This gene is a member of the frizzled gene family. Members of this family encode seven-transmembrane domain proteins that are receptors for the wingless type MMTV integration site family of signaling proteins. Most frizzled receptors are coupled to the be
Gene ontology (GO)Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
Receptor for Wnt proteins. Most of frizzled receptors are coupled to the beta-catenin canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin and activat
TISSUE SPECIFICITY: Widely expressed. Relatively high expression in the CNS, including regions of the limbic system, in kidney, pancreas, skeletal muscle, uterus and testis.
Evidence Score:★☆☆☆☆ Gene-disease association found in Text Mining only★★☆☆☆ Found in Text Mining and Unknown/Other Associations★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
CausalDiseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Unknown / Other Associations
ClinVar entries with uncertain/conflicting evidence, and associations from other databases
(OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name
Clinical Significance
Source
Reference
Evidence Score
CEREBELLAR HYPOPLASIA/ATROPHY, EPILEPSY, AND GLOBAL DEVELOPMENTAL DELAY
["mTOR signaling pathway","Wnt signaling pathway","Hippo signaling pathway","Signaling pathways regulating pluripotency of stem cells","Melanogenesis","Cushing syndrome","Proteoglycans in cancer","Basal cell carcinoma","Breast cancer","Hepatocellular carcinoma","Gastric cancer","Asymmetric localization of PCP proteins"]
0
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Diseases Linked via Similar GenesDiseases curated for genes most similar to FZD3 (see Related Genes above), that are NOT already directly curated for FZD3 itself -- a lead worth checking, not a confirmed association.