Aliases: 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 |
|---|---|---|
| Aneurysmal Bone Cyst | cooperating somatic | |
| Arthrochalasia Ehlers-Danlos Syndrome | causative germline |
mechanism: COL1A1 Exon 6-Affecting Variants
subtype: Arthrochalasia Type 1
|
| Osteogenesis Imperfecta Type I | causative |
mechanism: Type I Collagen Haploinsufficiency
|
| Otosclerosis | disputed germline | |
| Skeletal Fluorosis | susceptibility germline | |
| Ehlers-Danlos Syndrome |
untyped
Pathogenic Variants
|
scoped to subtype: Classical EDS
|
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 |
|---|---|---|---|
| Caffey disease MONDO:0007244 | AD | Definitive 2023-09-28 |
no dismech entry |
| osteogenesis imperfecta MONDO:0019019 | AD | Definitive 2022-06-06 |
no dismech entry |
| COL1A1-related Ehlers-Danlos syndrome MONDO:0100599 | AD | Definitive 2022-10-03 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.