Previous symbols: OI4.
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 |
|---|---|---|
| Arthrochalasia Ehlers-Danlos Syndrome | causative germline |
mechanism: COL1A2 Exon 6-Affecting Variants
subtype: Arthrochalasia Type 2
|
| Cardiac Valvular Ehlers-Danlos Syndrome | causative |
mechanism: Loss of proalpha2(I) collagen chains
|
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 |
|---|---|---|---|
| congenital heart disease MONDO:0005453 | UD | Disputed 2024-09-09 |
Congenital Heart Disease
not named
|
| Ehlers-Danlos syndrome, cardiac valvular type MONDO:0009159 | AR | Definitive 2023-09-28 |
Cardiac Valvular Ehlers-Danlos Syndrome
causative
|
| COL1A2-related osteogenesis imperfecta MONDO:0100596 | AD | Definitive 2022-12-05 |
no dismech entry |
| COL1A2-related Ehlers-Danlos syndrome MONDO:0100606 | AD | Definitive 2022-11-02 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.