Aliases: OFIP, MNR.
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 |
|---|---|---|
| Joubert syndrome |
untyped
Causative
|
mechanism: Ciliary gene mutations disrupt primary cilium assembly
|
| Short-rib thoracic dysplasia 21 without polydactyly |
untyped
Causal biallelic variant
|
mechanism: Biallelic KIAA0753 Loss-of-Function Variants
|
| Orofaciodigital Syndrome | no genetic record |
mechanism: Ciliary and Centriolar Gene Defect
subtype: OFD XV
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.