Previous symbols: TYRO10, NTRKR3. Aliases: TKT.
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 |
|---|---|---|
| Spondyloepimetaphyseal Dysplasia Short Limb Abnormal Calcification Syndrome | causative germline loss of function |
mechanism: Biallelic Loss-of-Function DDR2 Variants
|
| Warburg-Cinotti Syndrome | causative germline gain of function |
mechanism: Activating DDR2 Kinase-Domain Missense Variants
variant: DDR2 c.1829T>C (p.Leu610Pro); DDR2 c.2219A>G (p.Tyr740Cys)
|
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 |
|---|---|---|---|
| spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome MONDO:0010077 | AR | Definitive 2023-05-30 |
|
| warburg-cinotti syndrome MONDO:0032579 | AD | Moderate 2026-03-27 |
Warburg-Cinotti Syndrome
causative
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.