Annotation Detail
Information
- Associated Genes
- MMRN1
- Associated Variants
-
OPTN c.552+1091T>C
(
ENST00000378764.6,
ENST00000378752.7,
ENST00000378757.6,
ENST00000378747.8,
ENST00000263036.9,
ENST00000378748.7 )
SLCO1A2 p.Glu172Asp (p.E172D) ( ENST00000683939.1, ENST00000307378.10, ENST00000458504.5 )
rs1701704 ( ENST00000262032.9 )
MAPT c.-17-19975G>A ( ENST00000446361.7, ENST00000262410.10, ENST00000344290.10, ENST00000535772.6, ENST00000334239.12, ENST00000420682.7, ENST00000680674.1, ENST00000351559.10 )
rs6532197
rs4728142
OPTN c.552+1091T>C ( ENST00000263036.9, ENST00000378747.8, ENST00000378748.7, ENST00000378752.7, ENST00000378757.6, ENST00000378764.6 )
SLCO1A2 p.Glu172Asp (p.E172D) ( ENST00000307378.10, ENST00000458504.5, ENST00000683939.1 )
rs1701704 ( ENST00000262032.9 )
MAPT c.-17-19975G>A ( ENST00000262410.10, ENST00000334239.12, ENST00000344290.10, ENST00000351559.10, ENST00000420682.7, ENST00000446361.7, ENST00000535772.6, ENST00000680674.1 )
rs6532197
rs4728142 - Associated Disease
- progressive supranuclear palsy
- Source Database
- DisGeNET
- Description
- We identified novel cisSNP/transcript associations for human disease-associated variants, including progressive supranuclear palsy SLCO1A2/rs11568563, Parkinson's disease (PD) MMRN1/rs6532197, Paget's disease OPTN/rs1561570; and we confirmed others, including PD MAPT/rs242557, systemic lupus erythematosus and ulcerative colitis IRF5/rs4728142, and type 1 diabetes mellitus RPS26/rs1701704.
- Pubmed
- 22685416
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2012
Drugs