Annotation Detail
Information
- Associated Genes
- CYP19A1
- Associated Variants
-
PGR c.-413G>A
(
ENST00000619228.2,
ENST00000325455.10,
ENST00000534013.5 )
CYP19A1 c.*19C>T ( ENST00000396404.8, ENST00000396402.6, ENST00000559878.5 )
HSD17B1 p.Gly314Ser (p.G314S) ( ENST00000225929.5, ENST00000585807.6 )
HSD17B1 p.Gly314Arg (p.G314R) ( ENST00000225929.5, ENST00000585807.6 )
ESR1 c.453-397T>C ( ENST00000206249.8, ENST00000338799.9, ENST00000406599.5, ENST00000427531.6, ENST00000440973.5, ENST00000443427.5, ENST00000456483.3 )
PGR c.-413G>A ( ENST00000325455.10, ENST00000534013.5, ENST00000619228.2 )
CYP19A1 c.*19C>T ( ENST00000396402.6, ENST00000396404.8, ENST00000559878.5 )
HSD17B1 p.Gly314Ser (p.G314S) ( ENST00000225929.5, ENST00000585807.6 )
HSD17B1 p.Gly314Arg (p.G314R) ( ENST00000225929.5, ENST00000585807.6 )
ESR1 c.453-397T>C ( ENST00000206249.8, ENST00000338799.9, ENST00000406599.5, ENST00000427531.6, ENST00000440973.5, ENST00000443427.5, ENST00000456483.3 ) - Associated Disease
- endometriosis
- Source Database
- DisGeNET
- Description
- Patients with endometriosis (n = 150) and fertile controls (n = 199) were genotyped for polymorphisms in oestrogen receptor genes ESR1 (rs2234693 - T/C single nucleotide polymorphism (SNP), dinucleotide (TA)(n) repeat) and ESR2 (dinucleotide (CA)(n) repeat), progesterone receptor gene PGR (rs10895068 - G/A SNP, 306-bp Alu-insertion), 17β-hydroxysteroid dehydrogenase type 1 gene HSD17B1 (rs605059 - A/G SNP), and aromatase gene CYP19A1 (rs10046 - C/T SNP, (TTTA)(n) tetranucleotide repeat, 3-bp TCT insertion/deletion polymorphism).
- Pubmed
- 20586553
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.239873124890595
- Year of publication
- 2011
Drugs