Annotation Detail

Information
Associated Genes
KIDINS220
Associated Variants
SLC11A1 c.*56_*59delTGTG ( ENST00000233202.11 )
SLC11A1 c.*56_*59delTGTG ( ENST00000233202.11 )
SLC11A1 c.393+14G>C ( ENST00000233202.11 )
SLC11A1 c.393+14G>T ( ENST00000233202.11 )
SLC11A1 p.Asp543Asn (p.D543N) ( ENST00000233202.11 )
SLC11A1 p.Asp543His (p.D543H) ( ENST00000233202.11 )
SLC11A1 c.393+14G>C ( ENST00000233202.11 )
SLC11A1 c.393+14G>T ( ENST00000233202.11 )
SLC11A1 p.Asp543Asn (p.D543N) ( ENST00000233202.11 )
SLC11A1 p.Asp543His (p.D543H) ( ENST00000233202.11 )
KIDINS220 UNKNOWN
KIDINS220 UNKNOWN
Associated Disease
rheumatoid arthritis
Source Database
DisGeNET
Description
We analysed four NRAMP1 gene polymorphisms including 5' promoter (GT)(n) (rs34448891), INT4 (469 + 14G/C) (rs3731865), 3'UTR (1729 + 55del4) (rs17235416) and D543N (codon 543, Asp to Asn) (rs17235409) in 112 patients with TB, 98 patients with RA, 80 healthy controls for TB and 122 healthy controls for RA using ARMS-PCR and PCR-RFLP.
Pubmed
19055603
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000542883744160607
Year of publication
2009
Drugs