Disorder "Diabetes Mellitus"
Found 16 records
Disorder information
Disorder name:
Diabetes Mellitus
Disoder ID:
Definition:
A group of abnormalities characterized by hyperglycemia and glucose intolerance.
Modifier statisitcs
Record:
16
Gene:
10
Variant:
16
Reference:
8
Effect type:
Expressivity(13)
,Penetrance(3)
Modifier effect:
Risk factor(12)
,Altered incidence(3)
,Altered life span(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| SUMO4 | SUMO4:c.163G>A(p.Val55Met) | Expressivity | Altered life span | P=0.046 | SUMO4 rs237025 polymorphisms contribute to the development of NODM after LT and NODM is a frequent complication that negatively affects patient survival.more | more |
| PDZD7 | PDZD7:c.1576C>T(p.Gln526*) | Expressivity | Risk factor | Pedigree analysis | Mutations in PDZD7 have been described to modify the retinal phenotype of USH2 or have been implicated in digenic USH.more | more |
| PDZD7:c.307G>C(p.Gly103Arg) | Expressivity | Risk factor | Pedigree analysis | Mutations in PDZD7 have been described to modify the retinal phenotype of USH2 or have been implicated in digenic USH.more | more | |
| PDZD7:c.682G>A(p.Gly228Arg) | Expressivity | Risk factor | Pedigree analysis | Mutations in PDZD7 have been described to modify the retinal phenotype of USH2 or have been implicated in digenic USH.more | more | |
| PDZD7:c.854T>G(p.Met285Arg) | Expressivity | Risk factor | Pedigree analysis | Mutations in PDZD7 have been described to modify the retinal phenotype of USH2 or have been implicated in digenic USH.more | more | |
| MTO1 | MTO1 | Penetrance | Altered incidence | Elevated expression in tissues of high metabolic rates including cochlea | Penetrancemore | more |
| mt-tRNAGlu | mt-tRNAGlu:c.A14693G | Penetrance | Altered incidence | Pedigree analysis | The tRNA(Glu) A14693G variant may have a potential modifier role in increasing the penetrance and expressivity of the deafness-associated A1555G mutation in this Chinese pedigree.more | more |
| MitochondrialtRNA | MitochondrialtRNA:c.15927G>A | Penetrance | Altered incidence | Pedigree analysis | The G15927A mutation has a potential modifier role in increasing the penetrance and expressivity of the deafness-associated 12S rRNA A1555G mutation in those Chinese pedigreesmore | more |
| METTL13 | METTL13:p.Arg544Gln | Expressivity | Risk factor | Pedigree analysis | A dominant substitution (p.Arg544Gln) of METTL13 was associated with deafnessmore | more |
| FGF3 | FGF3:c.283C>T(p.Arg95Trp) | Expressivity | Risk factor | Pedigree analysis | We noted a less prominent dental and external ear phenotype in association with the homozygous p.R95Wmore | more |