Aliases: CEV14, Trip230, GMAP-210, GMAP210.
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 |
|---|---|---|
| Achondrogenesis Type IA | causative germline loss of function |
mechanism: Biallelic TRIP11 Loss-of-Function Variants; Loss of GMAP-210 Protein
|
| Odontochondrodysplasia | causative germline |
mechanism: Aberrant TRIP11 Splicing with a Null Allele in Trans
|
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 |
|---|---|---|---|
| TRIP11-related skeletal dysplasia MONDO:1040009 | AR | Definitive 2024-09-30 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.