Ectopia lentis | Gene-Disease Associations & Pathways | GeDiPNet

GeDiPNet

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Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
ECTOPIA LENTIS	C0013581 MESH:D004479	ADAMTSL4	Causal	—	Disgenet	Defective B3GALTL causes Peters-plus syndrome (PpS) O-glycosylation of TSR domain-containing proteins
ECTOPIA LENTIS	C0013581 MESH:D004479	FBN1	Causal	22772368	CTD, Disgenet	TGF-beta signaling pathway Cytoskeleton in muscle cells Degradation of the extracellular matrix +5 more
ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT	129600 C3541518 MONDO:0007514 OMIM:129600	FBN1	Causal	22539873 7802039 8136837	CTD, ClinVar, Disgenet, HPO	TGF-beta signaling pathway Cytoskeleton in muscle cells Degradation of the extracellular matrix +5 more
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	Defective B3GALTL causes Peters-plus syndrome (PpS) O-glycosylation of TSR domain-containing proteins
ECTOPIA LENTIS ET PUPILLAE	225200 MONDO:0009153	ADAMTSL4	Causal	—	ClinVar, GenCC, HPO	Defective B3GALTL causes Peters-plus syndrome (PpS) O-glycosylation of TSR domain-containing proteins
ECTOPIA LENTIS ISOLATED	C1851286	ADAMTSL4	Unknown	—	Disgenet	Defective B3GALTL causes Peters-plus syndrome (PpS) O-glycosylation of TSR domain-containing proteins
ECTOPIA LENTIS ISOLATED	C1851286	FBN1	Unknown	—	Disgenet	TGF-beta signaling pathway Cytoskeleton in muscle cells Degradation of the extracellular matrix +5 more
ECTOPIA LENTIS WITH ECTOPIA OF PUPIL	C1644196 MESH:C563268	ADAMTSL4	Unknown	—	CTD, Disgenet	Defective B3GALTL causes Peters-plus syndrome (PpS) O-glycosylation of TSR domain-containing proteins
ECTOPIA LENTIS, SPONTANEOUS FILTERING BLEBS, AND CRANIOFACIAL DYSMORPHISM	C1832167 MESH:C563293	ASPH	Unknown	—	CTD, Disgenet	Calcium signaling pathway Cardiac muscle contraction Stimuli-sensing channels +1 more