Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1960539
Disease: Aromatase deficiency
Aromatase deficiency 		0.800 GeneticVariation disease BEFREE Notably, mutations in AR, SRD5A2, MAMLD1, WT1, and MAP3K1 have led to hypospadias and only one CYP19A1 mutation caused aromatase deficiency was reported to date. 30550360 2019
CUI: C1960539
Disease: Aromatase deficiency
Aromatase deficiency 		0.800 Biomarker disease BEFREE Aromatase deficiency causes obesity and insulin resistance in aromatase knockout mice and humans with rare mutations of the aromatase gene (CYP19). 30920624 2019
CUI: C1970109
Disease: AROMATASE EXCESS SYNDROME
AROMATASE EXCESS SYNDROME 		0.800 Biomarker disease BEFREE Conclusions We identified a novel duplication at 15q21.2 in AEXS, and found that aromatase inhibitor (AI) plus GH might provide a better growth-promoting approach for AEXS patients. 30530883 2019
CUI: C1960539
Disease: Aromatase deficiency
Aromatase deficiency 		0.800 GeneticVariation disease BEFREE Aromatase Deficiency due to a Homozygous CYP19A1 Mutation in a 46,XX Egyptian Patient with Ambiguous Genitalia. 29324451 2017
CUI: C1970109
Disease: AROMATASE EXCESS SYNDROME
AROMATASE EXCESS SYNDROME 		0.800 Biomarker disease BEFREE CYP19A1 amplification caused increased aromatase activity and estrogen-independent ERα binding to target genes, resulting in CYP19A1<sup>amp</sup> cells showing decreased sensitivity to AI treatment. 28112739 2017
CUI: C1960539
Disease: Aromatase deficiency
Aromatase deficiency 		0.800 GeneticVariation disease BEFREE Since 1991, several molecular CYP19A1 gene alterations associated with aromatase deficiency have been described in both sexes. 25415177 2015
CUI: C1960539
Disease: Aromatase deficiency
Aromatase deficiency 		0.800 GeneticVariation disease BEFREE Splicing CYP19 gene variants causing aromatase deficiency in 46,XX disorder of sexual development (DSD) patients have been reported in a few cases. 26279340 2015
CUI: C1960539
Disease: Aromatase deficiency
Aromatase deficiency 		0.800 GeneticVariation disease BEFREE The man with clinical features of aromatase deficiency had novel compound heterozygous CYP19A1 mutations (Y81C and L451P) that were not found in 50 unrelated persons. 25301327 2015
CUI: C1960539
Disease: Aromatase deficiency
Aromatase deficiency 		0.800 AlteredExpression disease BEFREE To date over 20 subjects have been reported with aromatase deficiency which may manifest during fetal life with maternal virilization and virilization of the external genitalia of a female fetus due to low aromatase activity in the steroid metabolizing fetal-placental unit and thus high androgen levels. 24705274 2014
CUI: C1960539
Disease: Aromatase deficiency
Aromatase deficiency 		0.800 GeneticVariation disease UNIPROT To date over 20 subjects have been reported with aromatase deficiency which may manifest during fetal life with maternal virilization and virilization of the external genitalia of a female fetus due to low aromatase activity in the steroid metabolizing fetal-placental unit and thus high androgen levels. 24705274 2014
CUI: C1970109
Disease: AROMATASE EXCESS SYNDROME
AROMATASE EXCESS SYNDROME 		0.800 GeneticVariation disease BEFREE Recently, several germline rearrangements at 15q21 have been shown to cause overexpression of the aromatase gene CYP19A1 and resulting aromatase excess syndrome. 23625277 2014
CUI: C1970109
Disease: AROMATASE EXCESS SYNDROME
AROMATASE EXCESS SYNDROME 		0.800 Biomarker disease BEFREE Treatment with an aromatase inhibitor appears to benefit patients with AEXS, although long-term safety of this class of drugs remains unknown. 24716396 2014
CUI: C1970109
Disease: AROMATASE EXCESS SYNDROME
AROMATASE EXCESS SYNDROME 		0.800 AlteredExpression disease BEFREE Genomic basis of aromatase excess syndrome: recombination- and replication-mediated rearrangements leading to CYP19A1 overexpression. 24064691 2013
CUI: C1970109
Disease: AROMATASE EXCESS SYNDROME
AROMATASE EXCESS SYNDROME 		0.800 GermlineCausalMutation disease ORPHANET Genomic basis of aromatase excess syndrome: recombination- and replication-mediated rearrangements leading to CYP19A1 overexpression. 24064691 2013
CUI: C1970109
Disease: AROMATASE EXCESS SYNDROME
AROMATASE EXCESS SYNDROME 		0.800 GermlineCausalMutation disease ORPHANET Genotype-phenotype analysis implies that phenotypic severity of AEXS is primarily determined by the expression pattern of CYP19A1 and the chimeric genes and by the structural property of the fused exons with a promoter function (i.e., the presence or the absence of a natural translation start codon). 22319526 2012
CUI: C1960539
Disease: Aromatase deficiency
Aromatase deficiency 		0.800 GermlineCausalMutation disease ORPHANET Aromatase deficiency owing to a functional variant in the placenta promoter and a novel missense mutation in the CYP19A1 gene. 21521281 2011
CUI: C1960539
Disease: Aromatase deficiency
Aromatase deficiency 		0.800 GeneticVariation disease BEFREE Aromatase deficiency owing to a functional variant in the placenta promoter and a novel missense mutation in the CYP19A1 gene. 21521281 2011
CUI: C1970109
Disease: AROMATASE EXCESS SYNDROME
AROMATASE EXCESS SYNDROME 		0.800 GeneticVariation disease BEFREE Aromatase excess syndrome: identification of cryptic duplications and deletions leading to gain of function of CYP19A1 and assessment of phenotypic determinants. 21470988 2011
CUI: C1970109
Disease: AROMATASE EXCESS SYNDROME
AROMATASE EXCESS SYNDROME 		0.800 GermlineCausalMutation disease ORPHANET Aromatase excess syndrome: identification of cryptic duplications and deletions leading to gain of function of CYP19A1 and assessment of phenotypic determinants. 21470988 2011
CUI: C1970109
Disease: AROMATASE EXCESS SYNDROME
AROMATASE EXCESS SYNDROME 		0.800 AlteredExpression disease BEFREE Taken together, these results suggest that PGE(2) via EP(2) and EP(4) activates the cAMP-->PKA-->CREB pathway leading to enhanced CYP19 transcription and increased aromatase activity. 18083712 2008
CUI: C1960539
Disease: Aromatase deficiency
Aromatase deficiency 		0.800 GeneticVariation disease BEFREE This new case of aromatase deficiency sheds new light on the heterogeneity of mutations in the CYP19A1 gene causing loss of function of the aromatase enzyme. 17547681 2007
CUI: C1970109
Disease: AROMATASE EXCESS SYNDROME
AROMATASE EXCESS SYNDROME 		0.800 Biomarker disease BEFREE EGF significantly increased aromatase activity and CYP19 gene transcript in NCI-H295R cells. 16394175 2006
CUI: C1970109
Disease: AROMATASE EXCESS SYNDROME
AROMATASE EXCESS SYNDROME 		0.800 GeneticVariation disease BEFREE 5'-RACE finding points to a potential rearrangement between CYP19 and TRPM7 genes on chromosome 15q21.2 as a cause of AES. 15811932 2005
CUI: C1970109
Disease: AROMATASE EXCESS SYNDROME
AROMATASE EXCESS SYNDROME 		0.800 Biomarker disease BEFREE Aromatase inhibitors successfully treat breast cancer and endometriosis, whereas their roles in endometrial cancer, uterine fibroids, and aromatase excess syndrome are less clear. 16109840 2005
CUI: C1960539
Disease: Aromatase deficiency
Aromatase deficiency 		0.800 Biomarker disease BEFREE This new case of aromatase deficiency confirms previous data on bone maturation and mineralization, and it reveals a high risk for the precocious development of cardiovascular disease in young aromatase-deficient men. 14715828 2004