Disorder "Esophageal Basaloid Squamous Cell Carcinoma"
Found 5 records
Disorder information
Disorder name:
Esophageal Basaloid Squamous Cell Carcinoma
Disoder ID:
Synonyms:
Basaloid squamous carcinoma of esophagus
Definition:
Squamous cell carcinoma of the esophagus. Disease definition. Esophageal squamous cell carcinoma (ESCC) is a type of esophageal carcinoma (EC; see this term) that can affect any part of the esophagus, but is usually located in the upper or middle third.
Modifier statisitcs
Record:
5
Gene:
3
Variant:
5
Reference:
3
Effect type:
Expressivity(5)
Modifier effect:
Risk factor(5)
Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
---|---|---|---|---|---|---|
TGFB1 | TGFB1:c.74G>C(p.Arg25Pro) | Expressivity | Risk factor | P<0.05 | TGF-β1 RS#1800471G>C polymorphism may be a genetic modifier for developing ESCC in Zhuangese population.more | more |
MTHFR | MTHFR:c.*4485C>T | Expressivity | Risk factor | P=0.048 | MTHFR rs1801133 C>T, rs4845882 G>A and rs4846048 A>G SNPs may be genetic modifiers for developing ESCC in Chinese Han populationmore | more |
MTHFR:c.665C>T(p.Ala222Val) | Expressivity | Risk factor | P=0.011 | MTHFR rs1801133 C>T, rs4845882 G>A and rs4846048 A>G SNPs may be genetic modifiers for developing ESCC in Chinese Han populationmore | more | |
MTHFR:n.-3491T>C | Expressivity | Risk factor | P=0.021 | MTHFR rs1801133 C>T, rs4845882 G>A and rs4846048 A>G SNPs may be genetic modifiers for developing ESCC in Chinese Han populationmore | more | |
LINC00951 | LINC00951:n.1988T>C | Expressivity | Risk factor | Adjusted OR=0.73; 95% CI: 0.63-0.84 | Functional polymorphism rs11752942A>G in lincRNA-uc003opf.1 exon might be a genetic modifier for the development of ESCC.more | more |
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