eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| keratosis, seborrheic | ||||
| Disease ID | 1149 |
|---|---|
| Disease | keratosis, seborrheic |
| Definition | Benign eccrine poromas that present as multiple oval, brown-to-black plaques, located mostly on the chest and back. The age of onset is usually in the fourth or fifth decade. |
| Synonym | basal cell papilloma basosquamous papilloma bcp - basal cell papilloma inverted follicular keratosis keratoses seborrheic keratoses, seborrheic keratosis seborrheic keratosis seborrheica keratosis seborrhoeica keratosis senilis keratosis, seborrheic [disease/finding] pigmented basal cell papilloma seborrheic keratoses seborrheic keratosis seborrheic keratosis (morphologic abnormality) seborrheic keratosis nos seborrheic verruca seborrheic wart seborrheic warts seborrhoeic keratosis seborrhoeic keratosis (disorder) seborrhoeic verruca seborrhoeic wart seborrhoeic warts senile wart senile warts verruca seborrheica verruca seborrhoeica |
| OMIM | |
| DOID | |
| UMLS | C0022603 |
| MeSH | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:15) C0007117 | basal cell carcinoma | 3 C0162855 | mucinosis | 1 C0016436 | folliculitis | 1 C0007114 | skin cancer | 1 C0027962 | melanocytic nevi | 1 C0085113 | neurofibromatosis | 1 C0238246 | hepatic hemangioma | 1 C0007137 | squamous cell carcinoma | 1 C0002991 | dermatofibroma | 1 C0007117 | basal cell carcinomas | 1 C0002173 | follicular mucinosis | 1 C0013595 | eczema | 1 C0699893 | non-melanoma skin cancer | 1 C0025202 | melanoma | 1 C0022602 | actinic keratoses | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:35) 55811 | ADCY10 | 1.139 | DISEASES 488 | ATP2A2 | 1.303 | DISEASES 910 | CD1B | 1.962 | DISEASES 1029 | CDKN2A | 2.333 | DISEASES 387836 | CLEC2A | 4.567 | DISEASES 387836 | CLEC2A | 3.594 | DISEASES 1382 | CRABP2 | 1.847 | DISEASES 1394 | CRHR1 | 1.151 | DISEASES 285381 | DPH3 | 3.668 | DISEASES 9166 | EBAG9 | 1.937 | DISEASES 54583 | EGLN1 | 1.638 | DISEASES 7430 | EZR | 1.041 | DISEASES 2261 | FGFR3 | 3.609 | DISEASES 2312 | FLG | 2.328 | DISEASES 3713 | IVL | 2.832 | DISEASES 3753 | KCNE1 | 2.254 | DISEASES 11202 | KLK8 | 1.948 | DISEASES 3880 | KRT19 | 1.438 | DISEASES 3855 | KRT7 | 1.681 | DISEASES 9500 | MAGED1 | 3.396 | DISEASES 100507436 | MICA | 1.053 | DISEASES 2315 | MLANA | 3.517 | DISEASES 2475 | MTOR | 2.964 | DISEASES 2475 | MTOR | 1.594 | DISEASES 9232 | PTTG1 | 1.508 | DISEASES 6273 | S100A2 | 1.995 | DISEASES 6277 | S100A6 | 1.377 | DISEASES 6278 | S100A7 | 1.642 | DISEASES 29072 | SETD2 | 1.49 | DISEASES 55315 | SLC29A3 | 1.775 | DISEASES 6609 | SMPD1 | 1.212 | DISEASES 7062 | TCHH | 2.594 | DISEASES 7042 | TGFB2 | 1.684 | DISEASES 8742 | TNFSF12 | 1.475 | DISEASES 7158 | TP53BP1 | 1.414 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1149 |
|---|---|
| Disease | keratosis, seborrheic |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:1) HP:0200043 | Verrucae |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:10) HP:0030731 | Carcinoma | 4 HP:0002671 | Basalioma | 3 HP:0030410 | Sebaceous carcinoma | 2 HP:0003764 | Naevus | 2 HP:0000964 | Eczema | 1 HP:0001067 | Neurofibromas | 1 HP:0002860 | Squamous cell carcinoma | 1 HP:0000995 | Beauty mark | 1 HP:0001480 | Freckling | 1 HP:0002861 | Melanoma | 1 |
| Disease ID | 1149 |
|---|---|
| Disease | keratosis, seborrheic |
| 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:7) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104886003 | NA | 5290 | PIK3CA | umls:C0022603 | CLINVAR | NA | 0.36408156 | NA | PIK3CA | 3 | 179218303 | G | A |
| rs104894228 | 23739246 | 3265 | HRAS | umls:C0022603 | BeFree | Furthermore, the HRAS mutations p.G13R (2/58 SK) and p.Q61L (2/58 SK) were found. | 0.000271442 | 2015 | HRAS;LRRC56 | 11 | 534286 | C | T,G,A |
| rs121434568 | 23739246 | 1956 | EGFR | umls:C0022603 | BeFree | We identified a somatic EGFR p.L858R mutation in 1 SK. | 0.000542884 | 2015 | EGFR | 7 | 55191822 | T | G |
| rs121913233 | 23739246 | 3265 | HRAS | umls:C0022603 | BeFree | Furthermore, the HRAS mutations p.G13R (2/58 SK) and p.Q61L (2/58 SK) were found. | 0.000271442 | 2015 | HRAS;LRRC56 | 11 | 533874 | T | G,C,A |
| rs121913279 | NA | 5290 | PIK3CA | umls:C0022603 | CLINVAR | NA | 0.36408156 | NA | PIK3CA | 3 | 179234297 | A | G,T |
| rs121913482 | NA | 2261 | FGFR3 | umls:C0022603 | CLINVAR | NA | 0.255240471 | NA | FGFR3 | 4 | 1801837 | C | T |
| rs121913483 | NA | 2261 | FGFR3 | umls:C0022603 | CLINVAR | NA | 0.255240471 | NA | FGFR3 | 4 | 1801841 | C | G,T |
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:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0200043 | Verrucae | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| Disease ID | 1149 |
|---|---|
| Disease | keratosis, seborrheic |
| Case | (Waiting for update.) |