cadherin EGF LAG seven-pass G-type receptor 3
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Moderate Evidence (Amber)
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalFamilial Hirschsprung Disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalcongenital anomalies of kidney and urinary tract 1
neurodevelopmental disorder
epilepsy
Hirschsprung disease
congenital anomaly of kidney and urinary tract
Tourette syndrome
major depressive disorder
obesity disorder
intelligence
hypertrophic cardiomyopathy
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Cadherin EGF LAG seven-pass G-type receptor 3
Receptor that may have an important role in cell/cell signaling during nervous system formation
CELSR3 · Q9NYQ7
Mean pLDDT
Not published
AlphaFold has not published a prediction for this sequence. This is common for very long proteins.
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
