eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine

HOME
QUERY
- DISEASE
- GENOTYPE
NETWORK
- PHENOTYPE
- GENE
- COMMON
- DISEASE PAIR
DOWNLOAD
SUBMIT CASE
HELP&FAQ
- HELP&FAQ
- CONTACT US


	plasmacytoma

Disease ID	906
Disease	plasmacytoma
Definition	Any discrete, presumably solitary, mass of neoplastic PLASMA CELLS either in BONE MARROW or various extramedullary sites.
Synonym	[m]plasma cell tumor nos [m]plasma cell tumor nos (morphologic abnormality) [m]plasma cell tumors [m]plasma cell tumors (morphologic abnormality) [m]plasma cell tumour nos [m]plasma cell tumours [m]plasmacytoma nos [m]plasmacytoma nos (disorder) bone plasmacytoma monostotic myeloma myeloma - solitary myeloma, solitary plasma cell tumor plasma cell tumor (clinical) plasma cell tumor (morphologic abnormality) plasma cell tumors plasma cell tumour plasma cell tumour (clinical) plasmacytoma (disorder) plasmacytoma (morphologic abnormality) plasmacytoma - disorder plasmacytoma [disease/finding] plasmacytoma nos (disorder) plasmacytoma of bone plasmacytoma, nos plasmacytomas plasmacytomas solitary plasmocytoma plasmocytomas solitary myeloma solitary myeloma (clinical) solitary plasmacytoma solitary plasmacytoma of bone solitary plasmacytoma of bone (morphologic abnormality) tumor, plasma cell tumors, plasma cell
Orphanet	ORPHANET:98282 ORPHANET:86855
DOID	DOID:3721 DOID:6536 DOID:3722
UMLS	C0032131
MeSH	D010954
SNOMED-CT	SNOMEDCT_US_2016_09_01:415112005
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:28) C0026764 \| multiple myeloma \| 30 C0026764 \| myeloma \| 23 C0085404 \| poems syndrome \| 5 C0278619 \| extramedullary plasmacytoma \| 2 C0152025 \| polyneuropathy \| 2 C0035078 \| renal failure \| 2 C0032131 \| plasmacytoma \| 2 C0024314 \| lymphoproliferative disorder \| 1 C0032131 \| solitary myeloma \| 1 C0011633 \| dermatomyositis \| 1 C0007787 \| transient ischemic attacks \| 1 C0011603 \| dermatitis \| 1 C0007102 \| colon cancer \| 1 C0017601 \| glaucoma \| 1 C0010930 \| dacryocystitis \| 1 C0019829 \| hodgkin disease \| 1 C0024299 \| lymphoma \| 1 C0022354 \| obstructive jaundice \| 1 C0008479 \| chondrosarcoma \| 1 C0007787 \| transient ischemic attack \| 1 C0001173 \| gastric outlet obstruction \| 1 C0001418 \| adenocarcinoma \| 1 C0442874 \| neuropathy \| 1 C0029132 \| optic neuropathy \| 1 C0085110 \| severe combined immunodefic \| 1 C0002726 \| amyloidosis \| 1 C0152013 \| lung adenocarcinoma \| 1 C0019618 \| histiocytosis \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:76) 25 \| ABL1 \| 2.044 \| DISEASES 567 \| B2M \| 3.022 \| DISEASES 85316 \| BAGE5 \| 1.043 \| DISEASES 149466 \| C1orf210 \| 1.172 \| DISEASES 841 \| CASP8 \| 1.316 \| DISEASES 930 \| CD19 \| 2.539 \| DISEASES 4345 \| CD200 \| 1.284 \| DISEASES 958 \| CD40 \| 1.189 \| DISEASES 959 \| CD40LG \| 3.788 \| DISEASES 921 \| CD5 \| 2.814 \| DISEASES 974 \| CD79B \| 2.21 \| DISEASES 1122 \| CHML \| 1.603 \| DISEASES 1380 \| CR2 \| 1.163 \| DISEASES 1506 \| CTRL \| 1.183 \| DISEASES 50626 \| CYHR1 \| 2.265 \| DISEASES 1555 \| CYP2B6 \| 1.207 \| DISEASES 55827 \| DCAF6 \| 1.226 \| DISEASES 1719 \| DHFR \| 2.312 \| DISEASES 1763 \| DNA2 \| 1.168 \| DISEASES 5167 \| ENPP1 \| 1.223 \| DISEASES 2261 \| FGFR3 \| 1.611 \| DISEASES 2329 \| FMO4 \| 2.124 \| DISEASES 2335 \| FN1 \| 2.319 \| DISEASES 8928 \| FOXH1 \| 1.338 \| DISEASES 8880 \| FUBP1 \| 1.388 \| DISEASES 11146 \| GLMN \| 1.479 \| DISEASES 2875 \| GPT \| 2.386 \| DISEASES 3005 \| H1F0 \| 2.08 \| DISEASES 3456 \| IFNB1 \| 1.148 \| DISEASES 100423062 \| IGLL5 \| 3.454 \| DISEASES 3559 \| IL2RA \| 1.499 \| DISEASES 3561 \| IL2RG \| 1.138 \| DISEASES 3570 \| IL6R \| 2.028 \| DISEASES 3662 \| IRF4 \| 2.83 \| DISEASES 3683 \| ITGAL \| 1.226 \| DISEASES 3831 \| KLC1 \| 1.075 \| DISEASES 4094 \| MAF \| 1.802 \| DISEASES 4099 \| MAG \| 1.419 \| DISEASES 4100 \| MAGEA1 \| 1.069 \| DISEASES 4111 \| MAGEA12 \| 1.442 \| DISEASES 4101 \| MAGEA2 \| 1.039 \| DISEASES 266740 \| MAGEA2B \| 1.042 \| DISEASES 4170 \| MCL1 \| 1.537 \| DISEASES 4311 \| MME \| 1.459 \| DISEASES 51660 \| MPC1 \| 2.828 \| DISEASES 4354 \| MPP1 \| 4.525 \| DISEASES 4609 \| MYC \| 5.003 \| DISEASES 8131 \| NPRL3 \| 1.147 \| DISEASES 8021 \| NUP214 \| 4.584 \| DISEASES 26254 \| OPTC \| 1.56 \| DISEASES 5079 \| PAX5 \| 2.625 \| DISEASES 103164619 \| PCAT2 \| 1.148 \| DISEASES 5125 \| PCSK5 \| 5.678 \| DISEASES 9260 \| PDLIM7 \| 1.439 \| DISEASES 5238 \| PGM3 \| 2.063 \| DISEASES 80012 \| PHC3 \| 1.177 \| DISEASES 5450 \| POU2AF1 \| 2.519 \| DISEASES 639 \| PRDM1 \| 2.166 \| DISEASES 5788 \| PTPRC \| 3.564 \| DISEASES 5795 \| PTPRJ \| 1.037 \| DISEASES 5820 \| PVT1 \| 5.434 \| DISEASES 5965 \| RECQL \| 1.087 \| DISEASES 6181 \| RPLP2 \| 2.7 \| DISEASES 6188 \| RPS3 \| 1.643 \| DISEASES 6189 \| RPS3A \| 1.195 \| DISEASES 23583 \| SMUG1 \| 3.279 \| DISEASES 6668 \| SP2 \| 2.095 \| DISEASES 6693 \| SPN \| 3.127 \| DISEASES 10274 \| STAG1 \| 1.1 \| DISEASES 6938 \| TCF12 \| 1.068 \| DISEASES 7124 \| TNF \| 1.732 \| DISEASES 5987 \| TRIM27 \| 1.396 \| DISEASES 7422 \| VEGFA \| 2.157 \| DISEASES 26137 \| ZBTB20 \| 1.631 \| DISEASES 84186 \| ZCCHC7 \| 1.888 \| DISEASES 84671 \| ZNF347 \| 2.157 \| DISEASES
Locus	(Waiting for update.)

Disease ID	906
Disease	plasmacytoma
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:28) HP:0006775 \| Multiple myeloma \| 30 HP:0002664 \| Neoplasia \| 4 HP:0002584 \| Intestinal hemorrhage \| 2 HP:0001271 \| Polyneuropathy \| 2 HP:0011857 \| Plasmacytoma \| 2 HP:0002239 \| Gastrointestinal hemorrhage \| 2 HP:0000083 \| Renal insufficiency \| 2 HP:0012531 \| Pain \| 1 HP:0005202 \| Helicobacter pylori infection \| 1 HP:0000405 \| Conductive hearing loss \| 1 HP:0002326 \| TIA \| 1 HP:0011034 \| Amyloid disease \| 1 HP:0030731 \| Carcinoma \| 1 HP:0100727 \| Histiocytosis \| 1 HP:0001138 \| Damaged optic nerve \| 1 HP:0012189 \| Hodgkin disease \| 1 HP:0000501 \| Glaucoma \| 1 HP:0006765 \| Chondrosarcoma \| 1 HP:0002202 \| Pleural effusion \| 1 HP:0005523 \| Lymphoproliferative disorder \| 1 HP:0030078 \| Lung adenocarcinoma \| 1 HP:0000952 \| Yellow skin \| 1 HP:0002953 \| Vertebral compression fractures \| 1 HP:0000620 \| Dacrocystitis \| 1 HP:0002176 \| Spinal cord compression \| 1 HP:0002665 \| Lymphoma \| 1 HP:0003003 \| Colon cancer \| 1 HP:0002756 \| Pathologic fracture \| 1

Disease ID	906
Disease	plasmacytoma
Manually Symptom	UMLS \| Name(Total Manually Symptoms:22) C2364133 \| infection C1963154 \| renal failure C1565489 \| renal insufficiency C1409177 \| paramyloidosis C1373218 \| immunosuppression C1000483 \| anemia C0878544 \| cardiomyopathy C0850497 \| immune deficiency C0752303 \| urological manifestations C0563307 \| igd myeloma C0432487 \| post-transplant lymphoproliferative disorder C0400979 \| biliary tract obstruction C0281479 \| systemic amyloidosis C0268381 \| al amyloidosis C0152025 \| polyneuropathy C0030489 \| paraproteinemia C0026764 \| myeloma C0025202 \| malignant melanomas C0023795 \| hyalinosis cutis et mucosae C0021051 \| immunodeficiency C0007137 \| squamous cell carcinoma C0002726 \| amyloidosis
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:4) C0026764 \| myeloma \| 16 C0152025 \| polyneuropathy \| 2 C0002726 \| amyloidosis \| 1 C0035078 \| renal failure \| 1

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
rs113488022	26071465	673	BRAF	umls:C0032131	BeFree	We analyzed 121 cases, including 26 HCLs, 52 non-HCL splenic lymphomas, 22 chronic lymphocytic leukemias/small lymphocytic lymphomas (CLLs/SLLs), and 21 plasma cell neoplasms (PCNs) for BRAF V600E expression by IHC.	0.000271442	2015	BRAF	7	140753336	A	T,G,C
rs2720709	17395743	5820	PVT1	umls:C0032131	BeFree	These SNPs were genotyped in individuals comprising each pool, and strong evidence for association was found with rs2720709 (P = 0.000021; odds ratio 2.57 [95% CI 1.66-3.96]), which is located in the plasmacytoma variant translocation gene PVT1.	0.001085767	2007	PVT1	8	128046110	G	A

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	906
Disease	plasmacytoma
Case	(Waiting for update.)

Web Analytics Made Easy - StatCounter