eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| phyllode tumor | ||||
| Disease ID | 1419 |
|---|---|
| Disease | phyllode tumor |
| Definition | A type of connective tissue neoplasm typically arising from intralobular stroma of the breast. It is characterized by the rapid enlargement of an asymmetric firm mobile mass. Histologically, its leaf-like stromal clefts are lined by EPITHELIAL CELLS. Rare phyllodes tumor of the prostate is also known. |
| Synonym | [m]cystosarcoma phyllodes nos [m]cystosarcoma phyllodes nos (morphologic abnormality) csp cystosarcoma phyllodes cystosarcoma phyllodes, nos cystosarcoma phylloides phyllode tumours phyllodes neoplasm phyllodes tumor phyllodes tumor [disease/finding] phyllodes tumor, nos phyllodes tumors phyllodes tumour phyllodes tumours tumor phyllodes tumor, phyllodes tumors, phyllodes |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0010701 |
| MeSH | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:19) C1261473 | sarcoma | 3 C0007099 | carcinoma in situ | 2 C0678222 | breast carcinoma | 2 C0029463 | osteogenic sarcoma | 1 C0025202 | malignant melanoma | 1 C0020598 | hypoglycemia | 1 C0007124 | ductal carcinoma in situ | 1 C1261473 | sarcomas | 1 C0206644 | fibrous histiocytoma | 1 C0008479 | chondrosarcoma | 1 C1134719 | invasive ductal carcinoma | 1 C0220650 | brain metastases | 1 C0029463 | osteosarcoma | 1 C0021933 | intussusception | 1 C0205945 | spindle cell sarcoma | 1 C0153685 | metastases to the kidney | 1 C0334463 | malignant fibrous histiocytoma | 1 C0025202 | melanoma | 1 C1509147 | histiocytoma | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:6) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1419 |
|---|---|
| Disease | phyllode tumor |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:15) HP:0030731 | Carcinoma | 4 HP:0001548 | Overgrowth | 3 HP:0002664 | Neoplasia | 3 HP:0100242 | Sarcoma | 3 HP:0002669 | Osteosarcoma | 2 HP:0003002 | Breast carcinoma | 2 HP:0002576 | Intussusception | 1 HP:0002861 | Melanoma | 1 HP:0012315 | Histiocytoma | 1 HP:0030075 | Ductal carcinoma in situ | 1 HP:0001943 | Hypoglycemia | 1 HP:0200042 | Skin ulcer | 1 HP:0006765 | Chondrosarcoma | 1 HP:0200058 | Angiosarcoma | 1 HP:0030076 | Lobular carcinoma in situ | 1 |
| Disease ID | 1419 |
|---|---|
| Disease | phyllode tumor |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:2) | |||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Chr | Pos | SNP_Id | RefGene | EnsemblGene | ENCODE_Factor | ENCODE_TFBS | Chromosome_interaction | GTEx_eQTL | SNP_TFBS_affinity_GWAS3D | SNP_miRNA_target_affinity_PolymiRTS | SNP_splicing_effect_Skippy | SNP_splicing_effect_MutPred_Splice | SNP_ns_protein_effect_dbNSFP | SNP_syn_effect_Silva | SNP_phosphorylation_effect_PhosSNP | PhastCons_score | PhyloP_score | GERP++_RS | Segway_state | Ancestral_allele | ESP_AF | ESP_AFR | ESP_AFR | ESP_EUR | TG_ASN | TG_AMR | TG_AFR | TG_EUR | Type | Consequence | bStatistic | EncH3K27Ac | EncH3K4Me1 | EncH3K4Me3 | EncNucleo | OMIM | Clinvar |
| 20 | 62549565 | rs2427554 | NM_025219,DNAJC5 | ENST00000369911,ENSG00000101152 | ENST00000470551,ENSG00000101152 | ENST00000360864,ENSG00000101152 | TFP.POU2F2 | MCV-9 | NA | chr20,62540001,62550000,chr15,102490001,102500000,126,Hi-C | chr20,62540001,62550000,chr20,62300001,62310000,6,Hi-C | chr20,62540001,62550000,chr11,65650001,65660000,8,Hi-C | NA | LM3,1.7409 | LM191,3.3483 | LM214,1.3545 | RCGCANGCGY,19.882 | NA | NA | NA | NA | NA | NA | 0.007 | 0.530 | 0.547 | TF2 | A | NA | NA | NA | 0.470 | 0.800 | 0.410 | 0.510 | 0.220 | RegulatoryFeature |
| 20 | 62559964 | rs817362 | NM_025219,DNAJC5 | ENST00000369911,ENSG00000101152 | ENST00000470551,ENSG00000101152 | ENST00000360864,ENSG00000101152 | NA | NA | chr20,62550001,62560000,chr20,62150001,62160000,27,Hi-C | chr20,62550001,62560000,chr20,62340001,62350000,31,Hi-C | chr20,62550001,62560000,chr19,6700001,6710000,33,Hi-C | chr20,62550001,62560000,chr1,28700001,28710000,39,Hi-C | chr20,62550001,62560000,chr20,62510001,62520000,40,Hi-C | chr20,62550001,62560000,chr20,62390001,62400000,51,Hi-C | chr20,62550001,62560000,chr20,62170001,62180000,87,Hi-C | chr20,62550001,62560000,chr20,62340001,62350000,4,Hi-C | chr20,62550001,62560000,chr17,4940001,4950000,9,Hi-C | chr20,62550001,62560000,chr11,67740001,67750000,15,Hi-C | chr20,62550001,62560000,chr20,62420001,62430000,8,Hi-C | NA | LM31,1.9014 | LM38,2.8098 | LM48,59.892 | LM48,9.3729 | LM63,8.6846 | NA | NA | NA | NA | NA | NA | 0.000 | -1.767 | -6.57 | GE1 | G | NA |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
| Disease ID | 1419 |
|---|---|
| Disease | phyllode tumor |
| Case | (Waiting for update.) |