Annotation Detail
Information
- Associated Genes
- VDR
- Associated Variants
-
VDR MUTATION
VDR MUTATION - Associated Disease
- rickets
- Source Database
- DisGeNET
- Description
- To study the vitamin D receptor (VDR) gene in five Egyptian patients with severe rickets and the clinical features of hereditary vitamin D-resistant rickets, including hypocalcemia, hypophosphatemia, total alopecia, and elevated serum levels of 1,25-dihydroxyvitamin D.
- Pubmed
- 24859502
- Section of the abstract supporting the evidence
- OBJECTIVE
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 1
- Original source reporting the Gene Disease association
- BeFree,CTD_human,GAD,LHGDN
- DisGENET score for the Gene Disease association
- 0.150280732629397
Drugs