MCID: SGN001
MIFTS: 32

Signet Ring Basal Cell Carcinoma

Categories: Cancer diseases, Skin diseases

Aliases & Classifications for Signet Ring Basal Cell Carcinoma

MalaCards integrated aliases for Signet Ring Basal Cell Carcinoma:

Name: Signet Ring Basal Cell Carcinoma 12 15
Skin Signet Ring Cell Basal Cell Carcinoma 12 70

Classifications:



External Ids:

Disease Ontology 12 DOID:4304
NCIt 50 C38110
UMLS 70 C1519320

Summaries for Signet Ring Basal Cell Carcinoma

MalaCards based summary : Signet Ring Basal Cell Carcinoma, also known as skin signet ring cell basal cell carcinoma, is related to basal cell carcinoma and vulvar apocrine adenocarcinoma. An important gene associated with Signet Ring Basal Cell Carcinoma is PTPRC (Protein Tyrosine Phosphatase Receptor Type C), and among its related pathways/superpathways are TCR Signaling (Qiagen) and T cell receptor signaling pathway. Affiliated tissues include skin.

Related Diseases for Signet Ring Basal Cell Carcinoma

Diseases related to Signet Ring Basal Cell Carcinoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 146)
# Related Disease Score Top Affiliating Genes
1 basal cell carcinoma 10.2
2 vulvar apocrine adenocarcinoma 10.0 PTPRC CEACAM5
3 mediastinal cancer 10.0 PTPRC CEACAM5
4 ovarian benign neoplasm 10.0 HRAS CEACAM5
5 duodenum adenoma 10.0 PTPRC CEACAM5
6 gallbladder lymphoma 10.0 PTPRC CEACAM5
7 vulvar disease 10.0 HRAS CEACAM5
8 mucinous cystadenocarcinoma 10.0 PTPRC CEACAM5
9 vulva cancer 10.0 HRAS CEACAM5
10 gastrointestinal carcinoma 10.0 PTPRC CEACAM5
11 actinic keratosis 9.9 HRAS CEACAM5
12 hepatic flexure cancer 9.9 KRAS HRAS
13 serous cystadenocarcinoma 9.9 KRAS HRAS
14 trachea carcinoma in situ 9.9 KRAS HRAS
15 pancreatic signet ring cell adenocarcinoma 9.9 KRAS HRAS
16 ampulla of vater benign neoplasm 9.9 KRAS HRAS
17 periampullary adenoma 9.9 KRAS HRAS
18 bone giant cell sarcoma 9.9 KRAS HRAS
19 acneiform dermatitis 9.9 KRAS HRAS
20 gallbladder benign neoplasm 9.9 KRAS HRAS
21 adenosquamous lung carcinoma 9.9 KRAS HRAS
22 appendix adenocarcinoma 9.9 KRAS HRAS
23 mucinous lung adenocarcinoma 9.9 KRAS HRAS
24 wolffian duct adenocarcinoma 9.9 KRAS HRAS
25 noonan syndrome-like disorder with loose anagen hair 1 9.9 KRAS HRAS
26 noonan syndrome-like disorder with loose anagen hair 9.9 KRAS HRAS
27 myh-associated polyposis 9.9 KRAS HRAS
28 pancreatic acinar cell adenocarcinoma 9.9 KRAS HRAS
29 paronychia 9.9 KRAS HRAS
30 lung carcinoma in situ 9.9 KRAS HRAS
31 small intestine adenocarcinoma 9.9 KRAS HRAS
32 ethmoid sinus adenocarcinoma 9.9 KRAS HRAS
33 core binding factor acute myeloid leukemia 9.9 KRAS HRAS
34 pulmonary adenocarcinoma in situ 9.9 KRAS HRAS
35 oculoectodermal syndrome 9.9 KRAS HRAS
36 large intestine adenocarcinoma 9.9 KRAS HRAS
37 nasal cavity adenocarcinoma 9.9 KRAS HRAS
38 mature teratoma 9.9 KRAS CEACAM5
39 teratoma 9.9 KRAS CEACAM5
40 lung non-squamous non-small cell carcinoma 9.9 KRAS HRAS
41 small cell carcinoma 9.9 PTPRC KRAS
42 myasthenic syndrome, congenital, 14 9.9 KRAS HRAS
43 female reproductive endometrioid cancer 9.9 KRAS HRAS
44 skin papilloma 9.9 KRAS HRAS
45 uterine body mixed cancer 9.9 KRAS HRAS
46 respiratory system benign neoplasm 9.9 KRAS HRAS
47 ras-associated autoimmune leukoproliferative disorder 9.9 KRAS HRAS
48 pancreatic cystadenocarcinoma 9.9 KRAS CEACAM5
49 lung adenoma 9.9 KRAS HRAS
50 urachal adenocarcinoma 9.9 KRAS CEACAM5

Graphical network of the top 20 diseases related to Signet Ring Basal Cell Carcinoma:



Diseases related to Signet Ring Basal Cell Carcinoma

Symptoms & Phenotypes for Signet Ring Basal Cell Carcinoma

Drugs & Therapeutics for Signet Ring Basal Cell Carcinoma

Search Clinical Trials , NIH Clinical Center for Signet Ring Basal Cell Carcinoma

Genetic Tests for Signet Ring Basal Cell Carcinoma

Anatomical Context for Signet Ring Basal Cell Carcinoma

MalaCards organs/tissues related to Signet Ring Basal Cell Carcinoma:

40
Skin

Publications for Signet Ring Basal Cell Carcinoma

Articles related to Signet Ring Basal Cell Carcinoma:

# Title Authors PMID Year
1
Signet ring basal cell carcinoma. A case study emphasizing the differential diagnosis of neoplasms with signet ring cell formation. 61
11795835 2001

Variations for Signet Ring Basal Cell Carcinoma

Cosmic variations for Signet Ring 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 Signet Ring Basal Cell Carcinoma

Search GEO for disease gene expression data for Signet Ring Basal Cell Carcinoma.

Pathways for Signet Ring Basal Cell Carcinoma

Pathways related to Signet Ring Basal Cell Carcinoma according to GeneCards Suite gene sharing:

(show all 39)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.58 PTPRC KRAS HRAS
2
Show member pathways
12.25 PTPRC KRAS HRAS
3
Show member pathways
12.23 PTPRC KRAS HRAS
4
Show member pathways
11.97 PTPRC KRAS HRAS
5
Show member pathways
11.83 PTPRC KRAS HRAS
6 11.74 PTPRC CEACAM5
7 11.74 KRAS HRAS
8 11.73 KRAS HRAS
9 11.72 KRAS HRAS
10 11.71 KRAS HRAS
11
Show member pathways
11.7 KRAS HRAS
12
Show member pathways
11.69 KRAS HRAS
13 11.65 KRAS HRAS
14
Show member pathways
11.64 PTPRC HRAS
15
Show member pathways
11.61 KRAS HRAS
16
Show member pathways
11.6 KRAS HRAS
17 11.58 KRAS HRAS
18
Show member pathways
11.55 KRAS HRAS
19 11.49 KRAS HRAS
20 11.46 KRAS HRAS
21 11.44 KRAS HRAS
22
Show member pathways
11.42 KRAS HRAS
23 11.4 KRAS HRAS
24
Show member pathways
11.38 KRAS HRAS CEACAM5
25 11.37 KRAS HRAS
26 11.34 KRAS HRAS
27 11.26 KRAS HRAS
28 11.2 KRAS HRAS
29 11.14 KRAS HRAS
30 11.07 KRAS HRAS
31 10.99 KRAS HRAS
32 10.97 KRAS HRAS
33
Show member pathways
10.94 KRAS HRAS
34
Show member pathways
10.87 KRAS HRAS
35 10.79 KRAS HRAS
36 10.75 KRAS HRAS
37 10.66 PTPRC KRAS HRAS
38 10.62 KRAS HRAS
39 10.27 KRAS HRAS

GO Terms for Signet Ring Basal Cell Carcinoma

Biological processes related to Signet Ring Basal Cell Carcinoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.37 KRAS HRAS
2 liver development GO:0001889 9.32 KRAS HRAS
3 Ras protein signal transduction GO:0007265 9.26 KRAS HRAS
4 positive regulation of MAP kinase activity GO:0043406 9.16 KRAS HRAS
5 regulation of long-term neuronal synaptic plasticity GO:0048169 8.96 KRAS HRAS
6 response to isolation stress GO:0035900 8.62 KRAS HRAS

Molecular functions related to Signet Ring Basal Cell Carcinoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 GDP binding GO:0019003 8.62 KRAS HRAS

Sources for Signet Ring 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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