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PLOD1

procollagen-lysine,2-oxoglutarate 5-dioxygenase 1
2 disorders 1 untyped 1 causative 1p36.22 gene with protein product
HGNC:9081MonarchNCBI Gene 5351ENSG00000083444UniProt Q02809OMIM 153454

Previous symbols: LLH, PLOD. Aliases: LH1.

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.

DisorderRelationshipWhere the gene appears
Kyphoscoliotic Ehlers-Danlos Syndrome causative germline loss of function
mechanism: PLOD1 Loss-of-Function
subtype: kEDS-PLOD1
scoped to subtype: kEDS-PLOD1
Ehlers-Danlos Syndrome untyped
Pathogenic Variants
scoped to subtype: Kyphoscoliotic EDS

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