MCID: SGN001
MIFTS: 34

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 71

Classifications:



External Ids:

Disease Ontology 12 DOID:4304
NCIt 49 C38110
UMLS 71 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 pancreas lymphoma. 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 TNFR1 Pathway and TCR Signaling (Qiagen). Affiliated tissues include skin, colon and lung.

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 132)
# Related Disease Score Top Affiliating Genes
1 basal cell carcinoma 10.1
2 pancreas lymphoma 10.0 PTPRC CEACAM5
3 vulvar apocrine adenocarcinoma 10.0 PTPRC CEACAM5
4 adult teratoma 10.0 HRAS CEACAM5
5 mediastinal cancer 10.0 PTPRC CEACAM5
6 vulvar disease 10.0 HRAS CEACAM5
7 mucinous cystadenocarcinoma 10.0 PTPRC CEACAM5
8 thyroid gland follicular carcinoma 9.9 HRAS CEACAM5
9 thymic carcinoma 9.9 PTPRC CEACAM5
10 actinic keratosis 9.9 HRAS CEACAM5
11 papillary adenoma 9.9 KRAS HRAS
12 trachea carcinoma in situ 9.9 KRAS HRAS
13 serous cystadenocarcinoma 9.9 KRAS HRAS
14 nasal cavity adenocarcinoma 9.9 KRAS HRAS
15 ampulla of vater neoplasm 9.9 KRAS HRAS
16 periampullary adenoma 9.9 KRAS HRAS
17 acneiform dermatitis 9.9 KRAS HRAS
18 myh-associated polyposis 9.8 KRAS HRAS
19 mucinous lung adenocarcinoma 9.8 KRAS HRAS
20 wolffian duct adenocarcinoma 9.8 KRAS HRAS
21 pancreatic intraductal papillary-mucinous neoplasm 9.8 KRAS HRAS
22 schimmelpenning-feuerstein-mims syndrome 9.8 KRAS HRAS
23 tumor of exocrine pancreas 9.8 KRAS HRAS
24 pancreatic acinar cell adenocarcinoma 9.8 KRAS HRAS
25 small intestine adenocarcinoma 9.8 KRAS HRAS
26 in situ pulmonary adenocarcinoma 9.8 KRAS HRAS
27 core binding factor acute myeloid leukemia 9.8 KRAS HRAS
28 paronychia 9.8 KRAS HRAS
29 duodenum adenocarcinoma 9.8 KRAS HRAS
30 endometrioid ovary carcinoma 9.8 KRAS HRAS
31 nasal cavity cancer 9.8 KRAS HRAS
32 female reproductive endometrioid cancer 9.8 KRAS HRAS
33 uterine body mixed cancer 9.8 KRAS HRAS
34 pulmonic stenosis 9.8 KRAS HRAS
35 ras-associated autoimmune leukoproliferative disorder 9.8 KRAS HRAS
36 respiratory system benign neoplasm 9.8 KRAS HRAS
37 rasopathy 9.8 KRAS HRAS
38 lung adenoma 9.8 KRAS HRAS
39 uterine corpus cancer 9.8 KRAS HRAS
40 neuroendocrine carcinoma 9.8 PTPRC CEACAM5
41 uterine benign neoplasm 9.8 KRAS HRAS
42 thyroid tumor 9.8 KRAS HRAS
43 urachal adenocarcinoma 9.8 KRAS CEACAM5
44 immature teratoma of ovary 9.8 KRAS CEACAM5
45 mature teratoma 9.8 KRAS CEACAM5
46 teratoma 9.8 KRAS CEACAM5
47 apocrine adenoma 9.8 KRAS CEACAM5
48 descending colon cancer 9.8 KRAS CEACAM5
49 noonan syndrome 3 9.8 KRAS HRAS
50 exanthem 9.8 KRAS HRAS

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, Colon, Lung, Thyroid, Ovary, Myeloid, Appendix

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 COSM149268805 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1261G>A p.G421R 16:72958885-72958885 3
2 COSM149259613 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.10847C>T p.S3616F 16:72787429-72787429 3
3 COSM149268792 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.5825G>A p.G1942E 16:72796857-72796857 3
4 COSM149268800 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1655C>T p.S552F 16:72958491-72958491 3
5 COSM149304906 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1991C>T p.S664F 16:72958155-72958155 3
6 COSM149331772 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.11050G>A p.D3684N 16:72787226-72787226 3
7 COSM149266372 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.2084C>T p.P695L 16:72958062-72958062 3
8 COSM101976974 XPO1 skin,NS,carcinoma,basal cell carcinoma c.782G>A p.R261Q 2:61496985-61496985 3
9 COSM87040659 TSC2 skin,NS,carcinoma,basal cell carcinoma c.869C>T p.P290L 16:2058767-2058767 3
10 COSM87027025 TSC2 skin,NS,carcinoma,basal cell carcinoma c.2060C>T p.S687F 16:2071897-2071897 3
11 COSM87028684 TSC2 skin,NS,carcinoma,basal cell carcinoma c.679T>A p.C227S 16:2056674-2056674 3
12 COSM90144180 TRAF7 skin,NS,carcinoma,basal cell carcinoma c.1802C>T p.T601I 16:2176104-2176104 3
13 COSM88644633 TP63 skin,NS,carcinoma,basal cell carcinoma c.1922C>T p.A641V 3:189894381-189894381 3
14 COSM87925664 TP53 skin,NS,carcinoma,basal cell carcinoma c.477C>T p.A159= 17:7675135-7675135 3
15 COSM87919454 TP53 skin,NS,carcinoma,basal cell carcinoma c.395A>T p.K132M 17:7675217-7675217 3
16 COSM88272290 TP53 skin,NS,carcinoma,basal cell carcinoma c.480G>C p.M160I 17:7675132-7675132 3
17 COSM87898709 TP53 skin,NS,carcinoma,basal cell carcinoma c.742C>T p.R248W 17:7674221-7674221 3
18 COSM87910628 TP53 skin,NS,carcinoma,basal cell carcinoma c.772G>A p.E258K 17:7674191-7674191 3
19 COSM88387703 TP53 skin,NS,carcinoma,basal cell carcinoma c.781A>T p.S261C 17:7674182-7674182 3
20 COSM87963219 TP53 skin,NS,carcinoma,basal cell carcinoma c.292C>T p.P98S 17:7676077-7676077 3
21 COSM87929396 TP53 skin,NS,carcinoma,basal cell carcinoma c.530C>T p.P177L 17:7675082-7675082 3
22 COSM87898723 TP53 skin,NS,carcinoma,basal cell carcinoma c.817C>T p.R273C 17:7673803-7673803 3
23 COSM88310572 TP53 skin,NS,carcinoma,basal cell carcinoma c.677G>C p.G226A 17:7674286-7674286 3
24 COSM87898714 TP53 skin,NS,carcinoma,basal cell carcinoma c.844C>T p.R282W 17:7673776-7673776 3
25 COSM87898991 TP53 skin,NS,carcinoma,basal cell carcinoma c.535C>T p.H179Y 17:7675077-7675077 3
26 COSM88408340 TP53 skin,NS,carcinoma,basal cell carcinoma c.899C>G p.P300R 17:7673721-7673721 3
27 COSM87906968 TP53 skin,NS,carcinoma,basal cell carcinoma c.833C>T p.P278L 17:7673787-7673787 3
28 COSM87910495 TP53 skin,NS,carcinoma,basal cell carcinoma c.832C>T p.P278S 17:7673788-7673788 3
29 COSM87899497 TP53 skin,NS,carcinoma,basal cell carcinoma c.586C>T p.R196* 17:7674945-7674945 3
30 COSM87906130 TP53 skin,NS,carcinoma,basal cell carcinoma c.854A>T p.E285V 17:7673766-7673766 3
31 COSM87919200 TP53 skin,NS,carcinoma,basal cell carcinoma c.511G>C p.E171Q 17:7675101-7675101 3
32 COSM87944274 TP53 skin,NS,carcinoma,basal cell carcinoma c.419C>T p.T140I 17:7675193-7675193 3
33 COSM87921224 TP53 skin,NS,carcinoma,basal cell carcinoma c.835G>A p.G279R 17:7673785-7673785 3
34 COSM87898567 TP53 skin,NS,carcinoma,basal cell carcinoma c.748C>T p.P250S 17:7674215-7674215 3
35 COSM87900980 TP53 skin,NS,carcinoma,basal cell carcinoma c.839G>A p.R280K 17:7673781-7673781 3
36 COSM87947692 TP53 skin,NS,carcinoma,basal cell carcinoma c.770T>C p.L257P 17:7674193-7674193 3
37 COSM87957813 TP53 skin,NS,carcinoma,basal cell carcinoma c.737T>G p.M246R 17:7674226-7674226 3
38 COSM87904406 TP53 skin,NS,carcinoma,basal cell carcinoma c.796G>A p.G266R 17:7673824-7673824 3
39 COSM87917387 TP53 skin,NS,carcinoma,basal cell carcinoma c.746G>C p.R249T 17:7674217-7674217 3
40 COSM87932688 TP53 skin,NS,carcinoma,basal cell carcinoma c.507G>A p.M169I 17:7675105-7675105 3
41 COSM87903307 TP53 skin,NS,carcinoma,basal cell carcinoma c.841G>A p.D281N 17:7673779-7673779 3
42 COSM87905687 TP53 skin,NS,carcinoma,basal cell carcinoma c.955A>G p.K319E 17:7673573-7673573 3
43 COSM87899661 TP53 skin,NS,carcinoma,basal cell carcinoma c.797G>A p.G266E 17:7673823-7673823 3
44 COSM87908365 TP53 skin,NS,carcinoma,basal cell carcinoma c.454C>T p.P152S 17:7675158-7675158 3
45 COSM87961406 TP53 skin,NS,carcinoma,basal cell carcinoma c.532C>A p.H178N 17:7675080-7675080 3
46 COSM87918616 TP53 skin,NS,carcinoma,basal cell carcinoma c.993+1G>A p.? 17:7673534-7673534 3
47 COSM87897745 TP53 skin,NS,carcinoma,basal cell carcinoma c.524G>A p.R175H 17:7675088-7675088 3
48 COSM87911563 TP53 skin,NS,carcinoma,basal cell carcinoma c.388C>T p.L130F 17:7675224-7675224 3
49 COSM87922049 TP53 skin,NS,carcinoma,basal cell carcinoma c.713G>T p.C238F 17:7674250-7674250 3
50 COSM87898431 TP53 skin,NS,carcinoma,basal cell carcinoma c.451C>T p.P151S 17:7675161-7675161 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
12.63 PTPRC KRAS HRAS
2
Show member pathways
12.58 PTPRC KRAS HRAS
3
Show member pathways
12.25 PTPRC KRAS HRAS
4
Show member pathways
12.23 PTPRC KRAS HRAS
5
Show member pathways
11.89 PTPRC KRAS HRAS
6
Show member pathways
11.76 PTPRC KRAS HRAS
7 11.74 PTPRC CEACAM5
8 11.74 KRAS HRAS
9 11.73 KRAS HRAS
10 11.72 KRAS HRAS
11 11.71 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
Show member pathways
11.42 KRAS HRAS
22 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 10.74 PTPRC KRAS HRAS
38 10.67 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 positive regulation of MAPK cascade GO:0043410 9.37 PTPRC HRAS
2 stimulatory C-type lectin receptor signaling pathway GO:0002223 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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