BCC
MCID: BSL024
MIFTS: 42

Basal Cell Carcinoma 1 (BCC) malady

Categories: Genetic diseases, Cancer diseases, Respiratory diseases, Skin diseases, Rare diseases

Aliases & Classifications for Basal Cell Carcinoma 1

Aliases & Descriptions for Basal Cell Carcinoma 1:

Name: Basal Cell Carcinoma 1 54
Basal Cell Carcinoma, Somatic 54 13
Basal Cell Carcinoma 66 69
Basal Cell Carcinoma, Susceptibility to, 1 13
Experimental Organism Basal Cell Carcinoma 69
Non-Syndromic Basal Cell Carcinoma 66
Basal Cell Carcinoma, Multiple 69
Multiple Basal Cell Carcinoma 66
Bcc 66

Classifications:



External Ids:

OMIM 54 605462
MeSH 42 D002280

Summaries for Basal Cell Carcinoma 1

OMIM : 54 Cutaneous basal cell carcinoma (BCC) is the most common cancer among people of European ancestry (Stacey et al., 2009).... (605462) more...

MalaCards based summary : Basal Cell Carcinoma 1, also known as basal cell carcinoma, somatic, is related to basal cell nevus syndrome and basal cell carcinoma, and has symptoms including basal cell carcinoma An important gene associated with Basal Cell Carcinoma 1 is PTCH1 (Patched 1), and among its related pathways/superpathways are G-Beta Gamma Signaling and Pathways in cancer. The drugs Aminolevulinic acid and Cyclosporine have been mentioned in the context of this disorder. Affiliated tissues include skin, and related phenotypes are digestive/alimentary and muscle

UniProtKB/Swiss-Prot : 66 Basal cell carcinoma: A common malignant skin neoplasm that typically appears on hair- bearing skin, most commonly on sun-exposed areas. BCC is slow growing and rarely metastasizes, but has potentialities for local invasion and destruction. It usually develops as a flat, firm, pale area that is small, raised, pink or red, translucent, shiny, and waxy, and the area may bleed following minor injury. Tumor size can vary from a few millimeters to several centimeters in diameter.

Related Diseases for Basal Cell Carcinoma 1

Diseases in the Small Cell Carcinoma family:

Basal Cell Carcinoma 1 Basal Cell Carcinoma 2
Basal Cell Carcinoma 3 Basal Cell Carcinoma 6
Basal Cell Carcinoma 5 Basal Cell Carcinoma 4
Basal Cell Carcinoma 7 Cell Type Cancer
Cell Type Benign Neoplasm Basal Cell Carcinoma
Large Cell Carcinoma Basal Cell Carcinoma, Multiple

Diseases related to Basal Cell Carcinoma 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 217)
id Related Disease Score Top Affiliating Genes
1 basal cell nevus syndrome 32.7 PTCH1 PTCH2 SMO
2 basal cell carcinoma 12.5
3 nodular basal cell carcinoma 12.2
4 superficial basal cell carcinoma 12.2
5 basal cell carcinoma 7 12.2
6 infundibulocystic basal cell carcinoma 12.2
7 morpheaform basal cell carcinoma 12.2
8 pigmented basal cell carcinoma 12.1
9 adenoid basal cell carcinoma 12.1
10 clear cell basal cell carcinoma 12.1
11 sarcomatoid basal cell carcinoma 12.1
12 infiltrative basal cell carcinoma 12.1
13 cystic basal cell carcinoma 12.1
14 metatypical basal cell carcinoma 12.1
15 micronodular basal cell carcinoma 12.1
16 fibroepithelial basal cell carcinoma 12.1
17 basal cell carcinoma, multiple 12.0
18 anal margin basal cell carcinoma 12.0
19 external ear basal cell carcinoma 12.0
20 vulva basal cell carcinoma 12.0
21 follicular basal cell carcinoma 12.0
22 scrotum basal cell carcinoma 12.0
23 signet ring basal cell carcinoma 12.0
24 basal cell carcinoma 6 11.9
25 sebaceous basal cell carcinoma 11.9
26 basal cell carcinoma 5 11.9
27 basal cell carcinoma 4 11.9
28 basal cell carcinoma 2 11.9
29 penis basal cell carcinoma 11.9
30 basal cell carcinoma 3 11.9
31 bazex syndrome 11.8
32 rombo syndrome 11.8
33 brooke-spiegler syndrome 11.2
34 multiple familial trichoepithelioma 11.2
35 adamantinoid basal cell epithelioma 11.0
36 trichoepithelioma, multiple familial, 1 11.0
37 xeroderma pigmentosum, variant type 10.8
38 prostate cancer, hereditary, 11 10.8
39 inflammatory linear verrucous epidermal nevus 10.8
40 prostate cancer, hereditary, 13 10.8
41 clear cell acanthoma 10.8
42 prostate cancer 1 10.8
43 prostate cancer 10.8
44 cerebrooculofacioskeletal syndrome 3 10.8
45 prostate cancer, hereditary, 12 10.8
46 prostate cancer, hereditary, 2 10.8
47 squamous cell carcinoma 10.5
48 keratosis 10.4
49 melanoma 10.4
50 actinic keratosis 10.3

Graphical network of the top 20 diseases related to Basal Cell Carcinoma 1:



Diseases related to Basal Cell Carcinoma 1

Symptoms & Phenotypes for Basal Cell Carcinoma 1

Clinical features from OMIM:

605462

Human phenotypes related to Basal Cell Carcinoma 1:

32
id Description HPO Frequency HPO Source Accession
1 basal cell carcinoma 32 HP:0002671

MGI Mouse Phenotypes related to Basal Cell Carcinoma 1:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.26 PTCH1 PTCH2 RASA1 SMO
2 muscle MP:0005369 8.92 PTCH1 PTCH2 RASA1 SMO

Drugs & Therapeutics for Basal Cell Carcinoma 1

Drugs for Basal Cell Carcinoma 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 206)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aminolevulinic acid Approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 106-60-5 137
2
Cyclosporine Approved, Investigational, Vet_approved Phase 4 79217-60-0, 59865-13-3 5284373 6435893
3
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492
4
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 1,Early Phase 1 22916-47-8 4189
5
Everolimus Approved Phase 4,Phase 1 159351-69-6 6442177
6
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
7
Fluorouracil Approved Phase 4,Phase 2,Phase 1 51-21-8 3385
8
Sirolimus Approved, Investigational Phase 4,Phase 1 53123-88-9 5284616 6436030 46835353
9 Dermatologic Agents Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
10 Anti-Bacterial Agents Phase 4,Phase 1,Phase 2
11 Photosensitizing Agents Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
12 Anti-Infective Agents Phase 4,Phase 2,Phase 1,Early Phase 1
13 Antibiotics, Antitubercular Phase 4,Phase 1,Phase 2
14 Methyl 5-aminolevulinate Phase 4,Phase 2,Phase 3,Phase 1
15 triamcinolone acetonide Phase 4
16 Tin Fluorides Phase 4
17 Triamcinolone diacetate Phase 4
18 Triamcinolone hexacetonide Phase 4
19 Immunosuppressive Agents Phase 4,Phase 2,Phase 1
20 Antifungal Agents Phase 4,Phase 2,Phase 1,Early Phase 1
21 Antimetabolites Phase 4,Phase 3,Phase 1,Phase 2
22 Antimetabolites, Antineoplastic Phase 4,Phase 3,Phase 1,Phase 2
23 Antirheumatic Agents Phase 4,Phase 2
24 Calcineurin Inhibitors Phase 4
25
Cisplatin Approved Phase 3,Phase 2,Phase 1 15663-27-1 84093 441203 2767
26
Carboplatin Approved Phase 3,Phase 1,Phase 2 41575-94-4 10339178 498142 38904
27
Imiquimod Approved, Investigational Phase 3,Phase 2,Phase 1 99011-02-6 57469
28
Capecitabine Approved, Investigational Phase 3,Phase 1,Phase 2 154361-50-9 60953
29
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
30
Paclitaxel Approved, Vet_approved Phase 3 33069-62-4 36314
31
Succinylcholine Approved Phase 3,Phase 1 306-40-1 5314
32
Histamine Approved, Investigational Phase 3 75614-87-8, 51-45-6 774
33
Doxepin Approved Phase 3 1668-19-5 667477 667468
34
Darbepoetin alfa Approved, Investigational Phase 3 11096-26-7, 209810-58-2
35
Tretinoin Approved, Investigational, Nutraceutical Phase 3 302-79-4 5538
36
Docetaxel Approved May 1996, Investigational Phase 3,Phase 1,Phase 2 114977-28-5 148124 9877265
37 Anesthetics Phase 3,Early Phase 1
38 Liver Extracts Phase 3,Phase 2,Phase 1
39 taxane Phase 3,Phase 1
40 pancreatic polypeptide Phase 3
41 interferons Phase 3,Phase 2,Phase 1
42 Analgesics Phase 3,Phase 2
43 Adjuvants, Anesthesia Phase 3
44 Adjuvants, Immunologic Phase 3,Phase 2,Phase 1
45 Narcotics Phase 3
46 Neurotransmitter Agents Phase 3
47 Analgesics, Opioid Phase 3
48 Anesthetics, General Phase 3
49 Anesthetics, Intravenous Phase 3
50 Peripheral Nervous System Agents Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 173)
id Name Status NCT ID Phase
1 Superficial Basal Cell Carcinoma Treatment With Topical Photodynamic Therapy With Fractionated 5-aminolevulinic Acid 20% Versus Two Stage Methylaminolevulinate Unknown status NCT01491711 Phase 4
2 Study Evaluating the Effect of Sirolimus on Non-Melanoma Skin Cancer in Kidney Transplant Recipients Completed NCT00129961 Phase 4
3 CSP #562 - The VA Keratinocyte Carcinoma Chemoprevention Trial Completed NCT00847912 Phase 4
4 VISmodegib for ORbital and Periocular Basal Cell Carcinoma Recruiting NCT02436408 Phase 4
5 Periocular Basal Cell Carcinoma (BCC): Permanent vs. Frozen Section Pathological Control Unknown status NCT00663650 Phase 3
6 A Study to Evaluate the Effectiveness of Imiquimod 5% Cream for Basal Cell Carcinoma Recurrence Completed NCT00129519 Phase 3
7 Fractional CO2 Laser Assisted Photodynamic Therapy Completed NCT01260987 Phase 2, Phase 3
8 Topical Green Tea Ointment in Treatment of Superficial Skin Cancer Completed NCT02029352 Phase 2, Phase 3
9 Topical Imiquimod Compared With Surgery in Treating Patients With Basal Cell Skin Cancer Completed NCT00066872 Phase 3
10 Determine the Efficacy of Topical Tretinoin Cream for the Prevention of Nonmelanoma Skin Cancer Completed NCT00007631 Phase 3
11 Fentanyl Sublingual Spray in Treating Patients With Breakthrough Cancer Pain Completed NCT00538850 Phase 3
12 Surgery Versus Combined Treatment With Curettage and Imiquimod for Nodular Basal Cell Carcinoma Recruiting NCT02242929 Phase 3
13 Platinum Based Chemotherapy or Capecitabine in Treating Patients With Residual Triple-Negative Basal-Like Breast Cancer Following Neoadjuvant Chemotherapy Recruiting NCT02445391 Phase 3
14 A Randomized Controlled Trial of Neoadjuvant Weekly Paclitaxel Versus Weekly Paclitaxel Plus Weekly Carboplatin In Women With Large Operable or Locally Advanced, Triple Negative Breast Cancer Recruiting NCT03168880 Phase 3
15 Safety and Efficacy Study for the Treatment of Non-Aggressive Basal Cell Carcinoma With Photodynamic Therapy Active, not recruiting NCT02144077 Phase 3
16 Darbepoetin Alfa in Patients With Anemic Low or Intermediate-1 Risk Myelodysplastic Syndrome (MDS) Active, not recruiting NCT01362140 Phase 3
17 Doxepin Hydrochloride in Treating Oral Mucositis Pain in Patients With Head and Neck Cancer Undergoing Radiation Therapy With or Without Chemotherapy Active, not recruiting NCT01156142 Phase 3
18 Docetaxel and St. John's Wort in Treating Patients With Solid Tumors That Cannot Be Removed By Surgery Withdrawn NCT00041171 Phase 3
19 Antineoplaston Therapy in Treating Patients With Advanced Head and Neck Cancer Unknown status NCT00003489 Phase 2
20 External-Beam Radiation Therapy With or Without Indinavir and Ritonavir in Treating Patients With Brain Metastases Unknown status NCT00637637 Phase 2
21 A Study to Determine the Value of 18F-FAZA PET Imaging in Patients With Breast Cancer Unknown status NCT00771381 Phase 2
22 To Determine the Maximum Tolerated Dose Level (MTD) of PEP005 Topical Gel in Patients With sBCC Completed NCT00432185 Phase 2
23 Study to Determine the Safety of Two Applications of PEP005 Topical Gel to Nodular Basal Cell Carcinoma Completed NCT00108121 Phase 2
24 Study to Determine the Safety of Two Applications of PEP005 Topical Gel to Superficial Basal Cell Carcinoma Completed NCT00108134 Phase 2
25 Pilot Biomarker Trial to Evaluate the Efficacy of Itraconazole in Patients w/ Basal Cell Carcinomas Completed NCT01108094 Phase 2
26 Evaluation of Efficacy of Photodynamic Therapy in Basal Cell Carcinoma With 6 Months Follow-up Completed NCT00988455 Phase 1, Phase 2
27 A Trial to Evaluate the Safety, Local Tolerability, Pharmacokinetics and Pharmacodynamics of LDE225 on Skin Basal Cell Carcinomas in Gorlin Syndrome Patients Completed NCT00961896 Phase 2
28 Topical Vitamin D3, Diclofenac or a Combination of Both to Treat Basal Cell Carcinoma Completed NCT01358045 Phase 2
29 PEP005 Gel - Evaluation of the Safety and Efficacy of Ingenol Mebutate Gel on a Superficial Basal Cell Carcinoma on the Trunk or Extremities Completed NCT01325688 Phase 2
30 A Study Evaluating the Efficacy and Safety of Vismodegib (GDC-0449) in Operable Basal Cell Carcinoma Completed NCT01201915 Phase 2
31 Trial of Patidegib Gel 2%, 4%, and Vehicle to Decrease the Number of Surgically Eligible Basal Cell Carcinomas (BCC) in Gorlin Syndrome Patients Completed NCT02762084 Phase 2
32 Dose-Ranging Clinical Trial of Topical Creams Containing API 31510 for the Treatment of Superficial Basal Cell Carcinoma Completed NCT00604890 Phase 2
33 Investigation of a Behavioral Substitute for Sunbathing Completed NCT00403377 Phase 1, Phase 2
34 A Study of Vismodegib (GDC-0449) in Patients Treated With Vismodegib in a Previous Genentech-sponsored Phase I or II Cancer Study Completed NCT00959647 Phase 2
35 A Study Evaluating the Efficacy and Safety of Vismodegib (GDC-0449, Hedgehog Pathway Inhibitor) in Patients With Advanced Basal Cell Carcinoma Completed NCT00833417 Phase 2
36 Photochemical Tissue Bonding Completed NCT00586040 Phase 2
37 Immunevasion of Human Papillomavirus (HPV) in Vulvar Intraepithelial Neoplasia 2/3 and Anogenital Warts and Efficiency and Mechanisms of Imiquimod Treatment Completed NCT00941811 Phase 2
38 Erlotinib and Cetuximab With or Without Bevacizumab in Treating Patients With Metastatic or Unresectable Kidney, Colorectal, Head and Neck, Pancreatic, or Non-Small Cell Lung Cancer Completed NCT00101348 Phase 1, Phase 2
39 Bevacizumab in Reducing CNS Side Effects in Patients Who Have Undergone Radiation Therapy to the Brain for Primary Brain Tumor, Meningioma, or Head and Neck Cancer Completed NCT00492089 Phase 2
40 Chemotherapy in Treating Patients With Solid Tumors Completed NCT00003103 Phase 1, Phase 2
41 Epirubicin, Carboplatin, and Capecitabine in Treating Patients With Unresectable Locally Advanced, Metastatic, or Recurrent Solid Tumor Completed NCT00021047 Phase 1, Phase 2
42 Docetaxel in Treating Patients With Solid Tumors Completed NCT00003565 Phase 2
43 Efficacy of Purslane in Treatment of Oral Lichen Planus Completed NCT00746772 Phase 2
44 Gemcitabine and Doxorubicin in Treating Patients With Recurrent or Progressive Head and Neck Cancer Completed NCT00509665 Phase 2
45 Irinotecan/Cisplatin Plus Simvastatin in Extensive Disease-Small Cell Lung Cancer (ED-SCLC) Completed NCT00452634 Phase 2
46 Docetaxel and Erlotinib in Treating Patients With Advanced Non-Small Cell Lung Cancer or Other Solid Tumors Completed NCT00390429 Phase 1, Phase 2
47 Clinical Trial of Patidegib Gel 2%, 4%, and Vehicle Applied Once or Twice Daily to Decrease the Size of Sporadic Nodular Basal Cell Carcinomas Recruiting NCT02828111 Phase 2
48 A Study of the Efficacy and Safety of ASN-002 in Adult Patients With Low-risk Nodular Basal Cell Carcinoma Recruiting NCT02550678 Phase 1, Phase 2
49 Pembrolizumab With or Without Vismodegib in Treating Metastatic or Unresectable Basal Cell Skin Cancer Recruiting NCT02690948 Phase 2
50 Superficial Basal Cell Cancer's Photodynamic Therapy: Comparing Three Photosensitises: HAL and BF-200 ALA Versus MAL Recruiting NCT02367547 Phase 1, Phase 2

Search NIH Clinical Center for Basal Cell Carcinoma 1

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Genetic Tests for Basal Cell Carcinoma 1

Anatomical Context for Basal Cell Carcinoma 1

MalaCards organs/tissues related to Basal Cell Carcinoma 1:

39
Skin

Publications for Basal Cell Carcinoma 1

Variations for Basal Cell Carcinoma 1

UniProtKB/Swiss-Prot genetic disease variations for Basal Cell Carcinoma 1:

66
id Symbol AA change Variation ID SNP ID
1 PTCH1 p.Arg1114Trp VAR_007847 rs587776689

ClinVar genetic disease variations for Basal Cell Carcinoma 1:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PTCH2 NM_003738.4(PTCH2): c.3357+5C> T single nucleotide variant Pathogenic rs587776628 GRCh37 Chromosome 1, 45288736: 45288736
2 SMO NM_005631.4(SMO): c.1604G> T (p.Trp535Leu) single nucleotide variant Pathogenic rs121918347 GRCh37 Chromosome 7, 128850341: 128850341
3 SMO NM_005631.4(SMO): c.1685G> A (p.Arg562Gln) single nucleotide variant Pathogenic rs121918348 GRCh37 Chromosome 7, 128850838: 128850838
4 PTCH1 PTCH1, PRO-SER, 451C-T single nucleotide variant Pathogenic
5 PTCH1 NM_000264.3(PTCH1): c.3340A> T (p.Arg1114Trp) single nucleotide variant Pathogenic rs587776689 GRCh37 Chromosome 9, 98215869: 98215869
6 RASA1 NM_002890.2(RASA1): c.1193G> T (p.Arg398Leu) single nucleotide variant Pathogenic rs137853214 GRCh37 Chromosome 5, 86645121: 86645121
7 RASA1 NM_002890.2(RASA1): c.1198A> G (p.Lys400Glu) single nucleotide variant Pathogenic rs137853215 GRCh37 Chromosome 5, 86645126: 86645126
8 RASA1 NM_002890.2(RASA1): c.1201A> G (p.Ile401Val) single nucleotide variant Pathogenic rs137853216 GRCh37 Chromosome 5, 86645129: 86645129
9 PALB2 NM_024675.3(PALB2): c.1451T> A (p.Leu484Ter) single nucleotide variant Pathogenic rs786203714 GRCh37 Chromosome 16, 23646416: 23646416
10 SMO NM_005631.4(SMO): c.1417G> C (p.Asp473His) single nucleotide variant Pathogenic rs17710891 GRCh37 Chromosome 7, 128849189: 128849189

Cosmic variations for Basal Cell Carcinoma 1:

9 (show top 50) (show all 223)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1 COSM44130 TP53 skin,NS,carcinoma,basal cell carcinoma c.477C>T p.A159A 24
2 COSM43920 TP53 skin,NS,carcinoma,basal cell carcinoma c.680C>T p.S227F 24
3 COSM10705 TP53 skin,NS,carcinoma,basal cell carcinoma c.586C>T p.R196* 24
4 COSM10654 TP53 skin,NS,carcinoma,basal cell carcinoma c.637C>T p.R213* 24
5 COSM45774 TP53 skin,NS,carcinoma,basal cell carcinoma c.899C>G p.P300R 24
6 COSM11084 TP53 skin,NS,carcinoma,basal cell carcinoma c.517G>A p.V173M 24
7 COSM10662 TP53 skin,NS,carcinoma,basal cell carcinoma c.743G>A p.R248Q 24
8 COSM44097 TP53 skin,NS,carcinoma,basal cell carcinoma c.530C>T p.P177L 24
9 COSM44603 TP53 skin,NS,carcinoma,basal cell carcinoma c.835G>A p.G279R 24
10 COSM45424 TP53 skin,NS,carcinoma,basal cell carcinoma c.781A>T p.S261C 24
11 COSM44435 TP53 skin,NS,carcinoma,basal cell carcinoma c.96+1G>A p.? 24
12 COSM10659 TP53 skin,NS,carcinoma,basal cell carcinoma c.817C>T p.R273C 24
13 COSM10728 TP53 skin,NS,carcinoma,basal cell carcinoma c.839G>A p.R280K 24
14 COSM43837 TP53 skin,NS,carcinoma,basal cell carcinoma c.843C>G p.D281E 24
15 COSM10749 TP53 skin,NS,carcinoma,basal cell carcinoma c.830G>T p.C277F 24
16 COSM45322 TP53 skin,NS,carcinoma,basal cell carcinoma c.757A>G p.T253A 24
17 COSM10995 TP53 skin,NS,carcinoma,basal cell carcinoma c.580C>T p.L194F 24
18 COSM43582 TP53 skin,NS,carcinoma,basal cell carcinoma c.454C>T p.P152S 24
19 COSM10656 TP53 skin,NS,carcinoma,basal cell carcinoma c.742C>T p.R248W 24
20 COSM10650 TP53 skin,NS,carcinoma,basal cell carcinoma c.529C>T p.P177S 24
21 COSM11152 TP53 skin,NS,carcinoma,basal cell carcinoma c.700T>C p.Y234H 24
22 COSM10726 TP53 skin,NS,carcinoma,basal cell carcinoma c.856G>A p.E286K 24
23 COSM10794 TP53 skin,NS,carcinoma,basal cell carcinoma c.796G>A p.G266R 24
24 COSM10939 TP53 skin,NS,carcinoma,basal cell carcinoma c.832C>T p.P278S 24
25 COSM10648 TP53 skin,NS,carcinoma,basal cell carcinoma c.524G>A p.R175H 24
26 COSM45304 TP53 skin,NS,carcinoma,basal cell carcinoma c.375+1G>A p.? 24
27 COSM44398 TP53 skin,NS,carcinoma,basal cell carcinoma c.682G>A p.D228N 24
28 COSM44606 TP53 skin,NS,carcinoma,basal cell carcinoma c.665C>T p.P222L 24
29 COSM44310 TP53 skin,NS,carcinoma,basal cell carcinoma c.738G>A p.M246I 24
30 COSM11376 TP53 skin,NS,carcinoma,basal cell carcinoma c.737T>G p.M246R 24
31 COSM10867 TP53 skin,NS,carcinoma,basal cell carcinoma c.797G>A p.G266E 24
32 COSM10812 TP53 skin,NS,carcinoma,basal cell carcinoma c.722C>T p.S241F 24
33 COSM10704 TP53 skin,NS,carcinoma,basal cell carcinoma c.844C>T p.R282W 24
34 COSM43842 TP53 skin,NS,carcinoma,basal cell carcinoma c.770T>C p.L257P 24
35 COSM6549 TP53 skin,NS,carcinoma,basal cell carcinoma c.743G>T p.R248L 24
36 COSM45733 TP53 skin,NS,carcinoma,basal cell carcinoma c.432G>A p.Q144Q 24
37 COSM6932 TP53 skin,NS,carcinoma,basal cell carcinoma c.733G>A p.G245S 24
38 COSM44226 TP53 skin,NS,carcinoma,basal cell carcinoma c.380C>T p.S127F 24
39 COSM10768 TP53 skin,NS,carcinoma,basal cell carcinoma c.535C>T p.H179Y 24
40 COSM10905 TP53 skin,NS,carcinoma,basal cell carcinoma c.451C>T p.P151S 24
41 COSM43714 TP53 skin,NS,carcinoma,basal cell carcinoma c.836G>A p.G279E 24
42 COSM43583 TP53 skin,NS,carcinoma,basal cell carcinoma c.425C>T p.P142L 24
43 COSM10863 TP53 skin,NS,carcinoma,basal cell carcinoma c.833C>T p.P278L 24
44 COSM11449 TP53 skin,NS,carcinoma,basal cell carcinoma c.388C>T p.L130F 24
45 COSM43700 TP53 skin,NS,carcinoma,basal cell carcinoma c.712T>A p.C238S 24
46 COSM45751 TP53 skin,NS,carcinoma,basal cell carcinoma c.511G>C p.E171Q 24
47 COSM44126 TP53 skin,NS,carcinoma,basal cell carcinoma c.507G>A p.M169I 24
48 COSM45074 TP53 skin,NS,carcinoma,basal cell carcinoma c.829T>G p.C277G 24
49 COSM10988 TP53 skin,NS,carcinoma,basal cell carcinoma c.772G>A p.E258K 24
50 COSM45732 TP53 skin,NS,carcinoma,basal cell carcinoma c.480G>C p.M160I 24

Expression for Basal Cell Carcinoma 1

Search GEO for disease gene expression data for Basal Cell Carcinoma 1.

Pathways for Basal Cell Carcinoma 1

Pathways related to Basal Cell Carcinoma 1 according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.37 PTCH1 PTCH2 SMO
2 12.18 PTCH1 PTCH2 SMO
3
Show member pathways
11.9 PTCH1 PTCH2 SMO
4
Show member pathways
11.79 PTCH1 PTCH2 SMO
5 11.57 PTCH1 RASA1 SMO
6
Show member pathways
11.24 PTCH1 PTCH2 SMO
7 10.96 PTCH1 SMO
8
Show member pathways
10.28 PTCH1 PTCH2 SMO

GO Terms for Basal Cell Carcinoma 1

Cellular components related to Basal Cell Carcinoma 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 endocytic vesicle membrane GO:0030666 9.16 PTCH1 SMO
2 caveola GO:0005901 8.96 PTCH1 SMO
3 ciliary membrane GO:0060170 8.62 PTCH1 SMO

Biological processes related to Basal Cell Carcinoma 1 according to GeneCards Suite gene sharing:

(show all 17)
id Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.87 PTCH1 PTCH2 RASA1 SMO
2 epidermis development GO:0008544 9.56 PTCH1 PTCH2
3 smoothened signaling pathway GO:0007224 9.55 PTCH1 SMO
4 vasculogenesis GO:0001570 9.54 RASA1 SMO
5 pattern specification process GO:0007389 9.52 PTCH1 SMO
6 heart morphogenesis GO:0003007 9.51 PTCH1 SMO
7 dorsal/ventral pattern formation GO:0009953 9.49 PTCH1 SMO
8 embryonic organ development GO:0048568 9.48 PTCH1 SMO
9 renal system development GO:0072001 9.46 PTCH1 SMO
10 negative regulation of smoothened signaling pathway GO:0045879 9.43 PTCH1 PTCH2
11 cell fate determination GO:0001709 9.4 PTCH1 PTCH2
12 somite development GO:0061053 9.37 PTCH1 SMO
13 mammary gland epithelial cell differentiation GO:0060644 9.32 PTCH1 SMO
14 dorsal/ventral neural tube patterning GO:0021904 9.26 PTCH1 SMO
15 cellular response to cholesterol GO:0071397 9.16 PTCH1 SMO
16 positive regulation of epidermal cell differentiation GO:0045606 8.96 PTCH1 PTCH2
17 epidermal cell fate specification GO:0009957 8.62 PTCH1 PTCH2

Molecular functions related to Basal Cell Carcinoma 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 patched binding GO:0005113 9.26 PTCH1 SMO
2 hedgehog family protein binding GO:0097108 9.16 PTCH1 PTCH2
3 hedgehog receptor activity GO:0008158 8.96 PTCH1 PTCH2
4 smoothened binding GO:0005119 8.62 PTCH1 PTCH2

Sources for Basal Cell Carcinoma 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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