Disorder "Type 1 Diabetes Mellitus"
Found 23 records
Disorder information
Disorder name:
Type 1 Diabetes Mellitus
Disoder ID:
OMIM entry:
Synonyms:
type I diabetes mellitus, insulin-dependent diabetes mellitus, IDDM
Definition:
A chronic condition in which the pancreas produces little or no insulin. Type I diabetes mellitus is manifested by the sudden onset of severe hyperglycemia with rapid progression to diabetic ketoacidosis unless treated with insulin.
Modifier statisitcs
Record:
23
Gene:
6
Variant:
11
Reference:
13
Effect type:
Expressivity(23)
Modifier effect:
Risk factor(20)
,Altered susceptibility(2)
,Altered immune response(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| SUMO4 | SUMO4:c.163G>A(p.Val55Met) | Expressivity | Risk factor | P=1.9×10(-7) | A substitution (M55V) at an evolutionarily conserved residue of the crucial CUE domain of SUMO4 was strongly associated with T1Dmore | more |
| SUMO4:c.163G>A(p.Val55Met) | Expressivity | Risk factor | OR=1.42; 95% CI: 1.09-1.84; P=0.0072] | The association of SUMO4 M55V variant was stronger in type 1 diabetic patients complicated with AITDmore | more | |
| PPARG | PPARG:c.34C>G(p.Pro12Ala) | Expressivity | Risk factor | P=0.0045 | The Pro12Ala variant of PPARgamma2 is associated with T1DM, the minor Ala allele conferring a reduced risk.more | more |
| IL6R | IL6R:c.1073A>C(p.Asp358Ala) | Expressivity | Risk factor | Up to 28% reduction per allele; p≤5.6×10(-22) | Functional IL6R 358Ala allele impairs classical IL-6 receptor signaling and influences risk of diverse inflammatory diseases.more | more |
| IFIH1 | IFIH1:c.1641+1G>C | Expressivity | Risk factor | P=0.000044 | Reduced risk of type 1 diabetesmore | more |
| IFIH1:c.1879G>T(p.Glu627*) | Expressivity | Risk factor | OR=0.69, 95% CI: (0.52-0.91), P=9.0×10(-3) | Reduced risk of type 1 diabetesmore | more | |
| IFIH1:c.2767A>G(p.Ile923Val) | Expressivity | Risk factor | OR=0.51, 95% CI: (0.43-0.61), P=1.3×10(-14) | Reduced risk of type 1 diabetesmore | more | |
| IFIH1:c.2807+1G>A | Expressivity | Risk factor | OR=0.74, 95% CI: (0.59-0.94), P=1.2×10(-2) | Reduced risk of type 1 diabetesmore | more | |
| IFIH1:c.1879G>T(p.Glu627*) | Expressivity | Risk factor | OR=0.69, 95% CI: (0.52-0.91), P=9.0×10(-3) | Reduced risk of T1DMmore | more | |
| IFIH1:c.2767A>G(p.Ile923Val) | Expressivity | Risk factor | P=0.0049 | Reduced risk of T1DMmore | more |