MCID: ANL013
MIFTS: 18

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 70
Basal Cell Carcinoma of Perianal Skin 12
Basal Cell Carcinoma of Anal Margin 12

Classifications:



External Ids:

Disease Ontology 12 DOID:4283
NCIt 50 C7473
ICD10 32 C44.510
UMLS 70 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 anal margin and skin.

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

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

19
Anal Margin

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

40
Skin

Publications for Anal Margin Basal Cell Carcinoma

Articles related to Anal Margin Basal Cell Carcinoma:

# Title Authors PMID Year
1
[Basal cell carcinoma of the perianal region: a case report and literature review]. 61
23375494 2013

Variations for Anal Margin Basal Cell Carcinoma

Cosmic variations for Anal Margin Basal Cell Carcinoma:

9 (show top 50) (show all 3424)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM84510986 ZNF276 skin,NS,carcinoma,basal cell carcinoma c.*940C>T p.? 16:89739186-89739186 3
2 COSM149268805 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1261G>A p.G421R 16:72958885-72958885 3
3 COSM87274302 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1655C>T p.S552F 16:72958491-72958491 3
4 COSM87270496 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.10847C>T p.S3616F 16:72787429-72787429 3
5 COSM149259613 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.10847C>T p.S3616F 16:72787429-72787429 3
6 COSM149268792 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.5825G>A p.G1942E 16:72796857-72796857 3
7 COSM87274307 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1261G>A p.G421R 16:72958885-72958885 3
8 COSM149268800 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1655C>T p.S552F 16:72958491-72958491 3
9 COSM87273325 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.2084C>T p.P695L 16:72958062-72958062 3
10 COSM149304906 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1991C>T p.S664F 16:72958155-72958155 3
11 COSM87296537 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.11050G>A p.D3684N 16:72787226-72787226 3
12 COSM102023150 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.-23-7526C>T p.? 16:72958491-72958491 3
13 COSM102023155 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.-23-7920G>A p.? 16:72958885-72958885 3
14 COSM102019420 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.8105C>T p.S2702F 16:72787429-72787429 3
15 COSM149331772 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.11050G>A p.D3684N 16:72787226-72787226 3
16 COSM102023144 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.3083G>A p.G1028E 16:72796857-72796857 3
17 COSM102047764 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.8308G>A p.D2770N 16:72787226-72787226 3
18 COSM87286441 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1991C>T p.S664F 16:72958155-72958155 3
19 COSM102036925 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.-23-7190C>T p.? 16:72958155-72958155 3
20 COSM149266372 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.2084C>T p.P695L 16:72958062-72958062 3
21 COSM102022243 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.-23-7097C>T p.? 16:72958062-72958062 3
22 COSM87274293 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.5825G>A p.G1942E 16:72796857-72796857 3
23 COSM104882801 XPO1 skin,NS,carcinoma,basal cell carcinoma c.782G>A p.R261Q 2:61496985-61496985 3
24 COSM104236272 XPO1 skin,NS,carcinoma,basal cell carcinoma c.782G>A p.R261Q 2:61496985-61496985 3
25 COSM101976974 XPO1 skin,NS,carcinoma,basal cell carcinoma c.782G>A p.R261Q 2:61496985-61496985 3
26 COSM87040659 TSC2 skin,NS,carcinoma,basal cell carcinoma c.869C>T p.P290L 16:2058767-2058767 3
27 COSM101179498 TSC2 skin,NS,carcinoma,basal cell carcinoma c.1913C>T p.S638F 16:2071897-2071897 3
28 COSM150324396 TSC2 skin,NS,carcinoma,basal cell carcinoma c.869C>T p.P290L 16:2058767-2058767 3
29 COSM101191558 TSC2 skin,NS,carcinoma,basal cell carcinoma c.722C>T p.P241L 16:2058767-2058767 3
30 COSM147706701 TSC2 skin,NS,carcinoma,basal cell carcinoma c.869C>T p.P290L 16:2058767-2058767 3
31 COSM150353664 TSC2 skin,NS,carcinoma,basal cell carcinoma c.2060C>T p.S687F 16:2071897-2071897 3
32 COSM151748023 TSC2 skin,NS,carcinoma,basal cell carcinoma c.679T>A p.C227S 16:2056674-2056674 3
33 COSM150576157 TSC2 skin,NS,carcinoma,basal cell carcinoma c.679T>A p.C227S 16:2056674-2056674 3
34 COSM149802478 TSC2 skin,NS,carcinoma,basal cell carcinoma c.679T>A p.C227S 16:2056674-2056674 3
35 COSM148980439 TSC2 skin,NS,carcinoma,basal cell carcinoma c.2060C>T p.S687F 16:2071897-2071897 3
36 COSM90415129 TSC2 skin,NS,carcinoma,basal cell carcinoma c.869C>T p.P290L 16:2058767-2058767 3
37 COSM149800636 TSC2 skin,NS,carcinoma,basal cell carcinoma c.2060C>T p.S687F 16:2071897-2071897 3
38 COSM148991757 TSC2 skin,NS,carcinoma,basal cell carcinoma c.869C>T p.P290L 16:2058767-2058767 3
39 COSM151753165 TSC2 skin,NS,carcinoma,basal cell carcinoma c.869C>T p.P290L 16:2058767-2058767 3
40 COSM151513825 TSC2 skin,NS,carcinoma,basal cell carcinoma c.679T>A p.C227S 16:2056674-2056674 3
41 COSM151371066 TSC2 skin,NS,carcinoma,basal cell carcinoma c.679T>A p.C227S 16:2056674-2056674 3
42 COSM148982237 TSC2 skin,NS,carcinoma,basal cell carcinoma c.679T>A p.C227S 16:2056674-2056674 3
43 COSM136628294 TSC2 skin,NS,carcinoma,basal cell carcinoma c.902C>T p.P301L 16:2058767-2058767 3
44 COSM110103971 TSC2 skin,NS,carcinoma,basal cell carcinoma c.568T>A p.C190S 16:2056674-2056674 3
45 COSM150583851 TSC2 skin,NS,carcinoma,basal cell carcinoma c.869C>T p.P290L 16:2058767-2058767 3
46 COSM102616914 TSC2 skin,NS,carcinoma,basal cell carcinoma c.2060C>T p.S687F 16:2071897-2071897 3
47 COSM136618116 TSC2 skin,NS,carcinoma,basal cell carcinoma c.712T>A p.C238S 16:2056674-2056674 3
48 COSM110102044 TSC2 skin,NS,carcinoma,basal cell carcinoma c.1949C>T p.S650F 16:2071897-2071897 3
49 COSM150574866 TSC2 skin,NS,carcinoma,basal cell carcinoma c.2060C>T p.S687F 16:2071897-2071897 3
50 COSM102629996 TSC2 skin,NS,carcinoma,basal cell carcinoma c.869C>T p.P290L 16:2058767-2058767 3

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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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