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	cutaneous neuroendocrine carcinoma

Disease ID	856
Disease	cutaneous neuroendocrine carcinoma
Definition	A carcinoma arising from MERKEL CELLS located in the basal layer of the epidermis and occurring most commonly as a primary neuroendocrine carcinoma of the skin. Merkel cells are tactile cells of neuroectodermal origin and histologically show neurosecretory granules. The skin of the head and neck are a common site of Merkel cell carcinoma, occurring generally in elderly patients. (Holland et al., Cancer Medicine, 3d ed, p1245)
Synonym	[m] merkel cell carcinoma [m]merkel cell carcinoma adult neuroblastoma of the skin anaplastic carcinoma of the skin apudoma of skin apudoma of skin (disorder) cancer, merkel cell carcinoma cell merkels carcinoma neuroendocrine skin carcinoma, merkel cell carcinoma, merkel cell [disease/finding] cell cancer, merkel cell merkel tumors cutaneous apudoma cutaneous neuroendocrine tumor endocrine carcinoma of the skin mcc merkel cell cancer merkel cell cancer of the skin merkel cell carcinoma merkel cell carcinoma (disorder) merkel cell carcinoma (morphologic abnormality) merkel cell carcinoma nos merkel cell skin cancer merkel cell tumor merkel cell tumour merkle tumors neuroendocrine carcinoma of skin neuroendocrine carcinoma of the skin neuroendocrine skin carcinoma neuroendocrine tumor of the skin primary cutaneous neuroendocrine carcinoma primary small cell carcinoma of the skin primary undifferentiated carcinoma of the skin skin cancer, neuroendocrine carcinoma small cell neuroepithelial tumor of the skin trabecular cancer trabecular carcinoma of the skin trabecular cell carcinoma of skin trabecular skin carcinoma tumor, merkel cell tumors, merkle
Orphanet	ORPHANET:79140
OMIM	OMIM:159350
DOID	DOID:3965
UMLS	C0007129
MeSH	D015266
SNOMED-CT	SNOMEDCT_US_2016_09_01:254729005;SNOMEDCT_US_2016_09_01:253001006
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:26) C0206695 \| neuroendocrine carcinoma \| 10 C0206754 \| neuroendocrine tumor \| 8 C0042769 \| virus infection \| 3 C0007137 \| squamous cell carcinoma \| 3 C0023434 \| chronic lymphocytic leukaemia \| 2 C0023448 \| lymphocytic leukaemia \| 2 C0014522 \| epidermodysplasia verruciformis \| 2 C0023418 \| leukaemia \| 2 C0023448 \| lymphocytic leukemia \| 1 C0022972 \| myasthenic syndrome \| 1 C0206656 \| embryonal rhabdomyosarcoma \| 1 C0007099 \| carcinoma in situ \| 1 C0334254 \| lymphoepithelioma \| 1 C0035412 \| rhabdomyosarcoma \| 1 C0023434 \| chronic lymphocytic leukemia \| 1 C0035335 \| retinoblastoma \| 1 C0029401 \| paget's disease \| 1 C1275217 \| vulvar paget's disease \| 1 C0085113 \| neurofibromatosis \| 1 C0023418 \| leukemia \| 1 C1704214 \| xanthogranuloma \| 1 C0022602 \| actinic keratosis \| 1 C0024299 \| lymphomas \| 1 C0036202 \| sarcoid \| 1 C0022972 \| lambert-eaton myasthenic syndrome \| 1 C0376358 \| prostate cancer \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 4609 \| MYC \| CTD_human 6392 \| SDHD \| CLINVAR
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:67) 340273 \| ABCB5 \| 1.179 \| DISEASES 648 \| BMI1 \| 1.583 \| DISEASES 796 \| CALCA \| 1.845 \| DISEASES 9332 \| CD163 \| 1.815 \| DISEASES 4345 \| CD200 \| 1.584 \| DISEASES 29126 \| CD274 \| 3.351 \| DISEASES 951 \| CD37 \| 1.218 \| DISEASES 921 \| CD5 \| 1.448 \| DISEASES 4267 \| CD99 \| 2.743 \| DISEASES 1029 \| CDKN2A \| 2.119 \| DISEASES 23373 \| CRTC1 \| 1.09 \| DISEASES 29119 \| CTNNA3 \| 1.317 \| DISEASES 1791 \| DNTT \| 2.529 \| DISEASES 23136 \| EPB41L3 \| 1.176 \| DISEASES 2130 \| EWSR1 \| 2.022 \| DISEASES 2272 \| FHIT \| 1.046 \| DISEASES 2313 \| FLI1 \| 1.6 \| DISEASES 221937 \| FOXK1 \| 2.761 \| DISEASES 4303 \| FOXO4 \| 2.189 \| DISEASES 2736 \| GLI2 \| 1.367 \| DISEASES 2737 \| GLI3 \| 2.118 \| DISEASES 3185 \| HNRNPF \| 1.891 \| DISEASES 8517 \| IKBKG \| 1.21 \| DISEASES 11127 \| KIF3A \| 1.459 \| DISEASES 3838 \| KPNA2 \| 1.416 \| DISEASES 3875 \| KRT18 \| 1.712 \| DISEASES 3880 \| KRT19 \| 2.135 \| DISEASES 3855 \| KRT7 \| 4.101 \| DISEASES 25802 \| LMOD1 \| 1.503 \| DISEASES 84441 \| MAML2 \| 1.047 \| DISEASES 10046 \| MAMLD1 \| 1.574 \| DISEASES 4133 \| MAP2 \| 1.574 \| DISEASES 4163 \| MCC \| 3.689 \| DISEASES 57591 \| MKL1 \| 3.383 \| DISEASES 57496 \| MKL2 \| 1.995 \| DISEASES 2315 \| MLANA \| 1.741 \| DISEASES 118856 \| MMP21 \| 2.313 \| DISEASES 8510 \| MMP23B \| 2.049 \| DISEASES 4356 \| MPP3 \| 1.977 \| DISEASES 4485 \| MST1 \| 1.333 \| DISEASES 4582 \| MUC1 \| 1.387 \| DISEASES 4588 \| MUC6 \| 1.278 \| DISEASES 4609 \| MYC \| 1.481 \| DISEASES 7080 \| NKX2-1 \| 4.76 \| DISEASES 4821 \| NKX2-2 \| 1.178 \| DISEASES 344022 \| NOTO \| 1.559 \| DISEASES 4857 \| NOVA1 \| 1.792 \| DISEASES 594857 \| NPS \| 1.785 \| DISEASES 5079 \| PAX5 \| 3.413 \| DISEASES 9659 \| PDE4DIP \| 2.271 \| DISEASES 5454 \| POU3F2 \| 2.198 \| DISEASES 5515 \| PPP2CA \| 1.154 \| DISEASES 9989 \| PPP4R1 \| 2.865 \| DISEASES 158471 \| PRUNE2 \| 2.027 \| DISEASES 5788 \| PTPRC \| 2.281 \| DISEASES 5793 \| PTPRG \| 1.64 \| DISEASES 9770 \| RASSF2 \| 1.576 \| DISEASES 6336 \| SCN10A \| 1.083 \| DISEASES 5268 \| SERPINB5 \| 1.141 \| DISEASES 6611 \| SMS \| 1.881 \| DISEASES 23583 \| SMUG1 \| 2.818 \| DISEASES 6664 \| SOX11 \| 1.005 \| DISEASES 51684 \| SUFU \| 1.001 \| DISEASES 7161 \| TP73 \| 1.014 \| DISEASES 7163 \| TPD52 \| 1.307 \| DISEASES 23339 \| VPS39 \| 3.896 \| DISEASES 10269 \| ZMPSTE24 \| 1.177 \| DISEASES
Locus	(Waiting for update.)

Disease ID	856
Disease	cutaneous neuroendocrine carcinoma
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:16) HP:0030447 \| Cutaneous APUDoma \| 18 HP:0002664 \| Neoplasia \| 5 HP:0002860 \| Squamous cell carcinoma \| 3 HP:0002835 \| Aspiration \| 2 HP:0002239 \| Gastrointestinal hemorrhage \| 2 HP:0002584 \| Intestinal hemorrhage \| 2 HP:0030731 \| Carcinoma \| 2 HP:0200042 \| Skin ulcer \| 1 HP:0005550 \| Chronic lymphatic leukemia \| 1 HP:0002716 \| Lymph node hyperplasia \| 1 HP:0009919 \| Retinoblastoma \| 1 HP:0001909 \| Leukemia \| 1 HP:0002859 \| Rhabdomyosarcoma \| 1 HP:0012125 \| Prostate cancer \| 1 HP:0001067 \| Neurofibromas \| 1 HP:0006743 \| Embryonal rhabdomyosarcoma \| 1

Disease ID	856
Disease	cutaneous neuroendocrine carcinoma
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:2) C2698045 \| merkel cell polyomavirus infection \| 3 C0009450 \| infection \| 2

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
rs11214077	NA	6392	SDHD	umls:C0007129	CLINVAR	NA	0.12	NA	SDHD;TIMM8B	11	112087953	A	G
rs3822214	21498700	3815	KIT	umls:C0007129	BeFree	Identification of the M541L sequence variation of the transmembrane KIT domain in Merkel cell carcinoma.	0.007348794	2011	KIT	4	54727298	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	856
Disease	cutaneous neuroendocrine carcinoma
Case	(Waiting for update.)

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