Annotation Detail

Information
Associated Genes
PSMC6
Associated Variants
ENSG00000258790 c.*891+13649C>A ( ENST00000540871.5, ENST00000627895.2, ENST00000622405.4, ENST00000628955.1 )
ENSG00000258790 c.*891+13649C>T ( ENST00000622405.4, ENST00000628955.1, ENST00000627895.2, ENST00000540871.5 )
PSMA6 c.-8C>G, ENSG00000258790 c.*891+13751C>G ( ENST00000627895.2, ENST00000540871.5, ENST00000261479.9, ENST00000555764.5, ENST00000553809.5, ENST00000622405.4, ENST00000628955.1 )
PSMA6 c.-8C>T, ENSG00000258790 c.*891+13751C>T ( ENST00000540871.5, ENST00000627895.2, ENST00000553809.5, ENST00000261479.9, ENST00000555764.5, ENST00000622405.4, ENST00000628955.1 )
PSMC6 c.86-104A>G ( ENST00000612399.4, ENST00000445930.7 )
PSMC6 c.86-46C>T ( ENST00000612399.4, ENST00000445930.7 )
PSMA3 c.543+138A>G ( ENST00000216455.9, ENST00000412908.6, ENST00000557508.5 )
ENSG00000258790 c.*891+13649C>A ( ENST00000540871.5, ENST00000622405.4, ENST00000627895.2, ENST00000628955.1 )
ENSG00000258790 c.*891+13649C>T ( ENST00000540871.5, ENST00000622405.4, ENST00000627895.2, ENST00000628955.1 )
PSMA6 c.-8C>G, ENSG00000258790 c.*891+13751C>G ( ENST00000261479.9, ENST00000540871.5, ENST00000553809.5, ENST00000555764.5, ENST00000622405.4, ENST00000627895.2, ENST00000628955.1 )
PSMA6 c.-8C>T, ENSG00000258790 c.*891+13751C>T ( ENST00000261479.9, ENST00000540871.5, ENST00000553809.5, ENST00000555764.5, ENST00000622405.4, ENST00000627895.2, ENST00000628955.1 )
PSMC6 c.86-104A>G ( ENST00000445930.7, ENST00000612399.4 )
PSMC6 c.86-46C>T ( ENST00000445930.7, ENST00000612399.4 )
PSMA3 c.543+138A>G ( ENST00000216455.9, ENST00000412908.6, ENST00000557508.5 )
Associated Disease
asthma
Source Database
DisGeNET
Description
To investigate polymorphisms of proteasomal genes PSMA6 (rs1048990 and rs2277460), PSMC6 (rs2295826 and rs2295827) and PSMA3 (rs2348071) in Lithuanian patients with asthma.
Pubmed
25375907
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2015
Drugs