Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 120227
Gene Symbol: CYP2R1
CYP2R1
0.310 GeneticVariation disease BEFREE Mutations in CYP27B1 cause 1α-hydroxylase deficiency, also known as vitamin D dependent rickets type I or hereditary pseudo-vitamin D deficient rickets; very rare mutations in CYP2R1 can cause 25-hydroxylase deficiency. 27060335 2017
Entrez Id: 120227
Gene Symbol: CYP2R1
CYP2R1
0.310 GermlineCausalMutation disease ORPHANET