Disease: Congenital adrenal hyperplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia 		0.200 GeneticVariation disease BEFREE Congenital adrenal hyperplasia (CAH) resulting from steroid 11β-hydroxylase deficiency (11β-OHD) is caused by mutations in the CYP11B1 gene. 30241518 2018
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia 		0.200 GeneticVariation disease BEFREE 11β-Hydroxylase deficiency (11OHD) is a common form of congenital adrenal hyperplasia that has been shown to result from inactivating CYP11B1 mutations, and pathogenic CYP11B2/CYP11B1 chimeras contribute to a minority of cases. 29703198 2018
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia 		0.200 Biomarker disease BEFREE Growth Hormone With Aromatase Inhibitor May Improve Height in CYP11B1 Congenital Adrenal Hyperplasia. 28126912 2017
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia 		0.200 GeneticVariation disease BEFREE The combination of a novel 2 bp deletion mutation and p.D63H in CYP11B1 cause congenital adrenal hyperplasia due to steroid 11β-hydroxylase deficiency. 26806323 2016
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia 		0.200 GeneticVariation disease BEFREE Steroid 11β-hydroxylase deficiency (11β-OHD), one of common cause of congenital adrenal hyperplasia (CAH), is an autosomal recessive disorder characterized by virilization, precocious pseudo-puberty, and hypertension.It is caused by CYP11B1 gene mutation. 25911436 2015
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia 		0.200 GeneticVariation disease BEFREE Chimeric CYP11B2/CYP11B1 causing 11β-hydroxylase deficiency in Chinese patients with congenital adrenal hyperplasia. 26066897 2015
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia 		0.200 Biomarker disease BEFREE Steroid 11β-hydroxylase (CYP11B1) deficiency (11OHD) is the second most common form of congenital adrenal hyperplasia. 26053152 2015
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia 		0.200 GeneticVariation disease BEFREE To describe conflicting gender identities in three karyotypically female siblings with congenital adrenal hyperplasia (CAH) caused by a novel mutation in the CYP11B1 gene, who were assigned as males at birth and followed up to adulthood. 25100385 2014
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia 		0.200 GeneticVariation disease BEFREE Uniparental disomy of chromosome 8 leading to homozygosity of a CYP11B1 mutation in a patient with congenital adrenal hyperplasia: implication for a rare etiology of an autosomal recessive disorder. 24621779 2014
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia 		0.200 GeneticVariation disease BEFREE Mutations in the 11β-hydroxylase (CYP11B1) gene are the second leading cause of congenital adrenal hyperplasia (CAH), an autosomal recessive disorder characterized by adrenal insufficiency, virilization of female external genitalia, and hypertension with or without hypokalemic alkalosis. 23345044 2013
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia 		0.200 Biomarker disease BEFREE Steroid 11β-hydroxylase (CYP11B1) deficiency (11OHD) is the second most common form of congenital adrenal hyperplasia. 23940125 2013
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia 		0.200 GeneticVariation disease BEFREE Two novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11β hydroxylase deficiency in a Tunisian family. 22210247 2012
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia 		0.200 GeneticVariation disease BEFREE We have identified a novel mutant of the CYP11B1 gene in one Vietnamese family associated with phenotypes of congenital adrenal hyperplasia. 22921894 2012
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia 		0.200 Biomarker disease BEFREE Steroid 11beta-hydroxylase (CYP11B1) deficiency (11OHD) is the second most common form of congenital adrenal hyperplasia (CAH). 20089618 2010
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia 		0.200 GeneticVariation disease BEFREE Three novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11Beta-hydroxylase deficiency in a moroccan population. 20523022 2010
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia 		0.200 GeneticVariation disease BEFREE It is further hypothesized that MC2R blockade should allow using lower glucocorticoid doses to treat congenital adrenal hyperplasia (CAH) due to enzyme deficiency of either 21-hydroxylase (CYP21B) or 11-hydroxylase (CYP11B1), thus reaching a better final adult height than with current therapeutic strategies. 19931309 2010
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia 		0.200 Biomarker disease BEFREE Steroid 11-hydroxylase (CYP11B1) deficiency (11OHD) is the second most common form of congenital adrenal hyperplasia (CAH). 19844114 2009
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia 		0.200 Biomarker disease BEFREE Cyp11b1 null mouse, a model of congenital adrenal hyperplasia. 19029289 2009
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia 		0.200 GeneticVariation disease LHGDN Progress in molecular-genetic studies on congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency. 18661760 2008
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia 		0.200 GeneticVariation disease LHGDN Steroid 11beta- hydroxylase deficiency congenital adrenal hyperplasia. 18294861 2008
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia 		0.200 GeneticVariation disease BEFREE 11-beta-hydroxylase deficiency (11betaOHD) is caused by CYP11B1 gene defects and leads to congenital adrenal hyperplasia associated with hypertension. 18663314 2008
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia 		0.200 GeneticVariation disease BEFREE Cosegregation of a novel homozygous CYP11B1 mutation with the phenotype of non-classical congenital adrenal hyperplasia in a consanguineous family. 17124386 2007
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia 		0.200 GeneticVariation disease BEFREE Analyzing the functional and structural consequences of two point mutations (P94L and A368D) in the CYP11B1 gene causing congenital adrenal hyperplasia resulting from 11-hydroxylase deficiency. 16670167 2006
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia 		0.200 GeneticVariation disease BEFREE Steroid 11beta-hydroxylase (CYP11B1) deficiency, an autosomal recessive inherited disease, accounts for 5-8% of congenital adrenal hyperplasia (CAH). 15807871 2005
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia 		0.200 GeneticVariation disease LHGDN Editorial: polymorphisms in CYP11B genes and 11-hydroxylase activity. 15699546 2005