MCID: ANL013
MIFTS: 9

Anal Margin Basal Cell Carcinoma

Categories: Cancer diseases, Skin diseases

Aliases & Classifications for Anal Margin Basal Cell Carcinoma

MalaCards integrated aliases for Anal Margin Basal Cell Carcinoma:

Name: Anal Margin Basal Cell Carcinoma 12 73
Basal Cell Carcinoma of Perianal Skin 12
Basal Cell Carcinoma of Anal Margin 12

Classifications:



External Ids:

Disease Ontology 12 DOID:4283
ICD10 33 C44.510
NCIt 50 C7473
UMLS 73 C1332269

Summaries for Anal Margin Basal Cell Carcinoma

Disease Ontology : 12 A basal cell carcinoma that is located in the anal margin.

MalaCards based summary : Anal Margin Basal Cell Carcinoma, is also known as basal cell carcinoma of perianal skin. Affiliated tissues include skin and the anal margin.

Related Diseases for Anal Margin Basal Cell Carcinoma

Symptoms & Phenotypes for Anal Margin Basal Cell Carcinoma

Drugs & Therapeutics for Anal Margin Basal Cell Carcinoma

Search Clinical Trials , NIH Clinical Center for Anal Margin Basal Cell Carcinoma

Genetic Tests for Anal Margin Basal Cell Carcinoma

Anatomical Context for Anal Margin Basal Cell Carcinoma

MalaCards organs/tissues related to Anal Margin Basal Cell Carcinoma:

41
Skin

The Foundational Model of Anatomy Ontology organs/tissues related to Anal Margin Basal Cell Carcinoma:

19
The Anal Margin

Publications for Anal Margin Basal Cell Carcinoma

Variations for Anal Margin Basal Cell Carcinoma

Cosmic variations for Anal Margin Basal Cell Carcinoma:

9 (show top 50) (show all 687)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM6926860 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.5825G>A p.G1942E 16:72796857-72796857 11
2 COSM6926861 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1655C>T p.S552F 16:72958491-72958491 11
3 COSM6969201 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.11050G>A p.D3684N 16:72787226-72787226 11
4 COSM6953811 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1991C>T p.S664F 16:72958155-72958155 11
5 COSM6926862 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1261G>A p.G421R 16:72958885-72958885 11
6 COSM6936924 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.10847C>T p.S3616F 16:72787429-72787429 11
7 COSM3691166 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.2084C>T p.P695L 16:72958062-72958062 11
8 COSM212945 XPO1 skin,NS,carcinoma,basal cell carcinoma c.782G>A p.R261Q 2:61496985-61496985 11
9 COSM6953809 TSC2 skin,NS,carcinoma,basal cell carcinoma c.869C>T p.P290L 16:2058767-2058767 11
10 COSM6936922 TSC2 skin,NS,carcinoma,basal cell carcinoma c.2060C>T p.S687F 16:2071897-2071897 11
11 COSM6926855 TSC2 skin,NS,carcinoma,basal cell carcinoma c.679T>A p.C227S 16:2056674-2056674 11
12 COSM6912933 TRAF7 skin,NS,carcinoma,basal cell carcinoma c.1802C>T p.T601I 16:2176104-2176104 11
13 COSM6949578 TP63 skin,NS,carcinoma,basal cell carcinoma c.1922C>T p.A641V 3:189894381-189894381 11
14 COSM44071 TP53 skin,NS,carcinoma,basal cell carcinoma c.955A>G p.K319E 17:7673573-7673573 11
15 COSM44097 TP53 skin,NS,carcinoma,basal cell carcinoma c.530C>T p.P177L 17:7675082-7675082 11
16 COSM44096 TP53 skin,NS,carcinoma,basal cell carcinoma c.748C>G p.P250A 17:7674215-7674215 11
17 COSM45074 TP53 skin,NS,carcinoma,basal cell carcinoma c.829T>G p.C277G 17:7673791-7673791 11
18 COSM45739 TP53 skin,NS,carcinoma,basal cell carcinoma c.677G>C p.G226A 17:7674286-7674286 11
19 COSM10728 TP53 skin,NS,carcinoma,basal cell carcinoma c.839G>A p.R280K 17:7673781-7673781 11
20 COSM10656 TP53 skin,NS,carcinoma,basal cell carcinoma c.742C>T p.R248W 17:7674221-7674221 11
21 COSM44606 TP53 skin,NS,carcinoma,basal cell carcinoma c.665C>T p.P222L 17:7674866-7674866 11
22 COSM44295 TP53 skin,NS,carcinoma,basal cell carcinoma c.993+1G>A p.? 17:7673534-7673534 11
23 COSM43778 TP53 skin,NS,carcinoma,basal cell carcinoma c.713G>T p.C238F 17:7674250-7674250 11
24 COSM10939 TP53 skin,NS,carcinoma,basal cell carcinoma c.832C>T p.P278S 17:7673788-7673788 11
25 COSM10650 TP53 skin,NS,carcinoma,basal cell carcinoma c.529C>T p.P177S 17:7675083-7675083 11
26 COSM43665 TP53 skin,NS,carcinoma,basal cell carcinoma c.746G>C p.R249T 17:7674217-7674217 11
27 COSM10662 TP53 skin,NS,carcinoma,basal cell carcinoma c.743G>A p.R248Q 17:7674220-7674220 11
28 COSM45774 TP53 skin,NS,carcinoma,basal cell carcinoma c.899C>G p.P300R 17:7673721-7673721 11
29 COSM10749 TP53 skin,NS,carcinoma,basal cell carcinoma c.830G>T p.C277F 17:7673790-7673790 11
30 COSM11449 TP53 skin,NS,carcinoma,basal cell carcinoma c.388C>T p.L130F 17:7675224-7675224 11
31 COSM10660 TP53 skin,NS,carcinoma,basal cell carcinoma c.818G>A p.R273H 17:7673802-7673802 11
32 COSM10771 TP53 skin,NS,carcinoma,basal cell carcinoma c.749C>T p.P250L 17:7674214-7674214 11
33 COSM44068 TP53 skin,NS,carcinoma,basal cell carcinoma c.532C>A p.H178N 17:7675080-7675080 11
34 COSM11152 TP53 skin,NS,carcinoma,basal cell carcinoma c.700T>C p.Y234H 17:7674263-7674263 11
35 COSM43582 TP53 skin,NS,carcinoma,basal cell carcinoma c.454C>T p.P152S 17:7675158-7675158 11
36 COSM10768 TP53 skin,NS,carcinoma,basal cell carcinoma c.535C>T p.H179Y 17:7675077-7675077 11
37 COSM45834 TP53 skin,NS,carcinoma,basal cell carcinoma c.409C>A p.L137M 17:7675203-7675203 11
38 COSM10905 TP53 skin,NS,carcinoma,basal cell carcinoma c.451C>T p.P151S 17:7675161-7675161 11
39 COSM10654 TP53 skin,NS,carcinoma,basal cell carcinoma c.637C>T p.R213* 17:7674894-7674894 11
40 COSM6932 TP53 skin,NS,carcinoma,basal cell carcinoma c.733G>A p.G245S 17:7674230-7674230 11
41 COSM10648 TP53 skin,NS,carcinoma,basal cell carcinoma c.524G>A p.R175H 17:7675088-7675088 11
42 COSM45424 TP53 skin,NS,carcinoma,basal cell carcinoma c.781A>T p.S261C 17:7674182-7674182 11
43 COSM10812 TP53 skin,NS,carcinoma,basal cell carcinoma c.722C>T p.S241F 17:7674241-7674241 11
44 COSM10659 TP53 skin,NS,carcinoma,basal cell carcinoma c.817C>T p.R273C 17:7673803-7673803 11
45 COSM10794 TP53 skin,NS,carcinoma,basal cell carcinoma c.796G>A p.G266R 17:7673824-7673824 11
46 COSM44552 TP53 skin,NS,carcinoma,basal cell carcinoma c.509C>T p.T170M 17:7675103-7675103 11
47 COSM10704 TP53 skin,NS,carcinoma,basal cell carcinoma c.844C>T p.R282W 17:7673776-7673776 11
48 COSM10726 TP53 skin,NS,carcinoma,basal cell carcinoma c.856G>A p.E286K 17:7673764-7673764 11
49 COSM6549 TP53 skin,NS,carcinoma,basal cell carcinoma c.743G>T p.R248L 17:7674220-7674220 11
50 COSM45304 TP53 skin,NS,carcinoma,basal cell carcinoma c.375+1G>A p.? 17:7675993-7675993 11

Expression for Anal Margin Basal Cell Carcinoma

Search GEO for disease gene expression data for Anal Margin Basal Cell Carcinoma.

Pathways for Anal Margin Basal Cell Carcinoma

GO Terms for Anal Margin Basal Cell Carcinoma

Sources for Anal Margin Basal Cell Carcinoma

3 CDC
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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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45 MESH via Orphanet
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58 OMIM via Orphanet
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64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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