenet
ECTOPIA LENTIS	C0013581 MESH:D004479	FBN1	Causal	22772368	CTD Disgenet
ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT	129600 C3541518 MONDO:0007514 OMIM:129600	FBN1	Causal	22539873 7802039 8136837	CTD ClinVar Disgenet HPO
ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE	225100 C3541474 MONDO:0009152 OMIM:225100	ADAMTSL4	Causal	25975359 19200529 22736615 21051722 23426735 20702823	CTD ClinVar Disgenet GWAS catalog HPO
ECTOPIA LENTIS ET PUPILLAE	225200 MONDO:0009153	ADAMTSL4	Causal	—	ClinVar GenCC HPO
ECTOPIA LENTIS ISOLATED	C1851286	ADAMTSL4	Unknown	—	Disgenet
ECTOPIA LENTIS ISOLATED	C1851286	FBN1	Unknown	—	Disgenet
ECTOPIA LENTIS WITH ECTOPIA OF PUPIL	C1644196 MESH:C563268	ADAMTSL4	Unknown	—	CTD Disgenet
ECTOPIA LENTIS, SPONTANEOUS FILTERING BLEBS, AND CRANIOFACIAL DYSMORPHISM	C1832167 MESH:C563293	ASPH	Unknown	—	CTD Disgenet

Ectopia lentis