Disorder "Crohn's Disease"
Found 11 records
Disorder information
Disorder name:
Crohn's Disease 
Disoder ID:
Synonyms:
Crohn disease, Pediatric Crohn's disease, Granulomatous Colitis, Crohn's disease of large bowel, Crohn's disease of colon 
Definition:
A chronic granulomatous inflammatory disease of the intestines that may affect any part of the gastrointestinal tract from mouth to anus, causing a wide variety of symptoms. It primarily causes abdominal pain, diarrhea which may be bloody, vomiting, or weight loss, but may also cause complications outside of the gastrointestinal tract such as skin rashes, arthritis, inflammation of the eye, tiredness, and lack of concentration. Crohn's disease is thought to be an autoimmune disease, in which the body's immune system attacks the gastrointestinal tract, causing inflammation. 
Modifier statisitcs
Record:
11 
Gene:
Variant:
11 
Reference:
Effect type:
Penetrance(6) ,Expressivity(5)  
Modifier effect:
Altered incidence(6) ,Risk factor(3) ,Altered gene activity(2)  
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.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
SLC22A5 SLC22A5:rs2631370 Expressivity  Altered gene activity  Gene activity study  A common promoter haplotype of OCTN2 regulates the transcriptional rate of OCTN2 and influences the clinical course of CD.more more
SLC22A5:rs34786243 Expressivity  Altered gene activity  Gene activity study  A common promoter haplotype of OCTN2 regulates the transcriptional rate of OCTN2 and influences the clinical course of CD.more more
IL23R IL23R:c.445G>A(p.Gly149Arg) Penetrance  Altered incidence  Assessment of genotype–phenotype assoCIations and gene activity study  Conferring protection against Crohn’s disease with predicted transcriptmore more
IL23R:c.1084G>A(p.Val362Ile) Penetrance  Altered incidence  Assessment of genotype–phenotype assoCIations and gene activity study  Conferring protection against Crohn’s disease with predicted transcriptmore more
DLG5 DLG5:Arg30Gln Penetrance  Altered incidence  OR=0.39, 95% CI: 0.2-0.77, P= 0.006  Have a protective effect in CD susceptibility for female childrenmore more
CUL2 CUL2:c.IVS17+5A>G Penetrance  Altered incidence  Assessment of genotype–phenotype associations and gene activity study  Conferring protection against Crohn’s disease with predicted transcriptmore more
CARD9 CARD9:c.35G>A(p.Ser12Asn) Penetrance  Altered incidence  P<1×10(-16), OR=0.29  Conferring protection against Crohn’s disease with predicted transcriptmore more
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