CRB2

crumbs cell polarity complex component 2

2 disorders 2 causative 9q33.3 gene with protein product

HGNC:18688 Monarch NCBI Gene 286204 ENSG00000148204 UniProt Q5IJ48 OMIM 609720

Aliases: FLJ38464, FLJ16786.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Congenital Hydrocephalus	causative germline	mechanism: Neuroepithelial Planar Polarity and Apical Constriction Failure
Focal Segmental Glomerulosclerosis	causative	mechanism: Glomerular Filtration Barrier Dysfunction subtype: FSGS9 scoped to subtype: FSGS9

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
focal segmental glomerulosclerosis 9 MONDO:0014539	AR	Definitive 2021-10-26	Focal Segmental Glomerulosclerosis causative

Mechanism modules · computed from kb/

ciliopathy_dysfunction via Congenital Hydrocephalus
nephrotic_podocyte_injury via Focal Segmental Glomerulosclerosis

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.