Aliases: NR1I1, PPP1R163.
VDR (vitamin D receptor) is named by 2 disorder entries.
VDR is the calcitriol-activated nuclear receptor that heterodimerises with RXR on vitamin D response elements. 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.
One entry types VDR as causative: Vitamin D-Dependent Rickets Type 2A, with germline variants (germline). That entry places VDR on 6 pathophysiology nodes, which split the receptor defect by mechanism, for example Impaired Calcitriol Binding by VDR, Impaired VDR Binding to Vitamin D Response Elements and Impaired VDR-RXR Heterodimerization.
Osteoporosis records VDR as disputed, and places it on 0 nodes.
ClinGen has classified VDR for 0 diseases.
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 |
|---|---|---|
| Osteoporosis | disputed | |
| Vitamin D-Dependent Rickets Type 2A | causative germline dominant negativeloss of function |
mechanism: Absent or Truncated VDR Protein; Dominant-Negative VDR Corepressor Retention; Impaired Calcitriol Binding by VDR; Impaired VDR Binding to Vitamin D Response Elements; Impaired VDR Coactivator Recruitment; Impaired VDR-RXR Heterodimerization
diagnosis: VDR Molecular Genetic Testing
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.