Aliases: FLJ33817, PPP1R166, CAMRQ2, SORF-2.
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 |
|---|---|---|
| Cerebellar Ataxia, Intellectual Disability, and Dysequilibrium Syndrome | causative |
mechanism: Impaired endosome maturation (CAMRQ2); Impaired selective aggregate clearance (CAMRQ2)
subtype: CAMRQ2
scoped to subtype: CAMRQ2
|
| Congenital Hydrocephalus | causative germline |
mechanism: Neuroepithelial Planar Polarity and Apical Constriction Failure
subtype: HYC3
scoped to subtype: HYC3
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.