Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7421
Gene Symbol: VDR
VDR
CUI: C3536983
Disease: Familial Hypophosphatemic Rickets
Familial Hypophosphatemic Rickets
0.400 GermlineCausalMutation ORPHANET Mutations in the vitamin D receptor gene in three kindreds associated with hereditary vitamin D resistant rickets. 9284761

1997

Entrez Id: 7421
Gene Symbol: VDR
VDR
Vitamin D-Dependent Rickets, Type 2A
0.730 CausalMutation CLINVAR

Entrez Id: 7421
Gene Symbol: VDR
VDR
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
0.700 AlteredExpression BEFREE Vitamin D activity requires an adequate vitamin D status as indicated by the serum level of 25-hydroxyvitamin D and appropriate expression of genes coding for vitamin D receptor and 25-hydroxyvitamin D 1α-hydroxylase, the enzyme which converts 25-hydroxyvitamin D to 1,25-dihydroxyvitamin D. Vitamin D deficiency contributes to the aetiology of osteomalacia and osteoporosis. 23911750

2013

Entrez Id: 7421
Gene Symbol: VDR
VDR
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
0.700 AlteredExpression BEFREE Reports in the osteoporosis literature demonstrating the increased activity of specific alleles of the vitamin D receptor and epidemiological data linking vitamin D levels with prostate cancer have stimulated research into possible associations between vitamin D receptor genotype and the development of prostate cancer. 9751364

1998

Entrez Id: 7421
Gene Symbol: VDR
VDR
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
0.700 AlteredExpression BEFREE In this study, we investigated the relationship between sarcopenia (evaluated in term of fibers atrophy), vitamin d receptor protein expression and <i>TaqI/Cdx2/FokI</i> VDR genotypes in an Italian cohort of osteoporosis(n=44) and osteoarthritis (n=55) patients. 30574409

2018

Entrez Id: 7421
Gene Symbol: VDR
VDR
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
0.700 AlteredExpression BEFREE In conclusion, the polymorphism of CTR gene but not VDR and COLIA1 is associated with osteoporosis incidence and the levels of alkaline phosphatase and estradiol. 12016463

2002

Entrez Id: 7421
Gene Symbol: VDR
VDR
CUI: C0035579
Disease: Rickets
Rickets
0.700 AlteredExpression BEFREE Many cellular, preclinical, and observational studies support a role for vitamin D in the pathogenesis of both types of diabetes including: (1) T1D and T2D patients have a higher incidence of hypovitaminosis D; (2) pancreatic tissue (more specifically the insulin-producing beta-cells) as well as numerous cell types of the immune system express the vitamin D receptor (VDR) and vitamin D-binding protein (DBP); and (3) some allelic variations in genes involved in vitamin D metabolism and VDR are associated with glucose (in)tolerance, insulin secretion, and sensitivity, as well as inflammation. 20511061

2010

Entrez Id: 7421
Gene Symbol: VDR
VDR
CUI: C0002170
Disease: Alopecia
Alopecia
0.500 AlteredExpression BEFREE Correlation of vitamin D and vitamin D receptor expression in patients with alopecia areata: a clinical paradigm. 29243839

2018

Entrez Id: 7421
Gene Symbol: VDR
VDR
CUI: C0002170
Disease: Alopecia
Alopecia
0.500 AlteredExpression BEFREE Restoration of VDR expression in the keratinocytes of VDR null mice, prevents the hair cycle defect that leads to the development of alopecia. 11713240

2001

Entrez Id: 7421
Gene Symbol: VDR
VDR
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.400 AlteredExpression BEFREE Women with serum 25(OH)D levels ≤ 30 nmol/L, tissue levels of VDR > 5 ng/mL, and tissue levels of ER-α gene expression > 17.7 copies had significantly increased risk for breast cancer incidence. 30833174

2019

Entrez Id: 7421
Gene Symbol: VDR
VDR
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.400 AlteredExpression BEFREE These results provide the bases for further studies aimed at testing EAG1-dual targeting in breast cancer tumors expressing both EAG1 and the vitamin D receptor. 25280486

2014

Entrez Id: 7421
Gene Symbol: VDR
VDR
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.400 AlteredExpression BEFREE Down-regulation of vitamin D receptor in mammospheres: implications for vitamin D resistance in breast cancer and potential for combination therapy. 23341935

2013

Entrez Id: 7421
Gene Symbol: VDR
VDR
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.400 AlteredExpression BEFREE Alterations in Vitamin D signalling and metabolic pathways in breast cancer progression: a study of VDR, CYP27B1 and CYP24A1 expression in benign and malignant breast lesions. 20831823

2010

Entrez Id: 7421
Gene Symbol: VDR
VDR
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.400 AlteredExpression BEFREE There is a correlation between vitamin-D receptor expression on breast cancer cells and patient survival. 22109882

2012

Entrez Id: 7421
Gene Symbol: VDR
VDR
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.400 AlteredExpression BEFREE Activation of the VDR by vitamin D induces autophagy and an autophagic transcriptional signature in BC cells that correlates with increased survival in patients; strikingly, this signature is present in the normal mammary gland and is progressively lost in patients with metastatic BC. 28242709

2017

Entrez Id: 7421
Gene Symbol: VDR
VDR
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.400 AlteredExpression BEFREE This study found that high expression of VDR in invasive breast tumors is associated with favorable prognostic factors and a low risk of breast cancer death. 31358030

2019

Entrez Id: 7421
Gene Symbol: VDR
VDR
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.400 AlteredExpression BEFREE We determined the expression, DNA binding and transactivation activity of vitamin D3 receptor (VDR) in HBL100 and a vitamin D-sensitive ZR75-1 breast cancer cell line. 10223184

1999

Entrez Id: 7421
Gene Symbol: VDR
VDR
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.400 AlteredExpression BEFREE Role of corticotropin-releasing hormone family peptides in androgen receptor and vitamin D receptor expression and translocation in human breast cancer MCF-7 cells. 22494987

2012

Entrez Id: 7421
Gene Symbol: VDR
VDR
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.400 AlteredExpression BEFREE The vitamin D receptor (VDR) is expressed in normal mammary gland and in many human breast cancers suggesting it may represent an important tumor suppressor gene in this tissue. 28579119

2017

Entrez Id: 7421
Gene Symbol: VDR
VDR
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.400 AlteredExpression BEFREE The top 370 probe sets that were differentially expressed between BCBM and both BC and prBT were in the majority comparably overexpressed in BCBM and included, e.g. the coding genes BCL3, BNIP3, BNIP3P1, BRIP1, CASP14, CDC25A, DMBT1, IDH2, E2F1, MYCN, RAD51, RAD54L, and VDR. 29287594

2017

Entrez Id: 7421
Gene Symbol: VDR
VDR
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.400 AlteredExpression BEFREE 1alphaOHase and VDR mRNA were universally expressed, however, 1alphaOHase expression was significantly down-regulated in adjacent non-cancerous tissue from women with breast cancer in comparison to individuals without cancer. 19331145

2009

Entrez Id: 7421
Gene Symbol: VDR
VDR
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.400 AlteredExpression BEFREE This study was designed to analyze vitamin D receptor level in breast cancer cells as a marker of differentiation and as a predictor of growth inhibition by 1,25-(OH)2-vitamin D3. 7881099

1994

Entrez Id: 7421
Gene Symbol: VDR
VDR
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.400 AlteredExpression BEFREE In a large patient population, VDR expression is inversely associated with more aggressive breast cancer, but not with breast cancer survival outcomes. 27407090

2017

Entrez Id: 7421
Gene Symbol: VDR
VDR
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.400 AlteredExpression BEFREE Overexpression of VDR in breast cancer cells reduced the miR-199a/miR-214 cluster expression by 30%. 27693451

2016

Entrez Id: 7421
Gene Symbol: VDR
VDR
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.400 AlteredExpression BEFREE Because the levels of VDR in MCF-7 breast cancer cells correlate with the antiproliferative effects of 1,25(OH)(2)D(3) and because C/EBPalpha has been suggested as a potential tumor suppressor in breast cancer, these findings provide important mechanisms whereby 1,25(OH)(2)D(3) may act to inhibit growth of breast cancer cells. 19054766

2009