Annotation Detail
Information
- Associated Genes
- TMEM39A
- Associated Variants
-
rs17758761
(
ENST00000653862.1,
ENST00000635860.2 )
PTPRM c.73+16405G>A ( ENST00000332175.12, ENST00000580170.6 )
PKN2 c.350-5433G>A ( ENST00000370521.8, ENST00000316005.11, ENST00000370513.9 )
GTF2B c.125-9625G>A ( ENST00000370500.10 )
rs1517440
CBLB c.-14-279A>G ( ENST00000394030.8, ENST00000403724.5, ENST00000405772.5 )
TMEM39A p.Ala487Thr (p.A487T) ( ENST00000319172.10 )
rs10045431
rs6887695
CNR1 p.Thr453= (p.T453=) ( ENST00000362094.6, ENST00000369499.3, ENST00000369501.3, ENST00000428600.3, ENST00000468898.2, ENST00000549890.2 )
rs12115114
rs17758761 ( ENST00000635860.2, ENST00000653862.1 )
PTPRM c.73+16405G>A ( ENST00000332175.12, ENST00000580170.6 )
PKN2 c.350-5433G>A ( ENST00000316005.11, ENST00000370513.9, ENST00000370521.8 )
GTF2B c.125-9625G>A ( ENST00000370500.10 )
rs1517440
CBLB c.-14-279A>G ( ENST00000394030.8, ENST00000403724.5, ENST00000405772.5 )
TMEM39A p.Ala487Thr (p.A487T) ( ENST00000319172.10 )
rs10045431
rs6887695
CNR1 p.Thr453= (p.T453=) ( ENST00000362094.6, ENST00000369499.3, ENST00000369501.3, ENST00000428600.3, ENST00000468898.2, ENST00000549890.2 )
rs12115114 - Associated Disease
- Autoimmune Diseases
- Source Database
- DisGeNET
- Description
- Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7538427), EPHA4 (rs1517440), YTHDF3 (rs12115114), ANKFN1 (rs17758761) and PTPRM (rs4798571), which did not reach the threshold of significance in a follow-up of the first genome-wide association study (GWAS) conducted in multiple sclerosis; TMEM39A (rs1132200), which appeared as a newly identified susceptibility gene in the same study; a gene previously reaching GWAS significance in Italy, CBLB (rs9657904); IL12B (rs6887695, rs10045431), a susceptibility gene shared by diverse autoimmune diseases and, finally, another gene showing inconclusive association with multiple sclerosis, CNR1 (rs1049353).
- Pubmed
- 22194214
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2012
Drugs