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:
6
Variant:
11
Reference:
4
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 |