Annotation Detail
Information
- Associated Genes
- COMT
- Associated Variants
-
CYP1A1 p.Ile462Phe (p.I462F)
(
ENST00000617691.4,
ENST00000395049.8,
ENST00000379727.8,
ENST00000567032.5,
ENST00000395048.6 )
CYP1A1 p.Ile462Val (p.I462V) ( ENST00000617691.4, ENST00000567032.5, ENST00000379727.8, ENST00000395049.8, ENST00000395048.6 )
CYP1A1 p.Ile462Leu (p.I462L) ( ENST00000395048.6, ENST00000617691.4, ENST00000395049.8, ENST00000379727.8, ENST00000567032.5 )
CYP1A1 p.Gly45Asp (p.G45D) ( ENST00000395048.6, ENST00000564596.5, ENST00000379727.8, ENST00000395049.8, ENST00000567032.5, ENST00000617691.4 )
COMT p.Val158Met (p.V158M) ( ENST00000361682.11, ENST00000403184.5, ENST00000403710.5, ENST00000406520.7, ENST00000407537.5, ENST00000428707.2, ENST00000449653.5, ENST00000676678.1, ENST00000678255.1, ENST00000678769.1, ENST00000678868.1 )
CYP1B1 p.Val432= (p.V432=) ( ENST00000490576.2, ENST00000494864.1, ENST00000610745.5, ENST00000614273.1, ENST00000714520.1 )
CYP1B1 p.Ala119Ser (p.A119S) ( ENST00000490576.2, ENST00000494864.1, ENST00000610745.5, ENST00000614273.1, ENST00000714520.1 )
CYP1A1 p.Ile462Phe (p.I462F) ( ENST00000379727.8, ENST00000395048.6, ENST00000395049.8, ENST00000567032.5, ENST00000617691.4 )
CYP1A1 p.Ile462Val (p.I462V) ( ENST00000379727.8, ENST00000395048.6, ENST00000395049.8, ENST00000567032.5, ENST00000617691.4 )
CYP1A1 p.Ile462Leu (p.I462L) ( ENST00000379727.8, ENST00000395048.6, ENST00000395049.8, ENST00000567032.5, ENST00000617691.4 )
CYP1A1 p.Gly45Asp (p.G45D) ( ENST00000379727.8, ENST00000395048.6, ENST00000395049.8, ENST00000564596.5, ENST00000567032.5, ENST00000617691.4 )
COMT p.Val158Met (p.V158M) ( ENST00000361682.11, ENST00000403184.5, ENST00000403710.5, ENST00000406520.7, ENST00000407537.5, ENST00000428707.2, ENST00000449653.5, ENST00000676678.1, ENST00000678255.1, ENST00000678769.1, ENST00000678868.1 )
CYP1B1 p.Leu432Val (p.L432V) ( ENST00000490576.2, ENST00000494864.1, ENST00000610745.5, ENST00000614273.1, ENST00000714520.1 )
CYP1B1 p.Ala119Ser (p.A119S) ( ENST00000490576.2, ENST00000494864.1, ENST00000610745.5, ENST00000614273.1, ENST00000714520.1 ) - Associated Disease
- Uterine Fibroids
- Source Database
- DisGeNET
- Description
- The genetic polymorphisms of IVS1+2329C>T and Val158Met loci in COMT, Ile462Val and Gly45Asp loci in CYP1A1 and Ala119Ser loci in CYP1B1 were risk factors for uterine leiomyoma development, and Leu432Val locus in CYB1B1 may be a protective factor.
- Pubmed
- 24320736
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00244297684872273
- Year of publication
- 2013
Drugs