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encyclopedia of Rare Disease Annotation for Precision Medicine

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	spermatocytic seminoma

Disease ID	1512
Disease	spermatocytic seminoma
Definition	A rare variant of seminoma characterized by the presence of three cell types: round cells with eosinophilic cytoplasm, small cells with dark nucleus and a small amount of cytoplasm, and mono-or multinucleated giant cells. The neoplastic cells are not cohesive. There is an edematous stroma present; lymphocytic infiltrates are rarely seen. Most patients are older males.
Synonym	spermatocytic seminoma (morphologic abnormality) spermatocytoma testicular spermatocytic seminoma
Orphanet	ORPHANET:99865
DOID	DOID:5834 DOID:7891
UMLS	C0334517
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:1) C1261473 \| sarcoma \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 2261 \| FGFR3 \| CLINVAR
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:43) 174 \| AFP \| 2.505 \| DISEASES 196527 \| ANO6 \| 2.188 \| DISEASES 578 \| BAK1 \| 2.158 \| DISEASES 633 \| BGN \| 1.626 \| DISEASES 1032 \| CDKN2D \| 2.607 \| DISEASES 1045 \| CDX2 \| 1.13 \| DISEASES 11200 \| CHEK2 \| 1.117 \| DISEASES 1443 \| CSH2 \| 1.565 \| DISEASES 541466 \| CT45A1 \| 4.056 \| DISEASES 1485 \| CTAG1B \| 3.382 \| DISEASES 8653 \| DDX3Y \| 2.987 \| DISEASES 1761 \| DMRT1 \| 3.946 \| DISEASES 1789 \| DNMT3B \| 3.376 \| DISEASES 1789 \| DNMT3B \| 1.375 \| DISEASES 2246 \| FGF1 \| 1.337 \| DISEASES 2258 \| FGF13 \| 1.2 \| DISEASES 2254 \| FGF9 \| 2.271 \| DISEASES 2261 \| FGFR3 \| 2.445 \| DISEASES 2543 \| GAGE1 \| 2.887 \| DISEASES 645073 \| GAGE12G \| 3.375 \| DISEASES 2576 \| GAGE4 \| 2.882 \| DISEASES 2719 \| GPC3 \| 1.215 \| DISEASES 4102 \| MAGEA3 \| 1.504 \| DISEASES 51438 \| MAGEC2 \| 3.237 \| DISEASES 4133 \| MAP2 \| 1.599 \| DISEASES 339345 \| NANOS2 \| 4.105 \| DISEASES 342977 \| NANOS3 \| 3.797 \| DISEASES 2516 \| NR5A1 \| 1.738 \| DISEASES 56001 \| NXF2 \| 3.293 \| DISEASES 728343 \| NXF2B \| 3.293 \| DISEASES 7849 \| PAX8 \| 1.253 \| DISEASES 5783 \| PTPN13 \| 2.342 \| DISEASES 5788 \| PTPRC \| 2.748 \| DISEASES 55511 \| SAGE1 \| 4.359 \| DISEASES 144195 \| SLC2A14 \| 1.648 \| DISEASES 30014 \| SPANXA1 \| 4.288 \| DISEASES 6693 \| SPN \| 1.216 \| DISEASES 727837 \| SSX2B \| 2.756 \| DISEASES 6847 \| SYCP1 \| 3.319 \| DISEASES 7258 \| TSPY1 \| 2.336 \| DISEASES 100289087 \| TSPY10 \| 2.372 \| DISEASES 7259 \| TSPYL1 \| 3.796 \| DISEASES 7507 \| XPA \| 1.272 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1512
Disease	spermatocytic seminoma
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:3) HP:0002664 \| Neoplasia \| 2 HP:0100242 \| Sarcoma \| 1 HP:0002716 \| Lymph node hyperplasia \| 1

Disease ID	1512
Disease	spermatocytic seminoma
Manually Symptom	UMLS \| Name(Total Manually Symptoms:1) C1261473 \| sarcomas
Text Mined Symptom	(Waiting for update.)

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

Text Mining Genotype(Total 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
rs78311289	NA	2261	FGFR3	umls:C0334517	CLINVAR	NA	0.12	NA	FGFR3	4	1806162	A	C,G

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	1512
Disease	spermatocytic seminoma
Case	(Waiting for update.)

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