Previous symbols: SEDC, AOM. Aliases: STL1.
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 II |
causative
germline
CLINGEN: definitive
|
mechanism: Heterozygous Pathogenic COL2A1 Variant
animal model: Col2a1 Gly85Cys transgenic mouse; Col2a1 human minigene (in-frame deletion) transgenic mouse; Col2a1 null mouse; Col2a1 p.Gly1170Ser knock-in mouse
|
| Chondrosarcoma | somatic driver somatic |
mechanism: COL2A1 Matrix Gene Disruption
|
| Czech dysplasia | causative |
mechanism: COL2A1 p.Arg275Cys Substitution in the Triple-Helical Domain
|
| Legg-Calve-Perthes Disease | causative germline |
mechanism: Heritable Type II Collagen Defect in Familial Perthes Disease
|
| Multiple Epiphyseal Dysplasia, Beighton Type | causative germline dominant negative |
mechanism: COL2A1 p.Arg704Cys Substitution in the Triple-Helical Domain
|
| Spondylometaphyseal Dysplasia, Schmidt Type | causative germline |
mechanism: Heterozygous COL2A1 Glycine Substitution
|
| Stickler Syndrome Type 1 Nonsyndromic Ocular | causative germline loss of function |
mechanism: COL2A1 Null Allele in the Alternatively Spliced Exon 2
|
| Hypochondrogenesis |
untyped
Causative
|
|
| Kniest Dysplasia |
untyped
Pathogenic Variants
|
|
| Spondyloepimetaphyseal Dysplasia Strudwick Type |
untyped
Causative
|
mechanism: Collagen Triple Helix Disruption
|
| Spondyloepiphyseal Dysplasia Congenita |
untyped
Causative
|
mechanism: Dominant-Negative Collagen Misfolding
animal model: Mouse
|
| Stickler Syndrome Type 1 |
untyped
Causative
|
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 |
|---|---|---|---|
| Stickler syndrome type 1 MONDO:0007160 | AD | Definitive 2023-09-28 |
Stickler Syndrome Type 1
untyped
|
| platyspondylic dysplasia, Torrance type MONDO:0007895 | AD | Definitive 2021-02-01 |
no dismech entry |
| Kniest dysplasia MONDO:0007987 | AD | Definitive 2021-12-15 |
Kniest Dysplasia
untyped
|
| achondrogenesis type II MONDO:0008702 | AD | Definitive 2020-10-05 |
Achondrogenesis Type II
causative
|
| spondyloperipheral dysplasia MONDO:0010078 | AD | Definitive 2023-09-28 |
no dismech entry |
| COL2A1-related spondyloepiphyseal dysplasia MONDO:0100602 | AD | Definitive 2021-12-06 |
no dismech entry |
| dysplasia of the proximal femoral epiphyses MONDO:1030002 | AD | Definitive 2024-08-06 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.