rs780229030, RELB

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hypophosphatemic Rickets, X-Linked Dominant
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
0.010 GeneticVariation BEFREE Vitamin D-resistant rickets and type 1 diabetes in a child with compound heterozygous mutations of the vitamin D receptor (L263R and R391S): dissociated responses of the CYP-24 and rel-B promoters to 1,25-dihydroxyvitamin D3. 16753019 2006
Vitamin D-resistant rickets
CUI: C2363065
Disease: Vitamin D-resistant rickets
0.010 GeneticVariation BEFREE Vitamin D-resistant rickets and type 1 diabetes in a child with compound heterozygous mutations of the vitamin D receptor (L263R and R391S): dissociated responses of the CYP-24 and rel-B promoters to 1,25-dihydroxyvitamin D3. 16753019 2006
Diabetes Mellitus, Insulin-Dependent
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
0.010 GeneticVariation BEFREE Vitamin D-resistant rickets and type 1 diabetes in a child with compound heterozygous mutations of the vitamin D receptor (L263R and R391S): dissociated responses of the CYP-24 and rel-B promoters to 1,25-dihydroxyvitamin D3. 16753019 2006
Familial Hypophosphatemic Rickets
CUI: C3536983
Disease: Familial Hypophosphatemic Rickets
0.010 GeneticVariation BEFREE Vitamin D-resistant rickets and type 1 diabetes in a child with compound heterozygous mutations of the vitamin D receptor (L263R and R391S): dissociated responses of the CYP-24 and rel-B promoters to 1,25-dihydroxyvitamin D3. 16753019 2006