EGF-like fibulin extracellular matrix protein 1
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Diagnostic Grade (Green)
Ehlers Danlos syndrome with a likely monogenic cause
BIALLELIC, autosomal or pseudoautosomalRetinal disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownStructural eye disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedFetal anomalies
BIALLELIC, autosomal or pseudoautosomalGlaucoma (developmental)
Inguinal hernia
open-angle glaucoma
Doyne honeycomb retinal dystrophy
cutis laxa, autosomal recessive, type 1d
Familial drusen
myopia
Hernia of the abdominal wall
Abnormality of the skeletal system
Hernia
diverticular disease
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
EGF-containing fibulin-like extracellular matrix protein 1
Binds EGFR, the EGF receptor, inducing EGFR autophosphorylation and the activation of downstream signaling pathways. May play a role in cell adhesion and migration. May function as a negative regulator of chondrocyte differentiation. In the olfactory epithelium, it may regulate glial cell migration, differentiation and the ability of glial cells to support neuronal neurite outgrowth
Curated MONDO disease pages that list EFEMP1 among their top associated genes.
EFEMP1 · Q12805
Mean pLDDT
76.8/ 100
Confident
493 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
