Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1591
Gene Symbol: CYP24A1
CYP24A1 		0.700 Biomarker disease GENOMICS_ENGLAND Mitochondrial medicine in the omics era. 29903433 2018
Entrez Id: 1591
Gene Symbol: CYP24A1
CYP24A1 		0.700 GeneticVariation disease CLINVAR Calcium pyrophosphate deposition disease revealing a hypersensitivity to vitamin D. 28109821 2017
Entrez Id: 1591
Gene Symbol: CYP24A1
CYP24A1 		0.700 CausalMutation disease CLINVAR Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis. 26787776 2016
Entrez Id: 1591
Gene Symbol: CYP24A1
CYP24A1 		0.700 CausalMutation disease CLINVAR Mutational Spectrum of CYP24A1 Gene in a Cohort of Italian Patients with Idiopathic Infantile Hypercalcemia. 27394135 2016
Entrez Id: 1591
Gene Symbol: CYP24A1
CYP24A1 		0.700 CausalMutation disease CLINVAR Discordant Clinical Course of Vitamin-D-Hydroxylase (CYP24A1) Associated Hypercalcemia in Two Adult Brothers With Nephrocalcinosis. 26304832 2015
Entrez Id: 1591
Gene Symbol: CYP24A1
CYP24A1 		0.700 CausalMutation disease CLINVAR CYP24A1 Mutations in a Cohort of Hypercalcemic Patients: Evidence for a Recessive Trait. 26214117 2015
Entrez Id: 1591
Gene Symbol: CYP24A1
CYP24A1 		0.700 GeneticVariation disease CLINVAR CYP24A1 Mutations in a Cohort of Hypercalcemic Patients: Evidence for a Recessive Trait. 26214117 2015
Entrez Id: 1591
Gene Symbol: CYP24A1
CYP24A1 		0.700 CausalMutation disease CLINVAR Maternal Hypercalcemia Due to Failure of 1,25-Dihydroxyvitamin-D3 Catabolism in a Patient With CYP24A1 Mutations. 26097993 2015
Entrez Id: 1591
Gene Symbol: CYP24A1
CYP24A1 		0.700 CausalMutation disease CLINVAR Calcium and bone homeostasis in heterozygous carriers of CYP24A1 mutations: A cross-sectional study. 26117226 2015
Entrez Id: 1591
Gene Symbol: CYP24A1
CYP24A1 		0.700 CausalMutation disease CLINVAR Kidney function and influence of sunlight exposure in patients with impaired 24-hydroxylation of vitamin D due to CYP24A1 mutations. 25446019 2015
Entrez Id: 1591
Gene Symbol: CYP24A1
CYP24A1 		0.700 CausalMutation disease CLINVAR Maternal and infantile hypercalcemia caused by vitamin-D-hydroxylase mutations and vitamin D intake. 25194629 2015
Entrez Id: 1591
Gene Symbol: CYP24A1
CYP24A1 		0.700 CausalMutation disease CLINVAR A lifetime of hypercalcemia and hypercalciuria, finally explained. 24423361 2014
Entrez Id: 1591
Gene Symbol: CYP24A1
CYP24A1 		0.700 CausalMutation disease CLINVAR CYP24A1 mutation leading to nephrocalcinosis. 24875559 2014
Entrez Id: 1591
Gene Symbol: CYP24A1
CYP24A1 		0.700 CausalMutation disease CLINVAR "A Case of ""Late-Onset"" Idiopathic Infantile Hypercalcemia Secondary to Mutations in the CYP24A1 Gene." 24518185 2014
Entrez Id: 1591
Gene Symbol: CYP24A1
CYP24A1 		0.700 CausalMutation disease CLINVAR 1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis. 23293122 2013
Entrez Id: 1591
Gene Symbol: CYP24A1
CYP24A1 		0.700 CausalMutation disease CLINVAR Loss-of-function mutations of CYP24A1, the vitamin D 24-hydroxylase gene, cause long-standing hypercalciuric nephrolithiasis and nephrocalcinosis. 23470222 2013
Entrez Id: 1591
Gene Symbol: CYP24A1
CYP24A1 		0.700 CausalMutation disease CLINVAR Severe hypercalcemic crisis in an infant with idiopathic infantile hypercalcemia caused by mutation in CYP24A1 gene. 23001465 2013
Entrez Id: 1591
Gene Symbol: CYP24A1
CYP24A1 		0.700 CausalMutation disease CLINVAR Intravenous pamidronate in the treatment of severe idiopathic infantile hypercalcemia. 23485543 2013
Entrez Id: 1591
Gene Symbol: CYP24A1
CYP24A1 		0.700 CausalMutation disease CLINVAR Genetic defect in CYP24A1, the vitamin D 24-hydroxylase gene, in a patient with severe infantile hypercalcemia. 22112808 2012
Entrez Id: 1591
Gene Symbol: CYP24A1
CYP24A1 		0.700 GermlineCausalMutation disease ORPHANET Mutations in CYP24A1 and idiopathic infantile hypercalcemia. 21675912 2011
Entrez Id: 1591
Gene Symbol: CYP24A1
CYP24A1 		0.700 Biomarker disease GENOMICS_ENGLAND CYP24A1 mutations in idiopathic infantile hypercalcemia. 22047572 2011
Entrez Id: 1591
Gene Symbol: CYP24A1
CYP24A1 		0.700 CausalMutation disease CLINVAR Mutations in CYP24A1 and idiopathic infantile hypercalcemia. 21675912 2011
Entrez Id: 1591
Gene Symbol: CYP24A1
CYP24A1 		0.700 GeneticVariation disease UNIPROT Mutations in CYP24A1 and idiopathic infantile hypercalcemia. 21675912 2011
Entrez Id: 1591
Gene Symbol: CYP24A1
CYP24A1 		0.700 CausalMutation disease CLINVAR CYP24A1 mutations in idiopathic infantile hypercalcemia. 22047572 2011
Entrez Id: 1591
Gene Symbol: CYP24A1
CYP24A1 		0.700 Biomarker disease CTD_human