eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| atypical mole | ||||
| Disease ID | 1771 |
|---|---|
| Disease | atypical mole |
| Definition | A large pigmented lesion measuring 5-15 mm in diameter with irregular, notched, and ill defined border and with color that may range from tan to dark brown to pink. [HPO:probinson] |
| Synonym | [m] dysplastic naevus [m] dysplastic nevus [m]dysplastic naevus [m]dysplastic nevus atypical naevus atypical naevus of skin atypical nevi atypical nevis atypical nevus atypical nevus of skin clark nevus clark's nevus dn - dysplastic naevus dn - dysplastic nevus dysplastic naevus dysplastic naevus (disorder) dysplastic naevus of skin dysplastic nevi dysplastic nevis dysplastic nevus dysplastic nevus (morphologic abnormality) dysplastic nevus of skin dysplastic nevus of skin (disorder) lentiginous nevus naevus dysplastic nevi, dysplastic nevus with architectural disorder nevus with architectural disorder and cytologic atypia of melanocytes nevus, dysplastic |
| DOID | |
| UMLS | C0205748 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:10) C0025202 | melanoma | 12 C0025202 | melanomas | 7 C0025202 | malignant melanoma | 3 C1318558 | congenital melanocytic nevus | 1 C0007117 | basal cell carcinoma | 1 C0278883 | metastatic melanoma | 1 C0085106 | hailey-hailey disease | 1 C0007117 | basal cell carcinomas | 1 C0022593 | keratosis | 1 C0022603 | seborrheic keratosis | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1771 |
|---|---|
| Disease | atypical mole |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:7) HP:0002861 | Melanoma | 13 HP:0000995 | Beauty mark | 2 HP:0002664 | Neoplasia | 1 HP:0002671 | Basalioma | 1 HP:0003764 | Naevus | 1 HP:0001062 | Atypical nevus | 1 HP:0000992 | Skin photosensitivity | 1 |
| Disease ID | 1771 |
|---|---|
| Disease | atypical mole |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:2) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:2) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104894094 | 23711066 | 1029 | CDKN2A | umls:C0205748 | BeFree | Among patients with melanoma genetically tested, CDKN2A G101W mutation carriers were more frequently younger (P = 0.023), with clinically atypical nevi (P = 0.050), with cytological atypia (P = 0.033) at confocal. | 0.006710102 | 2013 | CDKN2A | 9 | 21971058 | C | G,A |
| rs113488022 | 25607474 | 673 | BRAF | umls:C0205748 | BeFree | BRAF wild-type melanoma in situ arising in a BRAF V600E mutant dysplastic nevus. | 0.001628651 | 2015 | BRAF | 7 | 140753336 | A | T,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 | 1771 |
|---|---|
| Disease | atypical mole |
| Case | (Waiting for update.) |