PedAM

Pediatric Disease Annotations & Medicines


	perineurioma

Disease ID	1198
Disease	perineurioma
Definition	A rare, almost always benign tumor composed entirely of neoplastic perineurial cells. It may occur in the soft tissues, intraneurally or in mucosal sites.
Synonym	perineurioma (disorder) perineurioma (morphologic abnormality) perineurioma, nos perineuriomas
Orphanet	ORPHANET:85102
DOID	DOID:4697
UMLS	C0751691
SNOMED-CT	SNOMEDCT_US_2016_09_01:404036006
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:1) C0085113 \| neurofibromatosis \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:45) 1277 \| COL1A1 \| DISEASES 2026 \| ENO2 \| DISEASES 3860 \| KRT13 \| DISEASES 4708 \| NDUFB2 \| DISEASES 968 \| CD68 \| DISEASES 2670 \| GFAP \| DISEASES 2521 \| FUS \| DISEASES 6598 \| SMARCB1 \| DISEASES 64374 \| SIL1 \| DISEASES 3858 \| KRT10 \| DISEASES 81555 \| YIPF5 \| DISEASES 7345 \| UCHL1 \| DISEASES 3815 \| KIT \| DISEASES 6271 \| S100A1 \| DISEASES 9965 \| FGF19 \| DISEASES 4760 \| NEUROD1 \| DISEASES 4286 \| MITF \| DISEASES 27087 \| B3GAT1 \| DISEASES 947 \| CD34 \| DISEASES 4684 \| NCAM1 \| DISEASES 84231 \| TRAF7 \| DISEASES 64764 \| CREB3L2 \| DISEASES 3855 \| KRT7 \| DISEASES 5155 \| PDGFB \| DISEASES 1003 \| CDH5 \| DISEASES 4771 \| NF2 \| DISEASES 7171 \| TPM4 \| DISEASES 55107 \| ANO1 \| DISEASES 6752 \| SSTR2 \| DISEASES 4763 \| NF1 \| DISEASES 126014 \| OSCAR \| DISEASES 4311 \| MME \| DISEASES 6663 \| SOX10 \| DISEASES 1639 \| DCTN1 \| DISEASES 800 \| CALD1 \| DISEASES 7170 \| TPM3 \| DISEASES 6277 \| S100A6 \| DISEASES 2170 \| FABP3 \| DISEASES 7088 \| TLE1 \| DISEASES 1832 \| DSP \| DISEASES 238 \| ALK \| DISEASES 6513 \| SLC2A1 \| DISEASES 4585 \| MUC4 \| DISEASES 23089 \| PEG10 \| DISEASES 90993 \| CREB3L1 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1198
Disease	perineurioma
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:2) HP:0001067 \| Neurofibromas \| 1 HP:0002664 \| Neoplasia \| 1

Disease ID	1198
Disease	perineurioma
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:1)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs113488022	23588369	673	BRAF	umls:C0751691	BeFree	Previous studies demonstrated a high prevalence of a BRAF p.V600E mutation in perineuriomas with serrated crypts and suggested that perineuriomas without crypt serration may represent an unrelated, different type of polyp.	0.000542884	2013	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.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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