COL3A1

collagen type III alpha 1 chain

4 disorders 2 causative 1 no genetic record 1 untyped 2q32.2 gene with protein product

HGNC:2201 Monarch NCBI Gene 1281 ENSG00000168542 UniProt P02461 OMIM 120180

Previous symbols: EDS4A.

In the knowledge base · computed from kb/ at build time

Disorders

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
Familial Thoracic Aortic Aneurysm and Aortic Dissection	causative germline	mechanism: Extracellular matrix structural failure
Vascular Ehlers-Danlos Syndrome	causative germline	mechanism: Type III collagen matrix fragility
Ehlers-Danlos Syndrome	untyped Pathogenic Variants	animal model: Mouse scoped to subtype: Vascular EDS
ADGRG1-related Bilateral Frontoparietal Polymicrogyria	no genetic record	mechanism: Disrupted GPR56-Collagen III Signaling animal model: Mouse (Mus musculus)

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

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
Ehlers-Danlos syndrome, vascular type MONDO:0017314	AD	Definitive 2019-02-27	Vascular Ehlers-Danlos Syndrome causative

Mechanism modules · computed from kb/

aortopathy_tgfbeta_dysregulation via Familial Thoracic Aortic Aneurysm and Aortic Dissection, Vascular Ehlers-Danlos Syndrome
pial_basement_membrane_radial_glial_endfoot_failure via ADGRG1-related Bilateral Frontoparietal Polymicrogyria named in the module itself

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.