Disorder "Neural Tube Defects, Susceptibility To"
Found 5 records
Disorder information
Disorder name:
Neural Tube Defects, Susceptibility To
Disoder ID:
OMIM_182940
OMIM entry:
Definition:
A spina bifida (disease) that is not part of a larger syndrome.
Modifier statisitcs
Record:
5
Gene:
5
Variant:
5
Reference:
2
Effect type:
Expressivity(5)
Modifier effect:
Altered severity(4)
,Risk factor(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| RASSF4 | RASSF4:c.423C>G(p.Ser141Arg) | Expressivity | Altered severity | Pedigree analysis | Contribute to the disease development.more | more |
| PTK7 | PTK7:rs9472017 | Expressivity | Altered severity | Pedigree analysis | Contribute to the disease development.more | more |
| PLCD4 | PLCD4:c.236G>A(p.Arg79His) | Expressivity | Altered severity | Pedigree analysis | Contribute to the disease development.more | more |
| IL4I1 | IL4I1:c.383C>T(p.Thr128Met) | Expressivity | Altered severity | Pedigree analysis | Contribute to the disease development.more | more |
| BHMT | BHMT:c.716G>A(p.Arg239Gln) | Expressivity | Risk factor | OR=0.52, 95% CI: 0.13-2.05 for children and OR=0.37, 95% CI: 0.11-1.22) for mothers | The Q allele of the R239Q mutation may decrease risk of the conditionmore | more |
Total 5,Each Page
,Jump To
Page