Annotation Detail
Information
- Associated Genes
- ADGRE1
- Associated Variants
-
RTN3 p.Val471Ala (p.V471A)
(
ENST00000540798.5,
ENST00000341307.6,
ENST00000377819.10,
ENST00000339997.8,
ENST00000537981.5,
ENST00000354497.4,
ENST00000356000.7 )
ADGRE1 p.Lys496Gln (p.K496Q) ( ENST00000250572.12, ENST00000312053.9, ENST00000381404.8, ENST00000381407.9, ENST00000450315.7 )
ADGRE1 p.Ile539Val (p.I539V) ( ENST00000250572.12, ENST00000312053.9, ENST00000381404.8, ENST00000381407.9, ENST00000450315.7 )
G6PD p.Asn126Tyr (p.N126Y) ( ENST00000369620.6, ENST00000393562.10, ENST00000393564.7, ENST00000439227.6, ENST00000696420.1, ENST00000696421.1, ENST00000696429.1, ENST00000696430.1 )
G6PD p.Asn126Asp (p.N126D) ( ENST00000369620.6, ENST00000393562.10, ENST00000393564.7, ENST00000439227.6, ENST00000696420.1, ENST00000696421.1, ENST00000696429.1, ENST00000696430.1 )
G6PD p.Val68Met (p.V68M) ( ENST00000369620.6, ENST00000393562.10, ENST00000393564.7, ENST00000439227.6, ENST00000696420.1, ENST00000696421.1, ENST00000696429.1, ENST00000696430.1 )
RTN3 p.Val471Ala (p.V471A) ( ENST00000339997.8, ENST00000341307.6, ENST00000354497.4, ENST00000356000.7, ENST00000377819.10, ENST00000537981.5, ENST00000540798.5 )
ADGRE1 p.Lys496Gln (p.K496Q) ( ENST00000250572.12, ENST00000312053.9, ENST00000381404.8, ENST00000381407.9, ENST00000450315.7 )
ADGRE1 p.Ile539Val (p.I539V) ( ENST00000250572.12, ENST00000312053.9, ENST00000381404.8, ENST00000381407.9, ENST00000450315.7 )
G6PD p.Asn126Tyr (p.N126Y) ( ENST00000369620.6, ENST00000393562.10, ENST00000393564.7, ENST00000439227.6, ENST00000696420.1, ENST00000696421.1, ENST00000696429.1, ENST00000696430.1 )
G6PD p.Asn126Asp (p.N126D) ( ENST00000369620.6, ENST00000393562.10, ENST00000393564.7, ENST00000439227.6, ENST00000696420.1, ENST00000696421.1, ENST00000696429.1, ENST00000696430.1 )
G6PD p.Val68Met (p.V68M) ( ENST00000369620.6, ENST00000393562.10, ENST00000393564.7, ENST00000439227.6, ENST00000696420.1, ENST00000696421.1, ENST00000696429.1, ENST00000696430.1 ) - Associated Disease
- anemia
- Source Database
- DisGeNET
- Description
- Meanwhile, individuals with the EMR1 rs373533 GT, EMR1 rs461645 CT and RTN3 rs542998 (additive C) genotypes were more susceptible to hyperpyrexia while both females and males with the rs1050828 and rs1050829 SNPs of G6PD, respectively, were more vulnerable to anaemia.
- Pubmed
- 24934404
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2014
Drugs