Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1589
Gene Symbol: CYP21A2
CYP21A2
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.800 CausalMutation CLINVAR Misregulation effect of a novel allelic variant in the Z promoter region found in cis with the CYP21A2 p.P482S mutation: implications for 21-hydroxylase deficiency. 26184415

2015
Entrez Id: 1589
Gene Symbol: CYP21A2
CYP21A2
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.800 CausalMutation CLINVAR In vitro functional studies of rare CYP21A2 mutations and establishment of an activity gradient for nonclassic mutations improve phenotype predictions in congenital adrenal hyperplasia. 24953648

2015
Entrez Id: 1589
Gene Symbol: CYP21A2
CYP21A2
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.800 CausalMutation CLINVAR Genetic defects of the CYP21A2 gene in girls with premature adrenarche. 25481255

2015
Entrez Id: 1589
Gene Symbol: CYP21A2
CYP21A2
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.800 CausalMutation CLINVAR The spectrum of clinical, hormonal and molecular findings in 280 individuals with nonclassical congenital adrenal hyperplasia caused by mutations of the CYP21A2 gene. 25041270

2015
Entrez Id: 1589
Gene Symbol: CYP21A2
CYP21A2
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.800 CausalMutation CLINVAR The frequency and the effects of 21-hydroxylase gene defects in congenital adrenal hyperplasia patients. 25227725

2014
Entrez Id: 1589
Gene Symbol: CYP21A2
CYP21A2
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.800 CausalMutation CLINVAR Phenotypic variability of hyperandrogenemia in females heterozygous for CYP21A2 mutations. 25538881

2014
Entrez Id: 1589
Gene Symbol: CYP21A2
CYP21A2
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.800 CausalMutation CLINVAR 131I-noriodocholesterol uptake by testicular adrenal rest tumors in a patient with classical 21-hydroxylase deficiency. 25121463

2014
Entrez Id: 1589
Gene Symbol: CYP21A2
CYP21A2
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.800 CausalMutation CLINVAR Functional studies of p.R132C, p.R149C, p.M283V, p.E431K, and a novel c.652-2A>G mutations of the CYP21A2 gene. 24667412

2014
Entrez Id: 1589
Gene Symbol: CYP21A2
CYP21A2
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.800 CausalMutation CLINVAR Functional studies of novel CYP21A2 mutations detected in Norwegian patients with congenital adrenal hyperplasia. 24671123

2014
Entrez Id: 1589
Gene Symbol: CYP21A2
CYP21A2
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.800 CausalMutation CLINVAR A case with combined rare inborn metabolic disorders: congenital adrenal hyperplasia and ornithine transcarbamylase deficiency. 23769969

2013
Entrez Id: 1589
Gene Symbol: CYP21A2
CYP21A2
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.800 CausalMutation CLINVAR Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. 23359698

2013
Entrez Id: 1589
Gene Symbol: CYP21A2
CYP21A2
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.800 CausalMutation CLINVAR A 68-year-old phenotypically male patient with 21-hydroxylase deficiency and concomitant adrenocortical neoplasm producing testosterone and cortisol. 24077358

2013
Entrez Id: 1589
Gene Symbol: CYP21A2
CYP21A2
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.800 CausalMutation CLINVAR Structure-phenotype correlations of human CYP21A2 mutations in congenital adrenal hyperplasia. 23359706

2013
Entrez Id: 1589
Gene Symbol: CYP21A2
CYP21A2
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.800 CausalMutation CLINVAR Investigation of CYP21A2 mutations in Turkish patients with 21-hydroxylase deficiency and a novel founder mutation. 23142378

2013
Entrez Id: 1589
Gene Symbol: CYP21A2
CYP21A2
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.800 CausalMutation CLINVAR Genetic analysis of the CYP21A2 gene in neonatal dried blood spots from children with transiently elevated 17-hydroxyprogesterone. 22313422

2012
Entrez Id: 1589
Gene Symbol: CYP21A2
CYP21A2
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.800 CausalMutation CLINVAR Nonclassic 21-hydroxylase deficiency presenting as endometrial hyperplasia with uterine bleeding in a 67-year-old woman. 22270556

2012
Entrez Id: 1589
Gene Symbol: CYP21A2
CYP21A2
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.800 CausalMutation CLINVAR Three-dimensional structure of steroid 21-hydroxylase (cytochrome P450 21A2) with two substrates reveals locations of disease-associated variants. 22262854

2012
Entrez Id: 1589
Gene Symbol: CYP21A2
CYP21A2
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.800 CausalMutation CLINVAR Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. 20926536

2011
Entrez Id: 1589
Gene Symbol: CYP21A2
CYP21A2
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.800 CausalMutation CLINVAR Functional characterisation of the H365Y mutation of the 21-hydroxylase gene in congenital adrenal hyperplasia. 21134444

2011
Entrez Id: 1589
Gene Symbol: CYP21A2
CYP21A2
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.800 CausalMutation CLINVAR Cardiovascular risk, metabolic profile, and body composition in adult males with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. 21098686

2011
Entrez Id: 1589
Gene Symbol: CYP21A2
CYP21A2
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.800 GeneticVariation CLINVAR Carrier testing for severe childhood recessive diseases by next-generation sequencing. 21228398

2011
Entrez Id: 1589
Gene Symbol: CYP21A2
CYP21A2
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.800 CausalMutation CLINVAR Steroid 21-hydroxylase gene mutational spectrum in 454 Argentinean patients: genotype-phenotype correlation in a large cohort of patients with congenital adrenal hyperplasia. 21609351

2011
Entrez Id: 1589
Gene Symbol: CYP21A2
CYP21A2
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.800 CausalMutation CLINVAR Molecular defects of the CYP21A2 gene in Greek-Cypriot patients with congenital adrenal hyperplasia. 20838032

2011
Entrez Id: 1589
Gene Symbol: CYP21A2
CYP21A2
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.800 CausalMutation CLINVAR Carrier detection and prenatal diagnosis of congenital adrenal hyperplasia must identify 'apparently mild' CYP21A2 alleles which associate neonatal salt-wasting disease. 20661889

2010
Entrez Id: 1589
Gene Symbol: CYP21A2
CYP21A2
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.800 CausalMutation CLINVAR Multiplex ligation-dependent probe amplification (MLPA) assay for the detection of CYP21A2 gene deletions/duplications in congenital adrenal hyperplasia: first technical report. 19263525

2009