Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7421
Gene Symbol: VDR
VDR
CUI: C0342646
Disease: Vitamin D-Dependent Rickets, Type 2A
Vitamin D-Dependent Rickets, Type 2A 		0.730 GeneticVariation BEFREE <b>Context:</b> Vitamin D-dependent rickets type 2A (VDDR2A) is a rare autosomal recessive disorder and is caused by mutations in the vitamin D receptor gene (<i>VDR</i>), leading to end-organ resistance to 1,25(OH)<sup>2</sup>D<sup>3</sup>. 31557081

2020
Entrez Id: 7421
Gene Symbol: VDR
VDR
CUI: C0342646
Disease: Vitamin D-Dependent Rickets, Type 2A
Vitamin D-Dependent Rickets, Type 2A 		0.730 GeneticVariation BEFREE In this report, we describe a female patient with VDDR2A caused by an early stop codon (R30X) in the VDR gene that resulted in a severely truncated VDR protein. 28367941

2017
Entrez Id: 7421
Gene Symbol: VDR
VDR
CUI: C0342646
Disease: Vitamin D-Dependent Rickets, Type 2A
Vitamin D-Dependent Rickets, Type 2A 		0.730 GeneticVariation BEFREE Atrichia with papules also occurs in the clinical setting of vitamin D-dependent rickets type IIA (VDDR IIA; OMIM 277440), resulting from mutations in the vitamin D receptor gene on chromosome 12q12-q14. 14676077

2003