CYP2R1 (cytochrome P450 family 2 subfamily R member 1) is named by 1 disorder entry.
CYP2R1 is the principal microsomal vitamin D 25-hydroxylase, making 25-hydroxyvitamin D in the liver. Its ai-gene-review gene review is new and is not yet in the pinned ingest snapshot, so the ingest layer currently lists 0 core-function terms for it.
The one entry types CYP2R1 as causative: Vitamin D-Dependent Rickets Type 1B, with germline variants (germline). The gene sits on the node Hepatic 25-Hydroxylase Deficiency.
ClinGen has classified CYP2R1 for 0 diseases, so the causative typing rests on the entry's own literature evidence.
Underlined values are claims re-computed from the knowledge base each time this page is built. The tables below are the source of truth.
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 |
|---|---|---|
| Vitamin D-Dependent Rickets Type 1B | causative germline |
mechanism: Hepatic 25-Hydroxylase Deficiency
diagnosis: CYP2R1 molecular genetic confirmation
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.