Annotation Detail
Information
- Associated Genes
- IL2RA
- Associated Variants
-
IL2RA c.64+5006A>G
(
ENST00000256876.10,
ENST00000447847.2,
ENST00000697424.1,
ENST00000379959.8,
ENST00000379954.5 )
ENSG00000289694 c.-50-10297A>G, CDC42 c.-50-10297A>G ( ENST00000695859.1, ENST00000695857.1, ENST00000656825.1, ENST00000695798.1, ENST00000667384.2, ENST00000411827.2, ENST00000400259.5, ENST00000662562.2, ENST00000695860.1, ENST00000315554.15, ENST00000695858.1, ENST00000695796.1, ENST00000695797.1, ENST00000344548.8, ENST00000695800.1, ENST00000695799.1 )
LPP c.-9-11346C>A ( ENST00000414139.6, ENST00000420410.6, ENST00000448637.5, ENST00000617246.5, ENST00000618621.5 )
LPP c.-9-11346C>T ( ENST00000414139.6, ENST00000420410.6, ENST00000448637.5, ENST00000617246.5, ENST00000618621.5 )
rs1881457
SLC26A2 c.-26+5433A>G ( ENST00000286298.5 )
NXPH1 c.55-72558G>A ( ENST00000405863.6 )
IL2RA c.64+5006A>G ( ENST00000256876.10, ENST00000379954.5, ENST00000379959.8, ENST00000447847.2, ENST00000697424.1 )
ENSG00000289694 c.-50-10297A>G, CDC42 c.-50-10297A>G ( ENST00000315554.15, ENST00000344548.8, ENST00000400259.5, ENST00000411827.2, ENST00000656825.1, ENST00000662562.2, ENST00000667384.2, ENST00000695796.1, ENST00000695797.1, ENST00000695798.1, ENST00000695799.1, ENST00000695800.1, ENST00000695857.1, ENST00000695858.1, ENST00000695859.1, ENST00000695860.1 )
LPP c.-9-11346C>A ( ENST00000414139.6, ENST00000420410.6, ENST00000448637.5, ENST00000617246.5, ENST00000618621.5 )
LPP c.-9-11346C>T ( ENST00000414139.6, ENST00000420410.6, ENST00000448637.5, ENST00000617246.5, ENST00000618621.5 )
rs1881457
SLC26A2 c.-26+5433A>G ( ENST00000286298.5 )
NXPH1 c.55-72558G>A ( ENST00000405863.6 ) - Associated Disease
- Ichthyosis bullosa of Siemens
- Source Database
- DisGeNET
- Description
- Additionally, three SNPs in immune-related genes (rs1464510-LPP, rs1881457-IL13, rs2104286-IL2RA), one SNP in a neuronal gene (rs2349775-NXPH1) and two SNPs in epithelial genes (rs245051-SLC26A2, rs17837965-CDC42) were weakly associated with total-IBS (Puncorrected<0.05).
- Pubmed
- 24041540
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2014
Drugs