Disorder "Multiple Sclerosis"
Found 16 records
Disorder information
Disorder name:
Multiple Sclerosis 
Disoder ID:
OMIM entry:
Synonyms:
chronic progressive multiple sclerosis (disorder),Generalized multiple sclerosis,insular sclerosis 
Definition:
A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring 
Modifier statisitcs
Record:
16 
Gene:
11 
Variant:
15 
Reference:
Effect type:
Expressivity(16)  
Modifier effect:
Altered severity(6) ,Risk factor(6) ,Altered onset time(3) ,Altered progression of MS(1)  
Modifier gene Variant Effect type Modifier effect Evidence Effect PubMed ID
TYK2 TYK2:c.2783C>T(p.Ala928Val) Expressivity  Risk factor  OR=0.53, P=1.2×10(-9)  Reduced risk of rheumatoid arthritis, systemic lupus erythematosusmore more
TYK2:c.157G>A(p.Ala53Thr) Expressivity  Risk factor  P=0.016  rs55762744 is a rare variant of modest effect on MS risk affecting a subset of patientsmore more
TYK2:c.2051T>G(p.Ile684Ser) Expressivity  Risk factor  OR=0.86, P=4.6×10(-7)  Reduced risk of rheumatoid arthritis, systemic lupus erythematosusmore more
TYK2:c.3310C>G(p.Pro1104Ala) Expressivity  Risk factor  OR=0.66, P=2.3×10(-21)  Reduced risk of rheumatoid arthritis, systemic lupus erythematosusmore more
SPP1 SPP1:c.256-425A>G Expressivity  Altered severity  P=0.009884  SNPs rs6721763 of the ITGA4 and rs6532040 of the SPP1 were found to significantly influence disease severitymore more
PSMG4 PSMG4:p.Trp99Arg Expressivity  Altered severity  P=0.002  Replication analysis identified PSMG4 p.W99R and NLRP5 p.M459I to be associated with disease severity (p=0.002 and 0.008)more more
PDCD1 PDCD1:rs11568821 Expressivity  Altered progression of MS  P=0.002  PD-1 polymorphism is a genetic modifier of the progression of MSmore more
NLRP5 NLRP5:p.Met459Ile Expressivity  Altered severity  P=0.008  Replication analysis identified PSMG4 p.W99R and NLRP5 p.M459I to be associated with disease severity (p=0.002 and 0.008)more more
MIF MIF:c.-270G>C Expressivity  Altered severity  P<0.01  Polymorphic alleles of MIF polymorphisms could act as sex-specific disease modifiers that increase the severity and progression of MS in male Mexican-Mestizo western populationmore more
MIF:c.-270G>C Expressivity  Risk factor  P=4.42×10(-3)  rs755622 polymorphism in promoter region of MIF gene is associated with risk of MS and affects the promoter activity to regulate MIF expression in a sex-specific waymore more
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