MCID: BSL007
MIFTS: 67

Basal Cell Carcinoma

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

Aliases & Classifications for Basal Cell Carcinoma

MalaCards integrated aliases for Basal Cell Carcinoma:

Name: Basal Cell Carcinoma 12 73 36 29 6 15 17 70
Basal Cell Neoplasm 12 17 70
Basal Cell Cancer 12 54 70
Malignant Basal Cell Tumor 12 70
Experimental Organism Basal Cell Carcinoma 70
Nodulo-Ulcerative Basal Cell Carcinoma 70
Malignant Basal Cell Neoplasm 12
Basal Cell Carcinoma of Skin 12
Epithelioma Basal Cell 12
Neoplasms, Basal Cell 44
Basal Cell Carcinomas 15
Carcinoma Basal Cell 54
Basal Cell Tumor 12
Rodent Ulcer 12

Classifications:



External Ids:

Disease Ontology 12 DOID:2513
KEGG 36 H00039
MeSH 44 D018295
UMLS 70 C0007117 C0206710 C0751676 more

Summaries for Basal Cell Carcinoma

KEGG : 36 Cancer of the skin is the most common cancer in Caucasians and basal cell carcinomas (BCC) account for 90% of all skin cancers. The vast majority of BCC cases are sporadic, though there is a rare familial syndrome basal cell nevus syndrome (BCNS, or Gorlin syndrome) that predisposes to development of BCC. In addition, there is strong epidemiological and genetic evidence that demonstrates UV exposure as a risk factor of prime importance. The development of basal cell carcinoma is associated with constitutive activation of sonic hedgehog signaling. The mutations in SMOH, PTCH1, and SHH in BCCs result in continuous activation of target genes. At a cellular level, sonic hedgehog signaling promotes cell proliferation. Mutations in TP53 are also found with high frequency (>50%) in sporadic BCC.

MalaCards based summary : Basal Cell Carcinoma, also known as basal cell neoplasm, is related to basal cell nevus syndrome and basal cell carcinoma 1. An important gene associated with Basal Cell Carcinoma is SMO (Smoothened, Frizzled Class Receptor), and among its related pathways/superpathways are Basal cell carcinoma and ERK Signaling. The drugs Imiquimod and Fluorouracil have been mentioned in the context of this disorder. Affiliated tissues include skin, prostate and kidney, and related phenotypes are digestive/alimentary and embryo

Disease Ontology : 12 A skin carcinoma affecting basal cells.

Wikipedia : 73 Basal-cell carcinoma (BCC), also known as basal-cell cancer, is the most common type of skin cancer. It... more...

Related Diseases for Basal Cell Carcinoma

Diseases in the Small Cell Carcinoma family:

Basal Cell Carcinoma 1 Basal Cell Carcinoma 2
Basal Cell Carcinoma 3 Basal Cell Carcinoma 4
Basal Cell Carcinoma 5 Basal Cell Carcinoma 6
Basal Cell Carcinoma 7 Basal Cell Carcinoma
Large Cell Carcinoma Basal Cell Carcinoma, Multiple

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

(show top 50) (show all 717)
# Related Disease Score Top Affiliating Genes
1 basal cell nevus syndrome 34.1 TP53 SUFU SMO SHH PTCH2 PTCH1
2 basal cell carcinoma 1 33.8 SMO RASA1 PTCH2 PTCH1 BCC1
3 basal cell carcinoma, infundibulocystic 33.5 SUFU PTCH1
4 basal cell carcinoma, multiple 33.3 RASA1 PTCH1
5 skin carcinoma 33.0 TP53 SUFU SMO SHH PTCH2 PTCH1
6 clear cell basal cell carcinoma 32.9 TP53 PTCH1
7 medulloblastoma 32.2 TP53 SUFU SMO SHH PTCH2 PTCH1
8 focal dermal hypoplasia 32.0 SUFU SHH PTCH2 PTCH1
9 ameloblastoma 31.8 TP53 SMO PTCH1 GLI1 CTNNB1
10 keratocystic odontogenic tumor 31.7 TP53 SUFU SMO SHH PTCH1 GLI1
11 skin benign neoplasm 31.6 PTCH1 GLI2 GLI1
12 basosquamous carcinoma 31.5 TP53 PTCH1
13 rhabdomyosarcoma 31.4 TP53 SUFU SHH PTCH2 PTCH1 GLI1
14 meningioma, familial 31.2 TP53 SUFU RASA1 PTCH1
15 cleft palate, isolated 31.1 SHH PTCH1 GLI2 GLI1 CTNNB1
16 childhood medulloblastoma 31.0 TP53 SUFU PTCH1 GLI2 CTNNB1
17 neural tube defects 31.0 TP53 SUFU SHH PTCH1 CTNNB1
18 pancreatic cancer 31.0 TP53 SMO SHH PTCH1 PALB2 GLI1
19 embryonal rhabdomyosarcoma 30.9 TP53 PTCH1 GLI1
20 melanoma, cutaneous malignant 1 30.9 TP53 PALB2 CTNNB1 CDKN2B-AS1
21 polydactyly 30.9 SHH PTCH1 GLI2 GLI1
22 nodular medulloblastoma 30.8 SUFU SHH PTCH2 PTCH1 GLI2 GLI1
23 brain cancer 30.7 TP53 SHH PTCH1 GLI1 CTNNB1
24 glioma 30.7 TP53 GLI1 CDKN2B-AS1 BAX
25 brain stem medulloblastoma 30.7 SHH CTNNB1
26 mammary analogue secretory carcinoma 30.6 TP53 CTNNB1
27 meningioma, radiation-induced 30.5 SUFU SMO
28 nodular basal cell carcinoma 11.8
29 basal cell carcinoma 7 11.7
30 superficial basal cell carcinoma 11.7
31 pigmented basal cell carcinoma 11.7
32 metatypical basal cell carcinoma 11.7
33 rombo syndrome 11.6
34 micronodular basal cell carcinoma 11.6
35 anal margin basal cell carcinoma 11.6
36 penis basal cell carcinoma 11.6
37 morpheaform basal cell carcinoma 11.6
38 cystic basal cell carcinoma 11.5
39 adenoid basal cell carcinoma 11.5
40 sarcomatoid basal cell carcinoma 11.5
41 basal cell carcinoma 2 11.5
42 basal cell carcinoma 5 11.5
43 basal cell carcinoma 3 11.5
44 basal cell carcinoma 6 11.5
45 vulva basal cell carcinoma 11.5
46 basal cell carcinoma 4 11.5
47 external ear basal cell carcinoma 11.5
48 signet ring basal cell carcinoma 11.5
49 vulvar basal cell carcinoma 11.5
50 infiltrative basal cell carcinoma 11.5

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



Diseases related to Basal Cell Carcinoma

Symptoms & Phenotypes for Basal Cell Carcinoma

MGI Mouse Phenotypes related to Basal Cell Carcinoma:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 10.21 CTNNB1 GLI1 GLI2 PTCH1 PTCH2 RASA1
2 embryo MP:0005380 10.19 CTNNB1 GLI1 GLI2 PALB2 PTCH1 RASA1
3 craniofacial MP:0005382 10.18 CTNNB1 GLI1 GLI2 PTCH1 RASA1 SHH
4 limbs/digits/tail MP:0005371 10.17 BAX CTNNB1 GLI1 GLI2 PALB2 PTCH1
5 integument MP:0010771 10.11 CTNNB1 GLI2 PALB2 PTCH1 PTCH2 SHH
6 nervous system MP:0003631 10.1 BAX CTNNB1 GLI1 GLI2 PALB2 PTCH1
7 hearing/vestibular/ear MP:0005377 10.08 BAX CTNNB1 GLI2 PTCH1 RASA1 SHH
8 muscle MP:0005369 10.06 BAX CTNNB1 GLI2 PTCH1 PTCH2 RASA1
9 neoplasm MP:0002006 10.02 BAX CTNNB1 GLI1 PALB2 PTCH1 PTCH2
10 no phenotypic analysis MP:0003012 9.86 CTNNB1 GLI1 GLI2 PTCH1 RASA1 SHH
11 normal MP:0002873 9.81 CTNNB1 GLI1 GLI2 PTCH1 PTCH2 SHH
12 respiratory system MP:0005388 9.61 BAX CTNNB1 GLI1 GLI2 PTCH1 SHH
13 vision/eye MP:0005391 9.28 BAX CTNNB1 GLI2 PTCH1 RASA1 SHH

Drugs & Therapeutics for Basal Cell Carcinoma

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

(show top 50) (show all 187)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Imiquimod Approved, Investigational Phase 4 99011-02-6 57469
2
Fluorouracil Approved Phase 4 51-21-8 3385
3
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
4 Antiviral Agents Phase 4
5 Interferon-alpha Phase 4
6 Triamcinolone hexacetonide Phase 4
7 Triamcinolone diacetate Phase 4
8 triamcinolone acetonide Phase 4
9 Tin Fluorides Phase 4
10 polysaccharide-K Phase 4
11
Aminolevulinic acid Approved Phase 3 106-60-5 137
12
Verteporfin Approved, Investigational Phase 3 129497-78-5
13
Tretinoin Approved, Investigational, Nutraceutical Phase 3 302-79-4 5538 444795
14 Veratrum Alkaloids Phase 3
15 Antihypertensive Agents Phase 3
16 Photosensitizing Agents Phase 3
17 Dermatologic Agents Phase 3
18 Methyl 5-aminolevulinate Phase 3
19 Tea Phase 2, Phase 3
20
Arsenic trioxide Approved, Investigational Phase 1, Phase 2 1327-53-3 518740
21
Pembrolizumab Approved Phase 1, Phase 2 1374853-91-4
22
Diclofenac Approved, Vet_approved Phase 2 15307-86-5 3033
23
Cetuximab Approved Phase 1, Phase 2 205923-56-4 56842117 2333
24
Bevacizumab Approved, Investigational Phase 2 216974-75-3
25
Irinotecan Approved, Investigational Phase 2 97682-44-5, 100286-90-6 60838
26
Oxaliplatin Approved, Investigational Phase 2 61825-94-3 5310940 9887054 6857599 43805
27
leucovorin Approved Phase 2 58-05-9 6006
28
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
29
Ipilimumab Approved Phase 2 477202-00-9
30
nivolumab Approved Phase 2 946414-94-4
31
Talimogene laherparepvec Approved, Experimental, Investigational Phase 2 1187560-31-1
32
Nicotinamide Approved, Investigational Phase 2 98-92-0 936
33
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
34
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
35
Cemiplimab Approved, Investigational Phase 2 1801342-60-8
36
Benzoic acid Approved, Investigational Phase 2 65-85-0 243
37
Fluoxymesterone Approved, Illicit Phase 1, Phase 2 76-43-7 6446
38
Levoleucovorin Approved, Investigational Phase 2 68538-85-2 149436
39
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
40
Etoposide Approved Phase 2 33419-42-0 36462
41
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
42
Carboplatin Approved Phase 2 41575-94-4 10339178 498142 38904
43
Cisplatin Approved Phase 2 15663-27-1 84093 441203 2767
44
Vincristine Approved, Investigational Phase 2 2068-78-2, 57-22-7 5978
45
Lomustine Approved, Investigational Phase 2 13010-47-4 3950
46
Calcitriol Approved, Nutraceutical Phase 2 32222-06-3 134070 5280453
47
Aspartic acid Approved, Nutraceutical Phase 1, Phase 2 56-84-8 5960
48
Glycine Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 56-40-6 750
49
Niacin Approved, Investigational, Nutraceutical Phase 2 59-67-6 938
50
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037

Interventional clinical trials:

(show top 50) (show all 253)
# Name Status NCT ID Phase Drugs
1 Treatment of Superficial Basal Cell Carcinoma by Topical Photodynamic Therapy With Fractionated 5-aminolevulinic Acid 20% Versus Two Stage Topical Photodynamic Therapy With Methylaminolevulinate Unknown status NCT01491711 Phase 4 Methylaminolevulinate PDT in 2 sessions;Fractionated 5-aminolevulinic acid hydrochloride 20% gel PDT
2 Imiquimod 5% Cream for the Treatment of Periocular Basal Cell Carcinoma Unknown status NCT00803907 Phase 4 Imiquimod 5% cream
3 Intron-A/Aldara Combination Therapy for BCC Excluding the Face and Scalp Completed NCT00581425 Phase 4
4 Topical Imiquimod 5% Cream in the Treatment of Nodular Basal Cell Carcinoma After Initial Treatment With Curettage Completed NCT00314756 Phase 4 imiquimod
5 A Randomized Open Label Study to Evaluate the Safety and Efficacy if Imiquimod 5% Cream Applied 3 Times Per Week for 8 or 12 Weeks in the Treatment of Low Risk Nodular Basal Cell Carcinoma Completed NCT00204555 Phase 4 Imiquimod
6 CSP #562 - The VA Keratinocyte Carcinoma Chemoprevention Trial Completed NCT00847912 Phase 4 5-fluorouracil;Placebo, vehicle control
7 Study of the Relationship Between the Pharmacokinetics of Vismodegib and Safety Data: a Pilot Study to Therapeutic Optimization in Patients With Basal Cell Carcinoma - OPTIVISMO-1 Recruiting NCT03610022 Phase 4 Treatment with vismodegib
8 VISmodegib for ORbital and Periocular Basal Cell Carcinoma (VISORB) Active, not recruiting NCT02436408 Phase 4 Vismodegib
9 A Randomized Clinical Trial in the Surgical Treatment of Basal Cell Carcinoma of the Eyelid: Surgical Excision With Frozen Section vs. Permanent Section Control Unknown status NCT00663650 Phase 3
10 Open Label, Randomized Comparison of Two Schemes of Cryosurgery and Imiquimod Combination Treatment for Basal Cell Carcinoma of the Skin Completed NCT01212549 Phase 3
11 A Randomized, Observer Blind, Multinational Phase III Study to Evaluate the Safety and Efficacy of BF-200 ALA (Ameluz®) in Comparison to Metvix® in the Treatment of Non-aggressive Basal Cell Carcinoma (BCC) With Photodynamic Therapy (PDT) Completed NCT02144077 Phase 3 BF-200 ALA;methyl-aminolevulinate
12 A Multicentre, Phase III, Double Blind Study of Photodynamic Therapy (PDT) With Metvix® 160 mg/g Cream in Comparison to PDT With Placebo Cream in Patients With Primary Nodular Basal Cell Carcinoma. Completed NCT00472043 Phase 3
13 A Multicenter, Phase III, Randomised Study of Photodynamic Therapy With Metvix Cream 160 mg/g in Comparison With Cryotherapy in Patients With Primary Superficial Basal Cell Carcinoma Completed NCT00469417 Phase 3
14 An Open-label Study to Evaluate the Safety and Long-Term Clinical Efficacy of Imiquimod 5% Cream Applied Once Daily 7 Days Per Week for 6 Weeks in the Treatment of Superficial Basal Cell Carcinoma Completed NCT00189306 Phase 3 Imiquimod 5% cream
15 An Open-Label Study to Evaluate the Safety and Long-Term Clinical Efficacy of Imiquimod 5% Cream Applied Once Daily 5 Days Per Week for 6 Weeks in the Treatment of Superficial Basal Cell Carcinoma Completed NCT00189241 Phase 3 imiquimod
16 Open-label Study to Evaluate the Use of Imiquimod 5% Cream for Reducing Postsurgical Recurrence or Persistence of Basal Cell Carcinoma Following Excision by Curettage Completed NCT00129519 Phase 3 Imiquimod 5% cream
17 An Open Multicenter, Phase III Study of Photodynamic Therapy With Metvix Cream 160 mg/g in Patients With "High Risk" Basal Cell Carcinoma Completed NCT00473343 Phase 3
18 A Multicenter, Phase III, Double Blind Study of Photodynamic Therapy (PDT) With Metvix 160 mg/g Cream in Comparison to PDT With Placebo Cream in Patients With Primary Nodular Basal Cell Carcinoma Completed NCT00472108 Phase 3
19 A Multicenter, Randomized, Double-blind, Vehicle-controlled, Phase 3 Efficacy and Safety Study of Patidegib Topical Gel, 2%, for the Reduction of Disease Burden of Persistently Developing Basal Cell Carcinomas (BCCs) in Subjects With Basal Cell Nevus Syndrome Completed NCT03703310 Phase 3 Patidegib Topical Gel, 2%;Patidegib Topical Gel, Vehicle
20 Topical Sinecatechins Ointment in Treatment of Primary Superficial Basal Cell Carcinoma: a Double Blind, Randomized, Placebo-controlled Trial. Completed NCT02029352 Phase 2, Phase 3 Sinecatechins 10%;Placebo
21 Open Study to Evaluate the Efficacy and Tolerance of Imiquimod 5% Cream for the Treatment of a Large and/or Multiple Superficial Basal Cell Carcinoma. Completed NCT00189280 Phase 3 Imiquimod
22 A Randomized Controlled Trial of Excisional Surgery Versus Imiquimod 5% Cream for Nodular and Superficial Basal Cell Carcinoma Completed NCT00066872 Phase 3 imiquimod
23 CSP #402 - VA Topical Tretinoin Chemoprevention Trial Completed NCT00007631 Phase 3 Tretinoin 0.1% cream or placebo
24 Conventional Versus Fractional CO2 Laser Assisted Photodynamic Therapy for Basal Call Carcinomas and Actinic Keratoses Completed NCT01260987 Phase 2, Phase 3 Conventional photodynamic therapy;Fractional CO2 laser assisted PDT
25 A Multicentre, Randomised Study of Photodynamic Therapy(PDT) With Metvix® 160 mg/g Cream in Immuno-compromised Patients With Non-melanoma Skin Cancer Completed NCT00472459 Phase 3
26 A Randomized, Double Blind, Vehicle-controlled Multicenter Phase III Study to Evaluate the Safety and Efficacy of BF-200 ALA (Ameluz®) and BF-RhodoLED® in the Treatment of Superficial Basal Cell Carcinoma (sBCC) With Photodynamic Therapy (PDT). Recruiting NCT03573401 Phase 3
27 Surgical Excision Versus Combined Treatment With Curettage and Imiquimod for Nodular Basal Cell Carcinoma: an Open, Non-inferiority, Randomized Controlled Trial Active, not recruiting NCT02242929 Phase 3 Imiquimod 5% cream with prior curettage
28 A Randomized, Placebo-Controlled, Masked, Multicenter Phase III Study Of Photodynamic Therapy With Verteporfin For Injection (VFI) For The Treatment Of Multiple Basal Cell Carcinoma Terminated NCT00049959 Phase 3 verteporfin PDT
29 A Randomized, Double-blind, Vehicle-controlled, Multicenter Trial of Topically Administered LDE225 Cream (0.75% Bid) to Evaluate Clearance of Basal Cell Carcinoma in Adult Patients With Nevoid Basal Cell Carcinoma Syndrome Withdrawn NCT03070691 Phase 2, Phase 3 LDE225B;Vehicle
30 Open, Prospective, Single-center Study Evaluating the Efficacy and Safety of 0.05% Ingenol Mebutate (Picato® 500) in the Treatment of Basal Cell Carcinoma Unknown status NCT03546166 Phase 2 Picato 0.05% Topical Gel
31 A Phase II, Single-armed, Multicenter Trial of Neoadjuvant Vismodegib in Patients With Large and/or Recurrent Resectable Basal Cell Carcinoma Unknown status NCT03035188 Phase 2 Vismodegib
32 Treatment of Basal Cell Carcinomas With Methyl Aminolevulinate and Daylight Unknown status NCT01349361 Phase 2
33 Investigation of the Effectiveness of Non-Coherent Blue Light in Intralesional Photodynamic of Basal Cell Carcinoma Unknown status NCT00747903 Phase 2 aminolevulinic acid hydrochloride
34 Evaluation of Efficacy of Photodynamic Therapy in Basal Cell Carcinoma With 6 Months Follow-up Completed NCT00988455 Phase 1, Phase 2
35 Phase IIb Open-label Trial of SUBA™-Itraconazole in Subjects With Basal Cell Carcinoma Nevus Syndrome (BCCNS) Completed NCT02354261 Phase 2 SUBA-Itraconazole
36 A Multi-Center, Randomized, Double-Blind, Parallel-Group, Vehicle-Controlled Study to Determine the Safety of PEP005 0.0025%, 0.01% and 0.05% Gel With Two Treatment Schedules, Day 1 & 2 or Day 1 & 8 Applications to Superficial Basal Cell Carcinoma Completed NCT00108134 Phase 2 PEP005
37 A Multi-center, Randomized, Double-blind, Parallel-group, Vehicle-controlled Study to Determine the Safety of PEP005 0.0025%, 0.01% and 0.05% Gel With Two Treatment Schedules, Day 1 & 2 or Day 1 & 8 Applications to Nodular Basal Cell Carcinoma Completed NCT00108121 Phase 2 PEP005
38 Investigation of Local Skin Reactions and Safety After Combined Treatment of Basal Cell Carcinoma Using Ablative Fractional Laser and Ingenol Mebutate - an Exploratory, Prospective, Open-label Phase 2a Trial. Completed NCT03569345 Phase 1, Phase 2 AFXl-assisted ingenol mebutate delivery
39 Double-Blind, Dose Escalating, Randomized, Vehicle-Controlled Proof of Concept Clinical Trial of Patidegib Gel 2%, 4%, and Vehicle Applied Once or Twice Daily to Decrease the GLI1 Biomarker in Sporadic Nodular Basal Cell Carcinomas Completed NCT02828111 Phase 2 Patidegib;Vehicle gel
40 A Double-blind, Randomized, Vehicle-controlled Proof of Concept (PoC) Study to Evaluate the Safety, Local Tolerability, Pharmacokinetics and Pharmacodynamics of Multiple Topical Administrations of LDE225 (a Specific Smoothened Inhibitor) on Skin Basal Cell Carcinomas in Gorlin Syndrome Patients Followed by an Open Label, Randomized Expansion Group to Test Two Different Strengths of an Improved LDE225 Formulation for Extended Treatment Durations Completed NCT00961896 Phase 2 Vehicle;LDE225 0.25%;LDE225 0.75%
41 Pilot Biomarker Trial to Evaluate the Efficacy of Itraconazole in Patients With Basal Cell Carcinomas Completed NCT01108094 Phase 2 Itraconazole
42 A Randomized, Double-blinded, Regimen-controlled, Phase II, Multicenter Study to Assess the Efficacy and Safety of Two Different Vismodegib Regimens in Patients With Multiple Basal Cell Carcinomas Completed NCT01815840 Phase 2 Vismodegib;Placebo
43 ML28485:Phase 2B Single-site,Open-label,Nonrandomized Study Evaluating Efficacy of Oral Vismodegib in Various Histologic Subtypes (Infiltrative/Morpheaform,Nodular and Superficial)of High Risk and/or Locally Advanced Basal Cell Carcinoma Completed NCT01700049 Phase 2 vismodegib (150 mg PO daily)
44 Photochemical Tissue Bonding (PTB) for Excisional Wound Healing Completed NCT00586040 Phase 2
45 A Pivotal Phase II, Multicenter, Single-arm, Two-cohort Trial Evaluating the Efficacy and Safety of GDC-0449 in Patients With Advanced Basal Cell Carcinoma Completed NCT00833417 Phase 2 Vismodegib 150 mg
46 Phase IIa Trial With PD-L1 IO103 Vaccination With Montanide in Patients With Basal Cell Carcinoma Completed NCT03714529 Phase 2
47 A Phase 1b Open Label Study of Pembrolizumab for Unresectable or Metastatic Basal Cell Carcinoma Completed NCT02690948 Phase 1, Phase 2 Vismodegib
48 Topical Vitamin D3, Diclofenac or a Combination of Both to Treat Basal Cell Carcinoma Completed NCT01358045 Phase 2 Diclofenac;Diclofenac + Calcitriol;Calcitriol
49 A Phase II, Double-blind, Randomized, Proof-of-Concept, Dose-ranging Trial Evaluating the Efficacy, Safety and Pharmacokinetics of Oral LDE225 in Treatment of Adult Patients With Nevoid Basal Cell Carcinoma Syndrome Completed NCT01350115 Phase 2 LDE225;Placebo
50 Placebo-controlled, Double Blind Study to Assess Efficacy and Safety of Oral Vismodegib for the Treatment of Basal Cell Carcinoma Preceding Excision by Mohs Micrographic Surgery (MMS) Completed NCT01543581 Phase 2 Vismodegib;Placebo

Search NIH Clinical Center for Basal Cell Carcinoma

Inferred drug relations via UMLS 70 / NDF-RT 51 :


Fluorouracil

Cochrane evidence based reviews: neoplasms, basal cell

Genetic Tests for Basal Cell Carcinoma

Genetic tests related to Basal Cell Carcinoma:

# Genetic test Affiliating Genes
1 Basal Cell Carcinoma 29

Anatomical Context for Basal Cell Carcinoma

MalaCards organs/tissues related to Basal Cell Carcinoma:

40
Skin, Prostate, Kidney, Eye, Thyroid, Bone, Lymph Node

Publications for Basal Cell Carcinoma

Articles related to Basal Cell Carcinoma:

(show top 50) (show all 11920)
# Title Authors PMID Year
1
Smoothened variants explain the majority of drug resistance in basal cell carcinoma. 6 61
25759020 2015
2
Vismodegib. 61 6
22679179 2012
3
Smoothened mutation confers resistance to a Hedgehog pathway inhibitor in medulloblastoma. 6
19726788 2009
4
Xeroderma pigmentosum skin: an immune privilege site for tumor development. 61 54
19719835 2010
5
The glutathione-S-transferase P1 polymorphisms correlates with changes in expression of TP53 tumor suppressor in cutaneous basal cell carcinoma. 54 61
19800766 2009
6
Cloning of the human GLI2 Promoter: transcriptional activation by transforming growth factor-beta via SMAD3/beta-catenin cooperation. 54 61
19797115 2009
7
[Markers expression of cell proliferation and apoptosis in basal cell carcinoma]. 54 61
20191172 2009
8
GLI1 genotypes do not predict basal cell carcinoma risk: a case control study. 54 61
19948058 2009
9
Modification of alternative splicing of Mcl-1 pre-mRNA using antisense morpholino oligonucleotides induces apoptosis in basal cell carcinoma cells. 61 54
19369967 2009
10
The immunoprofile of odontogenic keratocyst (keratocystic odontogenic tumor) that includes expression of PTCH, SMO, GLI-1 and bcl-2 is similar to ameloblastoma but different from odontogenic cysts. 61 54
19473442 2009
11
Correlation and expression of COX-2 and P53 protein in basal cell carcinoma of eyelid. 61 54
19513627 2009
12
Deregulation of the tumour suppressor genes p14(ARF), p15(INK4b), p16(INK4a) and p53 in basal cell carcinoma. 61 54
19298278 2009
13
Early detection of chromosome 9q22.32q31.1 microdeletion and the nevoid basal cell carcinoma syndrome. 61 54
19233320 2009
14
Proteinase-activated receptor-2 expression in basal and squamous cell carcinomas compared with normal skin. 61 54
19032384 2009
15
Lack of evidence for activation of the hedgehog pathway in psoriasis. 54 61
18754037 2009
16
A novel PTCH1 germline mutation distinguishes basal cell carcinoma from basaloid follicular hamartoma: a case report. 61 54
19203369 2009
17
Immunohistochemical detection of p53 protein in basal cell skin cancer after microwave-assisted antigen retrieval. 61 54
19096907 2009
18
Elevated frequency of p53 genetic mutations and AgNOR values in squamous cell carcinoma. 61 54
18715257 2009
19
The contribution of melanocortin 1 receptor gene polymorphisms and the agouti signalling protein gene 8818A>G polymorphism to cutaneous melanoma and basal cell carcinoma in a Polish population. 54 61
18637131 2009
20
The expression of p63 and p53 in keratoacanthoma and intraepidermal and invasive neoplasms of the skin. 61 54
19577853 2009
21
Immunohistochemical galectin-3 expression in non-melanoma skin cancers. 54 61
18951731 2009
22
Missense polymorphisms in matrix metalloproteinase genes and skin cancer risk. 54 61
19064570 2008
23
Characteristic overexpression of the forkhead box transcription factor Foxf1 in Patched-associated tumors. 54 61
19020777 2008
24
An overview of Bcl-2 expression in histopathological variants of basal cell carcinoma, squamous cell carcinoma, actinic keratosis and seborrheic keratosis. 61 54
19138009 2008
25
Prenatal manifestation in a family affected by nevoid basal cell carcinoma syndrome. 61 54
18539553 2008
26
Expression of the hair stem cell-specific marker nestin in epidermal and follicular tumors. 54 61
18693153 2008
27
Ultraviolet responses of Gorlin syndrome primary skin cells. 54 61
18510667 2008
28
Elastic fiber staining and cytokeratin 15 expression pattern in trichoepithelioma and basal cell carcinoma. 61 54
18789069 2008
29
A novel germ-line mutation of PTCH1 gene in a Japanese family of nevoid basal cell carcinoma syndrome: are the palmoplantar pits associated with true basal cell carcinoma? 61 54
18436435 2008
30
Nonsense-associated altered splicing of the Patched gene fails to suppress carcinogenesis in Gorlin syndrome. 54 61
18476955 2008
31
Comparative analysis of immunohistochemical markers with invasiveness and histologic differentiation in squamous cell carcinoma and basal cell carcinoma of the skin. 61 54
18404670 2008
32
Gli2 upregulates cFlip and renders basal cell carcinoma cells resistant to death ligand-mediated apoptosis. 61 54
18264131 2008
33
PTCH1 and SMO gene alterations in keratocystic odontogenic tumors. 61 54
18502968 2008
34
A missense mutation in PTCH2 underlies dominantly inherited NBCCS in a Chinese family. 61 54
18285427 2008
35
MC1R variants associated susceptibility to basal cell carcinoma of skin: interaction with host factors and XRCC3 polymorphism. 54 61
18067130 2008
36
Microcystic adnexal carcinoma: an immunohistochemical reappraisal. 61 54
18065959 2008
37
Does the panel of cytokeratin 20 and androgen receptor antibodies differentiate desmoplastic trichoepithelioma from morpheaform/infiltrative basal cell carcinoma? 61 54
18190441 2008
38
Coincident two mutations and one single nucleotide polymorphism of the PTCH1 gene in a family with naevoid basal cell carcinoma syndrome. 61 54
19002359 2008
39
A new mutation of PTCH gene in a Chinese family with nevoid basal cell carcinoma syndrome. 61 54
18272036 2008
40
High-density oligonucleotide array with sub-kilobase resolution reveals breakpoint information of submicroscopic deletions in nevoid basal cell carcinoma syndrome. 61 54
17703323 2007
41
Immunohistochemical comparison of beta-catenin expression by human normal epidermis and epidermal tumors. 61 54
17973813 2007
42
PTCH mutations are not mainly involved in the pathogenesis of sporadic trichoblastomas. 61 54
17597182 2007
43
Basal cell carcinoma with matrical differentiation: expression of beta-catenin [corrected] and osteopontin. 54 61
17890917 2007
44
Stromelysin-3 expression in the differential diagnosis of dermatofibroma and dermatofibrosarcoma protuberans: comparison with factor XIIIa and CD34. 61 54
17596171 2007
45
p53 codon 72 polymorphism, DNA damage and repair, and risk of non-melanoma skin cancer. 61 54
17403527 2007
46
Poor prognosis in breast carcinomas correlates with increased expression of targetable CD146 and c-Met and with proteomic basal-like phenotype. 54 61
17316758 2007
47
Primary cutaneous neuroendocrine cell carcinoma (Merkel cell carcinoma) with prominent microcystic features, mimicking eccrine carcinoma. 54 61
17448197 2007
48
Involvement of matrix metalloproteinase-13 in stromal-cell-derived factor 1 alpha-directed invasion of human basal cell carcinoma cells. 54 61
17099730 2007
49
Psoriasin (S100A7) is significantly up-regulated in human epithelial skin tumours. 61 54
17136347 2007
50
Identification of a novel mutation in the PTCH gene in a Korean family with naevoid basal cell carcinoma syndrome. 61 54
16780502 2007

Variations for Basal Cell Carcinoma

ClinVar genetic disease variations for Basal Cell Carcinoma:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SMO NM_005631.5(SMO):c.1417G>C (p.Asp473His) SNV Pathogenic 375938 rs17710891 GRCh37: 7:128849189-128849189
GRCh38: 7:129209348-129209348
2 PALB2 NM_024675.3(PALB2):c.1451T>A (p.Leu484Ter) SNV Pathogenic 187412 rs786203714 GRCh37: 16:23646416-23646416
GRCh38: 16:23635095-23635095
3 PTCH1 NM_000264.5(PTCH1):c.3836_3837del (p.Pro1279fs) Deletion Uncertain significance 560381 rs1564006281 GRCh37: 9:98209701-98209702
GRCh38: 9:95447419-95447420

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

Copy number variations for Basal Cell Carcinoma from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 256908 9 98205264 98279247 Mutation PTCH1 Basal cell carcinoma

Expression for Basal Cell Carcinoma

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

Pathways for Basal Cell Carcinoma

Pathways related to Basal Cell Carcinoma according to KEGG:

36
# Name Kegg Source Accession
1 Basal cell carcinoma hsa05217

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

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.68 TP53 SUFU SMO RASA1 PTCH2 PTCH1
2 12.75 TP53 SUFU SMO SHH PTCH2 PTCH1
3
Show member pathways
12.57 SUFU SMO PTCH2 PTCH1 GLI1
4
Show member pathways
12.49 SMO PTCH2 PTCH1 GLI2 GLI1
5
Show member pathways
12.47 SUFU SMO SHH PTCH1 GLI2 GLI1
6
Show member pathways
12.27 SMO SHH PTCH2 PTCH1
7 12.21 SUFU SHH PTCH2 PTCH1 GLI2 GLI1
8 12.19 TP53 SMO SHH PTCH1 CTNNB1
9 12.09 SMO SHH RASA1 PTCH1
10
Show member pathways
11.97 TP53 SUFU SMO SHH PTCH2 PTCH1
11 11.45 SUFU SMO SHH PTCH2 PTCH1 GLI2
12 11.42 SMO SHH PTCH1 GLI2 GLI1
13 11.38 SUFU SMO SHH PTCH1 GLI2 GLI1
14
Show member pathways
11.28 SMO SHH PTCH2 PTCH1 GLI2
15 11.15 SHH GLI2 GLI1
16 10.45 SHH PTCH1
17
Show member pathways
10.45 SUFU SMO SHH PTCH2 PTCH1 GLI2

GO Terms for Basal Cell Carcinoma

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

# Name GO ID Score Top Affiliating Genes
1 cilium GO:0005929 9.55 SUFU SMO PTCH1 GLI2 GLI1
2 ciliary base GO:0097546 9.13 SUFU GLI2 GLI1
3 ciliary tip GO:0097542 8.92 SUFU SMO GLI2 GLI1

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

(show top 50) (show all 73)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 10.22 TP53 SUFU SMO SHH PTCH1 GLI2
2 positive regulation of transcription, DNA-templated GO:0045893 10.16 TP53 SMO SHH PTCH1 GLI2 GLI1
3 positive regulation of cell proliferation GO:0008284 10.14 SMO SHH GLI2 GLI1 CTNNB1
4 positive regulation of gene expression GO:0010628 10.13 TP53 SMO SHH CTNNB1 CDKN2B-AS1
5 negative regulation of apoptotic process GO:0043066 10.1 TP53 SMO SHH RASA1 PALB2 GLI2
6 negative regulation of gene expression GO:0010629 10.08 TP53 SMO SHH CTNNB1 CDKN2B-AS1
7 heart development GO:0007507 10.03 TP53 SHH GLI2 CTNNB1
8 regulation of cell proliferation GO:0042127 10.02 TP53 SHH PTCH1 CTNNB1
9 kidney development GO:0001822 9.99 SHH GLI2 CTNNB1 BAX
10 in utero embryonic development GO:0001701 9.99 TP53 SMO PTCH1 PALB2 GLI2 CTNNB1
11 lung development GO:0030324 9.93 SHH GLI2 GLI1 CTNNB1
12 osteoblast differentiation GO:0001649 9.92 SMO GLI2 GLI1
13 multicellular organism growth GO:0035264 9.91 TP53 SMO PALB2
14 determination of left/right symmetry GO:0007368 9.9 SUFU SMO SHH
15 canonical Wnt signaling pathway GO:0060070 9.9 SHH GLI1 CTNNB1
16 heart looping GO:0001947 9.89 SUFU SMO SHH
17 positive regulation of neuron apoptotic process GO:0043525 9.89 TP53 CTNNB1 BAX
18 embryonic digit morphogenesis GO:0042733 9.88 SHH GLI2 CTNNB1
19 vasculogenesis GO:0001570 9.88 SMO SHH RASA1 CTNNB1
20 branching involved in ureteric bud morphogenesis GO:0001658 9.87 SHH PTCH1 CTNNB1
21 positive regulation of smoothened signaling pathway GO:0045880 9.86 SMO SHH GLI1
22 cell fate specification GO:0001708 9.85 SMO SHH CTNNB1
23 pattern specification process GO:0007389 9.85 SMO SHH PTCH1 GLI2
24 skin development GO:0043588 9.83 SUFU SHH PTCH2 CTNNB1
25 T cell differentiation in thymus GO:0033077 9.82 TP53 SHH CTNNB1
26 developmental growth GO:0048589 9.82 SMO SHH GLI2
27 proximal/distal pattern formation GO:0009954 9.81 GLI2 GLI1 CTNNB1
28 positive regulation of neuroblast proliferation GO:0002052 9.8 SMO SHH CTNNB1
29 positive regulation of mesenchymal cell proliferation GO:0002053 9.79 SMO SHH CTNNB1
30 spinal cord motor neuron differentiation GO:0021522 9.78 SHH PTCH1 GLI2
31 hair follicle morphogenesis GO:0031069 9.78 SMO SHH GLI2 CTNNB1
32 hindbrain development GO:0030902 9.77 SHH GLI2 CTNNB1
33 cell fate determination GO:0001709 9.77 PTCH2 PTCH1 CTNNB1
34 odontogenesis of dentin-containing tooth GO:0042475 9.77 SMO SHH GLI2 CTNNB1 BAX
35 somite development GO:0061053 9.76 SMO SHH PTCH1
36 negative regulation of smoothened signaling pathway GO:0045879 9.76 SUFU PTCH2 PTCH1 GLI2
37 regulation of osteoblast differentiation GO:0045667 9.75 GLI1 CTNNB1
38 digestive tract morphogenesis GO:0048546 9.74 SHH GLI1
39 thalamus development GO:0021794 9.74 SMO SHH
40 ectoderm development GO:0007398 9.74 SHH CTNNB1
41 commissural neuron axon guidance GO:0071679 9.74 SMO PTCH1
42 mammary gland epithelial cell differentiation GO:0060644 9.74 SMO PTCH1
43 prostate gland development GO:0030850 9.74 SHH PTCH1 GLI1
44 metanephric collecting duct development GO:0072205 9.73 SHH PTCH1
45 positive regulation of T cell differentiation in thymus GO:0033089 9.73 SHH GLI2
46 response to salt stress GO:0009651 9.73 TP53 BAX
47 positive regulation of skeletal muscle tissue development GO:0048643 9.72 SHH CTNNB1
48 embryonic foregut morphogenesis GO:0048617 9.72 SHH CTNNB1
49 positive regulation of epidermal cell differentiation GO:0045606 9.72 PTCH2 PTCH1
50 regulation of mitochondrial membrane permeability involved in apoptotic process GO:1902108 9.71 TP53 BAX

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

# Name GO ID Score Top Affiliating Genes
1 hedgehog family protein binding GO:0097108 9.26 PTCH2 PTCH1
2 hedgehog receptor activity GO:0008158 9.16 PTCH2 PTCH1
3 smoothened binding GO:0005119 8.96 PTCH2 PTCH1
4 patched binding GO:0005113 8.8 SMO SHH PTCH1

Sources for 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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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