eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| oral leukoplakia | ||||
| Disease ID | 1431 |
|---|---|
| Disease | oral leukoplakia |
| Definition | A white patch seen on the oral mucosa. It is considered a premalignant condition and is often tobacco-induced. When evidence of Epstein-Barr virus is present, the condition is called hairy leukoplakia (LEUKOPLAKIA, HAIRY). |
| Synonym | keratosis, oral leucoplakia of oral mucosa leucoplakia of oral mucosa, nos leukokeratoses, oral leukokeratosis of oral mucosa leukokeratosis, oral leukoplakia mouth leukoplakia of mouth leukoplakia of oral mucosa leukoplakia of oral mucosa (disorder) leukoplakia of oral mucosa, nos leukoplakia of the mouth leukoplakia of the oral mucosa leukoplakia oral leukoplakia, oral leukoplakia, oral [disease/finding] leukoplakias, oral mouth leukoplakia oral cavity leukoplakia oral idiopathic keratosis oral idiopathic leukoplakia oral idiopathic white patch oral keratoses oral keratosis oral leucoplakia oral leukokeratoses oral leukokeratosis oral leukoplakias oral leukoplasia oral mucosa leucoplakia nos oral mucosa leukoplakia nos oral mucosa leukoplakia nos (disorder) oral white patch oral white plaque |
| UMLS | C0023532 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:7) C0026640 | oral cancer | 4 C0878500 | epithelial dysplasia | 3 C0023646 | lichen planus | 2 C0002874 | aplastic anemia | 1 C0015625 | fanconi anemia | 1 C0002871 | anaemia | 1 C0011334 | caries | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:8) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1431 |
|---|---|
| Disease | oral leukoplakia |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:6) HP:0000670 | Dental caries | 1 HP:0000695 | Natal teeth | 1 HP:0012224 | Circulating immune complexes | 1 HP:0002664 | Neoplasia | 1 HP:0001903 | Anemia | 1 HP:0001915 | Aplastic anemia | 1 |
| Disease ID | 1431 |
|---|---|
| Disease | oral leukoplakia |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:5) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:4) C1608408 | malignant transformation | 7 C0878500 | epithelial dysplasia | 3 C0009450 | infection | 1 C1518171 | malignant conversion | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:8) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs13181 | 21741876 | 2944 | GSTM1 | umls:C0023532 | BeFree | GSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM1 null, GSTT1 null, rs2031920, rs3813867 (CYP2E1), and rs13181 were associated with OC. | 0.011454097 | 2011 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 21741876 | 2952 | GSTT1 | umls:C0023532 | BeFree | GSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM1 null, GSTT1 null, rs2031920, rs3813867 (CYP2E1), and rs13181 were associated with OC. | 0.006091273 | 2011 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs1695 | 21741876 | 2944 | GSTM1 | umls:C0023532 | BeFree | GSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM1 null, GSTT1 null, rs2031920, rs3813867 (CYP2E1), and rs13181 were associated with OC. | 0.011454097 | 2011 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 21741876 | 2952 | GSTT1 | umls:C0023532 | BeFree | GSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM1 null, GSTT1 null, rs2031920, rs3813867 (CYP2E1), and rs13181 were associated with OC. | 0.006091273 | 2011 | GSTP1 | 11 | 67585218 | A | G |
| rs2031920 | 21741876 | 2952 | GSTT1 | umls:C0023532 | BeFree | GSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM1 null, GSTT1 null, rs2031920, rs3813867 (CYP2E1), and rs13181 were associated with OC. | 0.006091273 | 2011 | CYP2E1 | 10 | 133526341 | C | T |
| rs2031920 | 21741876 | 2944 | GSTM1 | umls:C0023532 | BeFree | GSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM1 null, GSTT1 null, rs2031920, rs3813867 (CYP2E1), and rs13181 were associated with OC. | 0.011454097 | 2011 | CYP2E1 | 10 | 133526341 | C | T |
| rs3813867 | 21741876 | 2944 | GSTM1 | umls:C0023532 | BeFree | GSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM1 null, GSTT1 null, rs2031920, rs3813867 (CYP2E1), and rs13181 were associated with OC. | 0.011454097 | 2011 | CYP2E1 | 10 | 133526101 | G | C |
| rs3813867 | 21741876 | 2952 | GSTT1 | umls:C0023532 | BeFree | GSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM1 null, GSTT1 null, rs2031920, rs3813867 (CYP2E1), and rs13181 were associated with OC. | 0.006091273 | 2011 | CYP2E1 | 10 | 133526101 | G | C |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 1431 |
|---|---|
| Disease | oral leukoplakia |
| Case | (Waiting for update.) |