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	pilomatrixoma

Disease ID	416
Disease	pilomatrixoma
Definition	A tumor composed of cells resembling those of the hair matrix, which undergo 'mummification' and may calcify. It is a relatively uncommon tumor, which may occur at any age from infancy. The majority of patients are under 20, and females are affected more than males. The lesion is usually a solitary deep dermal or subcutaneous tumor 3-30 mm in diameter, situated in the head, neck, or upper extremity. (From Rook et al., Textbook of Dermatology, 4th ed, p2401)
Synonym	[m]pilomatrixoma benign calcifying epithelioma benign calcifying epithelioma of malherbe benign hair follicle neoplasm benign pilomatricoma benign pilomatrixoma calcifying epithelioma malherbe calcifying epithelioma of malherbe calcifying epitherlioma of malherbe epithelioma calcificans of malherbe malherbe calcifying epithelioma pilomatricoma pilomatricoma, benign pilomatricomas pilomatrixoma (disorder) pilomatrixoma (morphologic abnormality) pilomatrixoma [disease/finding] pilomatrixoma, benign pilomatrixoma, nos ptr
Orphanet	ORPHANET:91414
OMIM	OMIM:132600
DOID	DOID:5374
UMLS	C0206711
MeSH	D018296
SNOMED-CT	SNOMEDCT_US_2016_09_01:274901004
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:9) C0041408 \| turner syndrome \| 4 C0796004 \| kabuki syndrome \| 1 C0001418 \| adenocarcinoma \| 1 C0041341 \| tuberous sclerosis \| 1 C0007097 \| epithelioma \| 1 C0035934 \| rubinstein-taybi syndrome \| 1 C1153706 \| uterine adenocarcinoma \| 1 C0854914 \| bilateral retinoblastoma \| 1 C0006142 \| breast cancer \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 1499 \| CTNNB1 \| CLINVAR;CTD_human;GHR;ORPHANET;UNIPROT 4595 \| MUTYH \| CTD_human
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:32) 650 \| BMP2 \| 2.482 \| DISEASES 387836 \| CLEC2A \| 4.65 \| DISEASES 1499 \| CTNNB1 \| 4.597 \| DISEASES 23405 \| DICER1 \| 1.239 \| DISEASES 2274 \| FHL2 \| 1.727 \| DISEASES 2312 \| FLG \| 2.629 \| DISEASES 221937 \| FOXK1 \| 2.305 \| DISEASES 2591 \| GALNT3 \| 2.563 \| DISEASES 2900 \| GRIK4 \| 2.486 \| DISEASES 2932 \| GSK3B \| 1.774 \| DISEASES 26762 \| HAVCR1 \| 1.385 \| DISEASES 164045 \| HFM1 \| 3.196 \| DISEASES 3713 \| IVL \| 2.162 \| DISEASES 3875 \| KRT18 \| 1.815 \| DISEASES 3880 \| KRT19 \| 2.732 \| DISEASES 3855 \| KRT7 \| 2.32 \| DISEASES 2315 \| MLANA \| 1.845 \| DISEASES 4311 \| MME \| 2.038 \| DISEASES 378884 \| NHLRC1 \| 2.066 \| DISEASES 64324 \| NSD1 \| 1.902 \| DISEASES 5017 \| OVOL1 \| 3.355 \| DISEASES 5424 \| POLD1 \| 2.404 \| DISEASES 5426 \| POLE \| 2.14 \| DISEASES 5744 \| PTHLH \| 1.591 \| DISEASES 6273 \| S100A2 \| 2.236 \| DISEASES 6274 \| S100A3 \| 3.291 \| DISEASES 6277 \| S100A6 \| 1.618 \| DISEASES 23583 \| SMUG1 \| 1.124 \| DISEASES 6696 \| SPP1 \| 1.333 \| DISEASES 7062 \| TCHH \| 3.815 \| DISEASES 10810 \| WASF3 \| 2.241 \| DISEASES 25937 \| WWTR1 \| 2.154 \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) CTNNB1 \| 3p22.1

Disease ID	416
Disease	pilomatrixoma
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:7) HP:0002835 \| Aspiration \| 1 HP:0003002 \| Breast carcinoma \| 1 HP:0030731 \| Carcinoma \| 1 HP:0200036 \| Skin nodule \| 1 HP:0011986 \| Ectopic bone formation \| 1 HP:0001007 \| Hirsutism \| 1 HP:0002664 \| Neoplasia \| 1

Disease ID	416
Disease	pilomatrixoma
Manually Symptom	UMLS \| Name(Total Manually Symptoms:1) C0206711 \| calcifying epithelioma of malherbe
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0206711 \| calcifying epithelioma of malherbe \| 3

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

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

All Snps(Total Genotypes:7)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121913396	NA	1499	CTNNB1	umls:C0206711	CLINVAR	NA	0.481628651	NA	CTNNB1	3	41224607	A	C,G,T
rs121913400	NA	1499	CTNNB1	umls:C0206711	CLINVAR	NA	0.481628651	NA	CTNNB1	3	41224610	C	A,G,T
rs121913403	NA	1499	CTNNB1	umls:C0206711	CLINVAR	NA	0.481628651	NA	CTNNB1	3	41224622	C	A,G,T
rs121913413	NA	1499	CTNNB1	umls:C0206711	CLINVAR	NA	0.481628651	NA	CTNNB1	3	41224634	C	T
rs28931588	10192393	1499	CTNNB1	umls:C0206711	UNIPROT	A common human skin tumour is caused by activating mutations in beta-catenin.	0.481628651	1999	CTNNB1	3	41224606	G	A,C,T
rs28931588	NA	1499	CTNNB1	umls:C0206711	CLINVAR	NA	0.481628651	NA	CTNNB1	3	41224606	G	A,C,T
rs28931589	NA	1499	CTNNB1	umls:C0206711	CLINVAR	NA	0.481628651	NA	CTNNB1	3	41224613	G	A,T

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	416
Disease	pilomatrixoma
Case	(Waiting for update.)

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