MCID: SKN022
MIFTS: 54

Skin Squamous Cell Carcinoma

Categories: Cancer diseases, Skin diseases

Aliases & Classifications for Skin Squamous Cell Carcinoma

MalaCards integrated aliases for Skin Squamous Cell Carcinoma:

Name: Skin Squamous Cell Carcinoma 12 15
Squamous Cell Carcinoma of Skin 12 70
Squamous Cell Carcinoma of the Skin 6
Epidermoid Skin Carcinoma 12

Classifications:



External Ids:

Disease Ontology 12 DOID:3151
NCIt 50 C4819
SNOMED-CT 67 254651007
UMLS 70 C0553723

Summaries for Skin Squamous Cell Carcinoma

Disease Ontology : 12 A skin carcinoma that has material basis in squamous cells.

MalaCards based summary : Skin Squamous Cell Carcinoma, also known as squamous cell carcinoma of skin, is related to squamous cell carcinoma and exanthem. An important gene associated with Skin Squamous Cell Carcinoma is TP53 (Tumor Protein P53), and among its related pathways/superpathways are MAPK signaling pathway and Gastric cancer. The drugs Eflornithine and Ornithine have been mentioned in the context of this disorder. Affiliated tissues include skin, breast and kidney, and related phenotypes are Decreased cell migration and Decreased cell migration

Related Diseases for Skin Squamous Cell Carcinoma

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

(show top 50) (show all 278)
# Related Disease Score Top Affiliating Genes
1 squamous cell carcinoma 31.1 TP53 RAC1 HRAS ERBB2 CDKN2A BRAF
2 exanthem 30.7 IL10 IFNA1 HRAS ERBB2
3 in situ carcinoma 30.6 TP53 HRAS ERBB2 CDKN2A
4 squamous cell papilloma 30.5 TP53 HRAS CDKN2A
5 actinic keratosis 30.2 TP53 HRAS CDKN2A
6 suppressor of tumorigenicity 3 30.2 TP53 CDKN2A
7 pancreatic ductal carcinoma 30.1 TP53 KLF4 ERBB2 CDKN2A
8 adenocarcinoma 30.0 TP53 HRAS ERBB2 CDKN2A BRAF
9 lynch syndrome 29.8 TP53 HRAS CDKN2A BRAF
10 skin carcinoma 29.6 TP53 MIR154 LRRC56 IL10 IFNA1 HRAS
11 leukemia, chronic lymphocytic 29.4 TP53 MIR154 LRRC56 IL10 IFNA1 HRAS
12 leukemia, acute myeloid 29.2 TP53 MIR154 LRRC56 KLF4 IL10 IFNA1
13 glioblastoma 29.1 TP53 RAC1 LRRC56 HRAS ERBB2 CDKN2A
14 lung cancer susceptibility 3 29.1 TP53 LRRC56 HRAS ERBB2 CDKN2A BRAF
15 squamous cell carcinoma, head and neck 29.0 TP53 RAC1 LRRC56 HRAS FAT2 ERBB2
16 melanoma 28.5 TP53 STK19 RAC1 MIR154 LRRC56 IL10
17 palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal 11.9
18 acantholytic squamous cell skin carcinoma 11.5
19 clear cell squamous cell skin carcinoma 11.5
20 anal margin squamous cell carcinoma 11.3
21 pseudovascular skin squamous cell carcinoma 11.3
22 epidermodysplasia verruciformis 1 11.2
23 inverted follicular keratosis 10.4
24 lichen disease 10.4 TP53 IL10 IFNA1
25 vaginal disease 10.4 TP53 IL10 IFNA1
26 herpangina 10.4 TP53 IL10 IFNA1
27 pancreatic signet ring cell adenocarcinoma 10.4 TP53 HRAS
28 nevus of ota 10.4 TP53 BRAF
29 keratosis, seborrheic 10.4
30 adenoid squamous cell carcinoma 10.4
31 vulvar intraepithelial neoplasia 10.3 TP53 CDKN2A
32 esophagus verrucous carcinoma 10.3 TP53 CDKN2A
33 gastric papillary adenocarcinoma 10.3 TP53 ERBB2
34 bone giant cell sarcoma 10.3 TP53 HRAS
35 ovarian seromucinous carcinoma 10.3 TP53 CDKN2A
36 human papillomavirus infectious disease 10.3 TP53 CDKN2A
37 plexiform neurofibroma 10.3 TP53 RAC1 CDKN2A
38 merkel cell carcinoma 10.3
39 myeloid leukemia 10.3
40 bowenoid papulosis 10.3
41 anogenital venereal wart 10.3 TP53 IFNA1 CDKN2A
42 apocrine adenosis of breast 10.3 TP53 ERBB2
43 penile disease 10.3 TP53 IFNA1 CDKN2A
44 primary peritoneal carcinoma 10.3 TP53 IL10 ERBB2
45 autoimmune pancreatitis 10.3 IL10 IFNA1 HRAS
46 hyperpigmentation of the skin 10.3 TP53 STK19
47 trachea carcinoma in situ 10.3 HRAS CDKN2A
48 basal cell carcinoma 10.3
49 penile benign neoplasm 10.3 TP53 CDKN2A
50 parotid gland cancer 10.3 TP53 ERBB2

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



Diseases related to Skin Squamous Cell Carcinoma

Symptoms & Phenotypes for Skin Squamous Cell Carcinoma

GenomeRNAi Phenotypes related to Skin Squamous Cell Carcinoma according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased cell migration GR00055-A-1 8.92 RAC1
2 Decreased cell migration GR00055-A-3 8.92 BRAF HRAS RAC1

MGI Mouse Phenotypes related to Skin Squamous Cell Carcinoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.03 BRAF CDKN2A ERBB2 HHATL HRAS IGF2BP1
2 craniofacial MP:0005382 9.97 BRAF ERBB2 HRAS IGF2BP1 IL10 KLF4
3 digestive/alimentary MP:0005381 9.92 BRAF CDKN2A ERBB2 HRAS IGF2BP1 IL10
4 integument MP:0010771 9.81 BRAF CD151 CDKN2A ERBB2 HRAS IL10
5 muscle MP:0005369 9.61 BRAF CDKN2A ERBB2 HRAS IGF2BP1 IL10
6 neoplasm MP:0002006 9.28 BRAF CD151 CDKN2A ERBB2 HRAS IGF2BP1

Drugs & Therapeutics for Skin Squamous Cell Carcinoma

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

(show top 50) (show all 69)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Eflornithine Approved, Withdrawn Phase 3 70052-12-9 3009
2
Ornithine Approved, Nutraceutical Phase 3 70-26-8, 3184-13-2 6262
3 Antiparasitic Agents Phase 3
4 Antiprotozoal Agents Phase 3
5
Isotretinoin Approved Phase 2 4759-48-2 5282379 5538
6
Gefitinib Approved, Investigational Phase 2 184475-35-2 123631
7
Triamcinolone Approved, Vet_approved Phase 2 124-94-7 31307
8
Pioglitazone Approved, Investigational Phase 2 111025-46-8 4829
9
Pembrolizumab Approved Phase 2 1374853-91-4
10
Cemiplimab Approved, Investigational Phase 2 1801342-60-8
11
Atezolizumab Approved, Investigational Phase 2 1380723-44-3
12
Peginterferon alfa-2a Approved, Investigational Phase 2 198153-51-4 5360545
13
nivolumab Approved Phase 2 946414-94-4
14
Fluorouracil Approved Phase 2 51-21-8 3385
15
Peginterferon alfa-2b Approved Phase 2 99210-65-8, 215647-85-1
16
Capecitabine Approved, Investigational Phase 2 154361-50-9 60953
17
Tretinoin Approved, Investigational, Nutraceutical Phase 2 302-79-4 444795 5538
18
Tyrosine Approved, Investigational, Nutraceutical Phase 2 60-18-4 6057
19
Levulinic acid Experimental Phase 2 123-76-2 11579
20 Sunscreening Agents Phase 1, Phase 2
21 Protein Kinase Inhibitors Phase 2
22 Triamcinolone diacetate Phase 2
23 glucocorticoids Phase 2
24 Hormone Antagonists Phase 2
25 Hormones Phase 2
26 triamcinolone acetonide Phase 2
27 Triamcinolone hexacetonide Phase 2
28 Angiogenesis Inhibitors Phase 2
29 Semaxinib Phase 2
30
Erlotinib Hydrochloride Phase 2 183319-69-9 176871
31 Hypoglycemic Agents Phase 2
32 Immunosuppressive Agents Phase 2
33 Anti-Infective Agents Phase 2
34 Antiviral Agents Phase 2
35 Immunologic Factors Phase 2
36 interferons Phase 2
37 Interferon-alpha Phase 2
38 Interferon alpha-2 Phase 2
39 Antineoplastic Agents, Immunological Phase 2
40 Tea Phase 2
41 Antimetabolites Phase 2
42
Panitumumab Approved, Investigational Phase 1 339177-26-3 50070211
43
Talimogene laherparepvec Approved, Experimental, Investigational Phase 1 1187560-31-1
44
Silicon Approved, Investigational Phase 1 7440-21-3 4082203
45 Trace Elements Phase 1
46 Nutrients Phase 1
47 Silicon phthalocyanine Phase 1
48 Antimalarials Phase 1
49 Micronutrients Phase 1
50
Acitretin Approved 55079-83-9 6437841 5284513

Interventional clinical trials:

(show all 42)
# Name Status NCT ID Phase Drugs
1 A Randomized Controlled Trial Of CHARTWEL (a Continuous Hyperfractionated Accelerated Radiotherapy Schedule) Versus Conventional Radiotherapy In Post-Operative Head And Neck Cancer Patients Completed NCT00021125 Phase 3
2 Chemoprevention of Skin Cancers With DFMO: A Controlled, Randomized Clinical Trial Completed NCT00005884 Phase 3 eflornithine
3 Incidence of Squamous Cell Carcinoma and Other Skin Neoplasia in Subjects With Actinic Keratosis Treated With Ingenol Disoxate Gel 0.018% or 0.037%, or Vehicle Gel Terminated NCT03115476 Phase 3 ingenol disoxate gel 0.018%;ingenol disoxate gel 0.037%
4 A Phase I/II Pilot Study of Bioimmunotherapy With IRESSA (Gefitinib) and Pegylated Interferon Alpha-2a for Patients With Unresectable/Metastatic Squamous Cell Carcinoma of the Skin Unknown status NCT00423397 Phase 1, Phase 2 gefitinib
5 Skin Cancer Prophylaxis by Low-Fat Dietary Intervention Unknown status NCT00003097 Phase 2
6 Investigation of a Behavioral Substitute for Sunbathing Completed NCT00403377 Phase 1, Phase 2
7 ALPHA INTERFERON AND CIS-RETINOIC ACID FOR THE TREATMENT OF SQUAMOUS CELL CARCINOMAS Completed NCT00002506 Phase 2 isotretinoin
8 A Phase II Study of ZD1839 and Radiation in Patients With Squamous Cell Carcinoma of the Skin Completed NCT00126555 Phase 2 Gefitinib
9 Phase IIB Randomized, Double-Blinded, Placebo Controlled Study to Evaluate the Safety and Efficacy of Topical Difluoromethylornithine (DFMO) With and Without a Topical Corticosteroid Cream (Triamcinolone 0.1%) in the Therapy of Actinic Keratoses (AK) on the Forearms Completed NCT00021294 Phase 2 eflornithine;triamcinolone
10 A Phase II Trial of SU5416 (NSC #696819) in Patients With Advanced or Recurrent Squamous Cell Carcinoma of the Head and Neck Completed NCT00006361 Phase 2 semaxanib
11 A Phase II Trial of 4-5 Hour and 18-24 Hour Applications of 20% Topical ALA for Photodynamic Therapy of Cutaneous Carcinomas and Actinic Keratoses Completed NCT00002975 Phase 2 aminolevulinic acid
12 Cutaneous Absorption and Intralesional Penetration of Topical Amino-Levulinic Acid in Basal Cell Carcinoma and Squamous Cell Carcinoma as Measured by In Situ Fluorescence and Intensified Video Fluorescence Microscopy Completed NCT00002963 Phase 2 aminolevulinic acid hydrochloride
13 Phase II Study of Erlotinib, An Epidermal Growth Factor Receptor (EGFR) Tyrosine Kinase Inhibitor, in the Treatment of Recurrent or Metastatic Squamous Cell Carcinoma of the Skin Completed NCT01198028 Phase 2 Erlotinib
14 Chemoprevention of Squamous Cell Cancer of the Skin in High Risk Patients Completed NCT02347813 Phase 2 Pioglitazone
15 Phase II Study of Cetuximab as Monotherapy and First Line Treatment in Patients With Locally Advanced or Metastatic Squamous Cell Carcinoma of the Skin Expressing EGFR. Completed NCT00240682 Phase 2 cetuximab
16 A Phase II Study of ZD1839 (Iressa), Epidermal Growth Factor Receptor (EGFR) Tyrosine Kinase Inhibitor, in Treatment of Recurrent or Metastatic Squamous Cell Carcinoma of the Skin Completed NCT00054691 Phase 2 Iressa
17 Phase II Study of Pembrolizumab (MK-3475) as First Line Single Drug Therapy in Patients With Unresectable Squamous Cell Carcinoma of the Skin Completed NCT02883556 Phase 2 Pembrolizumab
18 Phase II Randomized Trial of Avelumab Plus Cetuximab Versus Avelumab Alone in Advanced Cutaneous Squamous Cell Carcinoma of the Skin (cSCC) Recruiting NCT03944941 Phase 2 Avelumab;Cetuximab
19 UNresectable Squamous Cell Carcinoma Treated With Avelumab and Radical Radiotherapy. A Study to Evaluate the Efficacy and Safety of the Combined Use of Avelumab With Radiation Therapy for the Treatment of Unresectable Cutaneous Squamous Cell Carcinoma Recruiting NCT03737721 Phase 2
20 A Phase II, Open-Label, Single-Arm, Multi-Cohort, Proof-of-Principle Study to Investigate the Efficacy of Cobimetinib and Atezolizumab in Advanced Rare Tumors Recruiting NCT03108131 Phase 2 Atezolizumab;Cobimetinib
21 Evaluating the PD-1 Checkpoint Inhibitor, Cemiplimab, as Neoadjuvant Therapy in High Risk Localized, Locally Recurrent, and Regionally Advanced Cutaneous Squamous Cell Carcinoma: A Phase II Pilot Study Recruiting NCT04315701 Phase 2
22 Phase II Study of Nivolumab in Patients With Locally Advanced/ Metastatic Squamous Cell Carcinoma of the Skin Active, not recruiting NCT04204837 Phase 2 Nivolumab
23 A Phase 2 Study of Capecitabine or 5-FU With Pegylated Interferon Alpha-2b in Unresectable/Metastatic Cutaneous Squamous Cell Carcinoma Active, not recruiting NCT02218164 Phase 2 Pegylated Interferon alpha-2b;Capecitabine;5-FU
24 A Randomized, Double-Blind, Placebo-Controlled Phase II Clinical Trial of Polyphenon E Against Various Endpoints of Actinic Keratosis Pathobiology Terminated NCT00005097 Phase 2 Polyphenon E and Placebo
25 A Phase 2 Study of Capecitabine in Patients With Advanced or Recurrent Squamous Cell Carcinoma of the Skin Terminated NCT01823679 Phase 2 Capecitabine
26 A Phase II, Double-Blind, Placebo-Controlled Clinical Trial To Assess Celecoxib As A Chemopreventive Agent Inhibiting UV-Induced Erythema And Cutaneous Carcinogenesis As Assessed Through Surrogate Biological Markers In Biopsied Skin After Exposure Of Skin In Normal Volunteers Ages 20-60 Years Old With Fitzpatrick Type I, II, III And IV Skin To UV-Radiation From Artificial Light Sources Withdrawn NCT00025051 Phase 2 celecoxib
27 Development of an Electrical Diagnostic for Melanoma and Other Cutaneous Malignancies Unknown status NCT00391300 Phase 1
28 Phase I Clinical Trial Using Topical Silicon Phthalocyanine (Pc 4) Photodynamic Therapy (PDT) for the Treatment of Pre-Malignant and Malignant Skin Conditions Completed NCT00103246 Phase 1 silicon phthalocyanine 4
29 A Phase 1 Study of Talimogene Laherparepvec and Panitumumab in Patients With Locally Advanced Squamous Cell Carcinoma of the Skin (SCCS) Recruiting NCT04163952 Phase 1
30 Phase I Study of Intratumoral CV8102 in Patients With Advanced Melanoma, Squamous Cell Carcinoma of the Skin, Squamous Cell Carcinoma of the Head and Neck, or Adenoid Cystic Carcinoma Recruiting NCT03291002 Phase 1
31 Pilot Study of Neoadjuvant/Adjuvant Cemiplimab for High Risk Cutaneous Squamous Cell Carcinoma Recruiting NCT04428671 Phase 1
32 Phase I Trial of PC 4-PDT (NSC 676418) for Cutaneous Malignancies Terminated NCT00023790 Phase 1 silicon phthalocyanine 4
33 Prospektive Therapie-Studie Zur Behandlung Des Desmoplastischen Plattenepithelkarzinoms Unknown status NCT02717936
34 Transcriptional Profiling of the Epidermal Response to Solar-Simulated Ultraviolet Radiation Completed NCT00099112
35 Chemoprevention Trial of Acitretin Versus Placebo in Solid Organ Transplant Recipients With Multiple Prior Treated Skin Cancers Completed NCT00003611 acitretin
36 Use Of Isotretinion For Prevention Of Skin Cancer In Patients With Xeroderma Pigmentosum Or Nevoid Basal Cell Carcinoma Syndrome Completed NCT00025012 isotretinoin
37 Chemoprevention Trial of Acitretin Versus Placebo in Patients at High Risk for Basal Cell Carcinoma or Squamous Cell Carcinoma Completed NCT00644384 acitretin
38 Study of The Examination of Sentinel Lymph Nodes for OX-40 Expression in Patients With Cancer Completed NCT00900302
39 Spanish Registry of Mohs Surgery [Registro Español de Cirugía de Mohs] Completed NCT02310503
40 A Safety and Effectiveness Study of Intratumoral Diffusing Alpha Radiation Emitters on Squamous Cell Carcinoma Completed NCT03353077
41 A Pilot Study of Neoadjuvant Cetuximab in Advanced Squamous Cell Carcinomas of Skin (SCCS) Active, not recruiting NCT02324608
42 Evaluation of Protoporphyrin Formation in Non-Melanoma Skin Cancers After Topical Application of 5-Aminolevulinic Acid: A Pilot Study Terminated NCT00663910 Early Phase 1 Aminolevulinic Acid

Search NIH Clinical Center for Skin Squamous Cell Carcinoma

Genetic Tests for Skin Squamous Cell Carcinoma

Anatomical Context for Skin Squamous Cell Carcinoma

MalaCards organs/tissues related to Skin Squamous Cell Carcinoma:

40
Skin, Breast, Kidney, Lung, Bone Marrow, Bone, Lymph Node

Publications for Skin Squamous Cell Carcinoma

Articles related to Skin Squamous Cell Carcinoma:

(show top 50) (show all 324)
# Title Authors PMID Year
1
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 6
26619011 2016
2
Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 6
25157968 2014
3
Mutational analysis of cutaneous squamous cell carcinomas and verrucal keratosis in patients taking BRAF inhibitors. 6
22726224 2012
4
RAS mutations in cutaneous squamous-cell carcinomas in patients treated with BRAF inhibitors. 6
22256804 2012
5
Relevance of Intraparotid Metastases in Head and Neck Skin Squamous Cell Carcinoma. 61
32918494 2021
6
Prevention of skin carcinogenesis by the non-β-blocking R-carvedilol enantiomer. 61
33648941 2021
7
A Collision Tumor with Squamous Cell Carcinoma of Skin Overlying Breast and Invasive Breast Carcinoma. 61
33645196 2021
8
Synthesis of diosgenyl quaternary ammonium derivatives and their antitumor activity. 61
33285175 2021
9
Melittin sensitizes skin squamous carcinoma cells to 5-fluorouracil by affecting cell proliferation and survival. 61
33523510 2021
10
Fat1 deletion promotes hybrid EMT state, tumour stemness and metastasis. 61
33328637 2021
11
Unusual collision tumor with infiltrating ductal carcinoma and breast skin squamous cell carcinoma: A case report and literature review. 61
33360037 2021
12
SphK1-targeted miR-6784 inhibits functions of skin squamous cell carcinoma cells. 61
33465049 2021
13
Immunohistochemical expression of Tazarotene-induced Gene 3 in oral squamous cell carcinoma. 61
33259689 2020
14
Clinical value of high-resolution dynamic contrast-enhanced (DCE) MRI in diagnosis of cutaneous squamous cell carcinoma. 61
33141995 2020
15
Expression and clinical value of miR-27a in serum of patients with skin squamous cell carcinoma. 61
33277877 2020
16
NK Cell and Fibroblast-Mediated Regulation of Skin Squamous Cell Carcinoma Invasion by CLEC2A Is Compromised in Xeroderma Pigmentosum. 61
32061658 2020
17
Epithelial sheath neuroma: A case report and literature review. 61
32383640 2020
18
De Novo Malignancy After Living Donor Liver Transplantation: A Large Volume Experience. 61
33029053 2020
19
Clinical significance of ring finger protein 2 high expression in skin squamous cell carcinoma. 61
32724350 2020
20
Synchronous Primary Pancreatic Ductal Carcinoma and Colonic Adenocarcinoma Present in a Patient With History of Skin Squamous Cell Carcinoma. 61
32620648 2020
21
Resveratrol inhibits skin squamous cell carcinoma proliferation, migration and invasion through up-regulating miR-126. 61
33040828 2020
22
Exogenous delivery of microRNA-134 (miR-134) using α-tocopherol-based PEGylated liposome for effective treatment in skin squamous cell carcinoma. 61
32572699 2020
23
I-BET726 suppresses human skin squamous cell carcinoma cell growth in vitro and in vivo. 61
32371868 2020
24
Significance of desmoglein-2 on cell malignant behaviors via mediating MAPK signaling in cervical cancer. 61
31930774 2020
25
Galectin-3 regulates UVB-induced inflammation in skin. 61
32312639 2020
26
Missense PALB2 germline variant disrupts nuclear localization of PALB2 in a patient with breast cancer. 61
32048105 2020
27
Prevalence of cancers diagnosed in Jamhuriyat Hospital, Kabul, Afghanistan. 61
32258464 2020
28
Photodynamic therapy for squamous cell carcinoma of the index finger: A case report. 61
31945547 2020
29
Prognostic significance of low expression of B-cell translocation gene 1 (BTG 1) in skin squamous cell carcinoma. 61
32457282 2020
30
High expression of CD34 and α6-integrin contributes to the cancer-initiating cell behaviour in ultraviolet-induced mouse skin squamous cell carcinoma. 61
33123267 2020
31
SASH1 Suppresses the Proliferation and Invasion of Human Skin Squamous Cell Carcinoma Cells via Inhibiting Akt Cascade. 61
32547092 2020
32
Incidence Differences Between First Primary Cancers and Second Primary Cancers Following Skin Squamous Cell Carcinoma as Etiological Clues. 61
32821171 2020
33
Intraoperative Surgical Margin Clearance - Correlation of Touch Imprint Cytology, Frozen Section Diagnosis, and Histopathological Diagnosis. 61
32002379 2020
34
[Development of skin squamous cell carcinoma on the scalp in a hydroxycarbamide-treated polycythemia vera patient]. 61
33441519 2020
35
Computational Modeling on Aquaporin-3 as Skin Cancer Target: A Virtual Screening Study. 61
32351935 2020
36
Inference of Intercellular Communications and Multilayer Gene-Regulations of Epithelial-Mesenchymal Transition From Single-Cell Transcriptomic Data. 61
33488673 2020
37
Cancer Risk in Klippel-Trenaunay Syndrome. 61
31045469 2019
38
Context-dependent effect of sPLA2-IIA induced proliferation on murine hair follicle stem cells and human epithelial cancer. 61
31521610 2019
39
Loss of Rab25 promotes the development of skin squamous cell carcinoma through the dysregulation of integrin trafficking. 61
31144312 2019
40
Relationship Between Level of Serum 25-Hydroxyvitamin D and Risk of Squamous Cell Carcinoma in an Iranian Population. 61
31723461 2019
41
Transdermal delivery of small interfering RNAs with topically applied mesoporous silica nanoparticles for facile skin cancer treatment. 61
31506653 2019
42
CSL controls telomere maintenance and genome stability in human dermal fibroblasts. 61
31467287 2019
43
A Constitutional Activating MET Mutation Makes the Genetic Link between Malignancies and Chronic Inflammatory Diseases. 61
31004003 2019
44
Primary Extracranial Meningioma of Mastoid in a Patient With History of Skin Squamous Cell Carcinoma, Lung Adenocarcinoma and Prostatic Carcinoma. 61
31177167 2019
45
Squamous cell carcinoma of skin due to prolonged indwelling percutaneous nephrostomy catheter. 61
31129641 2019
46
Investigation on the Cancer Invasion and Metastasis of Skin Squamous Cell Carcinoma by Raman Spectroscopy. 61
31151168 2019
47
Silencing of EPHB2 promotes the epithelial-mesenchymal transition of skin squamous cell carcinoma-derived A431 cells. 61
30881495 2019
48
PD-L1 Expression in Unresectable Locally Advanced or Metastatic Skin Squamous Cell Carcinoma Treated with Anti-Epidermal Growth Factor Receptor Agents. 61
31112973 2019
49
A panel of biomarkers for skin squamous cell carcinoma: various functional entities and differential responses to resveratrol. 61
31933951 2019
50
Effect of Doxorubicin on Squamous Cell Carcinoma of Skin: Assessment by MRI Relaxometry at 4.7T. 61
31412717 2019

Variations for Skin Squamous Cell Carcinoma

ClinVar genetic disease variations for Skin Squamous Cell Carcinoma:

6 (show top 50) (show all 107)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KNSTRN NM_033286.3(KNSTRN):c.71C>T (p.Ser24Phe) SNV Likely pathogenic 376441 rs868438023 GRCh37: 15:40675107-40675107
GRCh38: 15:40382906-40382906
2 CRNKL1 NM_001278626.1(CRNKL1):c.-319+36C>T SNV Likely pathogenic 376389 rs1057519885 GRCh37: 20:20033087-20033087
GRCh38: 20:20052443-20052443
3 STK19 NM_004197.1(STK19):c.265G>A (p.Asp89Asn) SNV Likely pathogenic 76320 rs267600971 GRCh37: 6:31940123-31940123
GRCh38: 6:31972346-31972346
4 BCL2L12 NM_001197125.1(IRF3):c.-518G>A SNV Likely pathogenic 376373 rs1057519880 GRCh37: 19:50169132-50169132
GRCh38: 19:49665875-49665875
5 CDKN2A NM_058197.4(CDKN2A):c.*264C>A SNV Likely pathogenic 376383 rs121913386 GRCh37: 9:21971017-21971017
GRCh38: 9:21971018-21971018
6 CDKN2A NM_000077.4(CDKN2A):c.149A>G (p.Gln50Arg) SNV Likely pathogenic 232304 rs587778189 GRCh37: 9:21974678-21974678
GRCh38: 9:21974679-21974679
7 CDKN2A NM_058197.4(CDKN2A):c.*263C>A SNV Likely pathogenic 376382 rs104894104 GRCh37: 9:21971018-21971018
GRCh38: 9:21971019-21971019
8 RAC1 NM_006908.5(RAC1):c.86C>T (p.Pro29Leu) SNV Likely pathogenic 376512 rs1057519948 GRCh37: 7:6426893-6426893
GRCh38: 7:6387262-6387262
9 CDKN2A NM_058195.3(CDKN2A):c.194-3470G>T SNV Likely pathogenic 376384 rs1057519882 GRCh37: 9:21974677-21974677
GRCh38: 9:21974678-21974678
10 RAC1 NM_006908.5(RAC1):c.85C>T (p.Pro29Ser) SNV Likely pathogenic 376362 rs1057519874 GRCh37: 7:6426892-6426892
GRCh38: 7:6387261-6387261
11 CDKN2A NM_000077.4(CDKN2A):c.341C>T (p.Pro114Leu) SNV Likely pathogenic 77637 rs121913386 GRCh37: 9:21971017-21971017
GRCh38: 9:21971018-21971018
12 RAC1 NM_006908.5(RAC1):c.85C>A (p.Pro29Thr) SNV Likely pathogenic 376513 rs1057519874 GRCh37: 7:6426892-6426892
GRCh38: 7:6387261-6387261
13 TP53 NM_000546.5(TP53):c.722C>T (p.Ser241Phe) SNV Likely pathogenic 12359 rs28934573 GRCh37: 17:7577559-7577559
GRCh38: 17:7674241-7674241
14 TP53 NM_000546.5(TP53):c.647T>A (p.Val216Glu) SNV Likely pathogenic 376672 rs1057520004 GRCh37: 17:7578202-7578202
GRCh38: 17:7674884-7674884
15 TP53 NM_000546.6(TP53):c.845G>C (p.Arg282Pro) SNV Likely pathogenic 376659 rs730882008 GRCh37: 17:7577093-7577093
GRCh38: 17:7673775-7673775
16 TP53 NM_000546.5(TP53):c.535C>T (p.His179Tyr) SNV Likely pathogenic 127815 rs587780070 GRCh37: 17:7578395-7578395
GRCh38: 17:7675077-7675077
17 TP53 NM_000546.6(TP53):c.841G>C SNV Likely pathogenic 376588 rs764146326 GRCh37: 17:7577097-7577097
GRCh38: 17:7673779-7673779
18 TP53 NM_000546.5(TP53):c.638G>C (p.Arg213Pro) SNV Likely pathogenic 231214 rs587778720 GRCh37: 17:7578211-7578211
GRCh38: 17:7674893-7674893
19 TP53 NM_000546.6(TP53):c.638G>A (p.Arg213Gln) SNV Likely pathogenic 135359 rs587778720 GRCh37: 17:7578211-7578211
GRCh38: 17:7674893-7674893
20 TP53 NM_000546.5(TP53):c.537T>G (p.His179Gln) SNV Likely pathogenic 376607 rs876660821 GRCh37: 17:7578393-7578393
GRCh38: 17:7675075-7675075
21 TP53 NM_000546.5(TP53):c.746G>A (p.Arg249Lys) SNV Likely pathogenic 142241 rs587782329 GRCh37: 17:7577535-7577535
GRCh38: 17:7674217-7674217
22 HRAS , LRRC56 NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) SNV Likely pathogenic 12613 rs104894229 GRCh37: 11:534289-534289
GRCh38: 11:534289-534289
23 TP53 NM_000546.5(TP53):c.845G>A (p.Arg282Gln) SNV Likely pathogenic 237956 rs730882008 GRCh37: 17:7577093-7577093
GRCh38: 17:7673775-7673775
24 BRAF NM_004333.6(BRAF):c.1405G>C (p.Gly469Arg) SNV Likely pathogenic 13970 rs121913357 GRCh37: 7:140481403-140481403
GRCh38: 7:140781603-140781603
25 BRAF NM_001374258.1(BRAF):c.1526G>C (p.Gly509Ala) SNV Likely pathogenic 13971 rs121913355 GRCh37: 7:140481402-140481402
GRCh38: 7:140781602-140781602
26 TP53 NM_000546.5(TP53):c.843C>G (p.Asp281Glu) SNV Likely pathogenic 376587 rs1057519984 GRCh37: 17:7577095-7577095
GRCh38: 17:7673777-7673777
27 TP53 NM_000546.6(TP53):c.797G>A (p.Gly266Glu) SNV Likely pathogenic 161516 rs193920774 GRCh37: 17:7577141-7577141
GRCh38: 17:7673823-7673823
28 TP53 NM_000546.5(TP53):c.374C>G (p.Thr125Arg) SNV Likely pathogenic 376667 rs786201057 GRCh37: 17:7579313-7579313
GRCh38: 17:7675995-7675995
29 TP53 NM_000546.6(TP53):c.844C>T (p.Arg282Trp) SNV Likely pathogenic 12364 rs28934574 GRCh37: 17:7577094-7577094
GRCh38: 17:7673776-7673776
30 TP53 NM_000546.5(TP53):c.535C>A (p.His179Asn) SNV Likely pathogenic 376609 rs587780070 GRCh37: 17:7578395-7578395
GRCh38: 17:7675077-7675077
31 TP53 NM_000546.5(TP53):c.722C>A (p.Ser241Tyr) SNV Likely pathogenic 376663 rs28934573 GRCh37: 17:7577559-7577559
GRCh38: 17:7674241-7674241
32 TP53 NM_000546.5(TP53):c.808T>G (p.Phe270Val) SNV Likely pathogenic 376598 rs1057519988 GRCh37: 17:7577130-7577130
GRCh38: 17:7673812-7673812
33 TP53 NM_000546.5(TP53):c.587G>C (p.Arg196Pro) SNV Likely pathogenic 231165 rs483352697 GRCh37: 17:7578262-7578262
GRCh38: 17:7674944-7674944
34 TP53 NM_000546.5(TP53):c.646G>A (p.Val216Met) SNV Likely pathogenic 182965 rs730882025 GRCh37: 17:7578203-7578203
GRCh38: 17:7674885-7674885
35 TP53 NM_000546.5(TP53):c.814G>A (p.Val272Met) SNV Likely pathogenic 185814 rs121912657 GRCh37: 17:7577124-7577124
GRCh38: 17:7673806-7673806
36 TP53 NM_000546.5(TP53):c.833C>G (p.Pro278Arg) SNV Likely pathogenic 376644 rs876659802 GRCh37: 17:7577105-7577105
GRCh38: 17:7673787-7673787
37 CDKN2A NM_000077.4(CDKN2A):c.248A>G (p.His83Arg) SNV Likely pathogenic 376379 rs1057519881 GRCh37: 9:21971110-21971110
GRCh38: 9:21971111-21971111
38 TP53 NM_000546.5(TP53):c.814G>T (p.Val272Leu) SNV Likely pathogenic 12358 rs121912657 GRCh37: 17:7577124-7577124
GRCh38: 17:7673806-7673806
39 TP53 NM_000546.5(TP53):c.797G>T (p.Gly266Val) SNV Likely pathogenic 233303 rs193920774 GRCh37: 17:7577141-7577141
GRCh38: 17:7673823-7673823
40 TP53 NM_000546.5(TP53):c.842A>C (p.Asp281Ala) SNV Likely pathogenic 376589 rs587781525 GRCh37: 17:7577096-7577096
GRCh38: 17:7673778-7673778
41 TP53 NM_000546.5(TP53):c.706T>G (p.Tyr236Asp) SNV Likely pathogenic 142183 rs587782289 GRCh37: 17:7577575-7577575
GRCh38: 17:7674257-7674257
42 TP53 NM_000546.5(TP53):c.842A>T (p.Asp281Val) SNV Likely pathogenic 182968 rs587781525 GRCh37: 17:7577096-7577096
GRCh38: 17:7673778-7673778
43 TP53 NM_000546.5(TP53):c.841G>A (p.Asp281Asn) SNV Likely pathogenic 376586 rs764146326 GRCh37: 17:7577097-7577097
GRCh38: 17:7673779-7673779
44 TP53 NM_000546.5(TP53):c.721T>C (p.Ser241Pro) SNV Likely pathogenic 376664 rs1057520002 GRCh37: 17:7577560-7577560
GRCh38: 17:7674242-7674242
45 TP53 NM_000546.5(TP53):c.839G>C (p.Arg280Thr) SNV Likely pathogenic 12368 rs121912660 GRCh37: 17:7577099-7577099
GRCh38: 17:7673781-7673781
46 HRAS , LRRC56 NM_005343.4(HRAS):c.37G>A (p.Gly13Ser) SNV Likely pathogenic 376323 rs104894228 GRCh37: 11:534286-534286
GRCh38: 11:534286-534286
47 TP53 NM_000546.5(TP53):c.838A>G (p.Arg280Gly) SNV Likely pathogenic 376658 rs753660142 GRCh37: 17:7577100-7577100
GRCh38: 17:7673782-7673782
48 TP53 NM_000546.5(TP53):c.535C>G (p.His179Asp) SNV Likely pathogenic 376610 rs587780070 GRCh37: 17:7578395-7578395
GRCh38: 17:7675077-7675077
49 TP53 NM_000546.5(TP53):c.796G>C (p.Gly266Arg) SNV Likely pathogenic 376605 rs1057519990 GRCh37: 17:7577142-7577142
GRCh38: 17:7673824-7673824
50 TP53 NM_000546.5(TP53):c.809T>G (p.Phe270Cys) SNV Likely pathogenic 376597 rs1057519986 GRCh37: 17:7577129-7577129
GRCh38: 17:7673811-7673811

Cosmic variations for Skin Squamous Cell Carcinoma:

9 (show top 50) (show all 15557)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM108405939 ZNF668 skin,NS,carcinoma,squamous cell carcinoma c.316C>T p.P106S 16:31064213-31064213 15
2 COSM131595377 ZNF668 skin,NS,carcinoma,squamous cell carcinoma c.947C>T p.S316L 16:31062050-31062050 15
3 COSM101742625 ZNF668 skin,NS,carcinoma,squamous cell carcinoma c.878C>T p.S293L 16:31062050-31062050 15
4 COSM131595368 ZNF668 skin,NS,carcinoma,squamous cell carcinoma c.1886C>T p.P629L 16:31061111-31061111 15
5 COSM87498632 ZNF668 skin,NS,carcinoma,squamous cell carcinoma c.247C>T p.P83S 16:31064213-31064213 15
6 COSM101742795 ZNF668 skin,NS,carcinoma,squamous cell carcinoma c.247C>T p.P83S 16:31064213-31064213 15
7 COSM133260761 ZNF668 skin,NS,carcinoma,squamous cell carcinoma c.878C>T p.S293L 16:31062050-31062050 15
8 COSM132355968 ZNF668 skin,NS,carcinoma,squamous cell carcinoma c.1817C>T p.P606L 16:31061111-31061111 15
9 COSM132355981 ZNF668 skin,NS,carcinoma,squamous cell carcinoma c.878C>T p.S293L 16:31062050-31062050 15
10 COSM131595526 ZNF668 skin,NS,carcinoma,squamous cell carcinoma c.316C>T p.P106S 16:31064213-31064213 15
11 COSM87498178 ZNF668 skin,NS,carcinoma,squamous cell carcinoma c.1817C>T p.P606L 16:31061111-31061111 15
12 COSM101742614 ZNF668 skin,NS,carcinoma,squamous cell carcinoma c.1817C>T p.P606L 16:31061111-31061111 15
13 COSM133260750 ZNF668 skin,NS,carcinoma,squamous cell carcinoma c.1817C>T p.P606L 16:31061111-31061111 15
14 COSM133260941 ZNF668 skin,NS,carcinoma,squamous cell carcinoma c.247C>T p.P83S 16:31064213-31064213 15
15 COSM108405783 ZNF668 skin,NS,carcinoma,squamous cell carcinoma c.1886C>T p.P629L 16:31061111-31061111 15
16 COSM108405799 ZNF668 skin,NS,carcinoma,squamous cell carcinoma c.947C>T p.S316L 16:31062050-31062050 15
17 COSM132356152 ZNF668 skin,NS,carcinoma,squamous cell carcinoma c.247C>T p.P83S 16:31064213-31064213 15
18 COSM87498195 ZNF668 skin,NS,carcinoma,squamous cell carcinoma c.878C>T p.S293L 16:31062050-31062050 15
19 COSM101590418 ZMYM2 skin,NS,carcinoma,squamous cell carcinoma c.946C>T p.Q316* 13:20002948-20002948 15
20 COSM143109510 ZMYM2 skin,NS,carcinoma,squamous cell carcinoma c.946C>T p.Q316* 13:20002948-20002948 15
21 COSM101612017 ZMYM2 skin,NS,carcinoma,squamous cell carcinoma c.946C>T p.Q316* 13:20002948-20002948 15
22 COSM107139107 ZIC4 skin,NS,carcinoma,squamous cell carcinoma c.683A>C p.K228T 3:147395971-147395971 15
23 COSM101870708 ZIC4 skin,NS,carcinoma,squamous cell carcinoma c.522C>T p.F174= 3:147396018-147396018 15
24 COSM129142467 ZIC4 skin,NS,carcinoma,squamous cell carcinoma c.672C>T p.F224= 3:147396018-147396018 15
25 COSM118697764 ZIC4 skin,NS,carcinoma,squamous cell carcinoma c.71-4725A>C p.? 3:147395971-147395971 15
26 COSM115494047 ZIC4 skin,NS,carcinoma,squamous cell carcinoma c.569A>C p.K190T 3:147395971-147395971 15
27 COSM118700792 ZIC4 skin,NS,carcinoma,squamous cell carcinoma c.71-4772C>T p.? 3:147396018-147396018 15
28 COSM115497576 ZIC4 skin,NS,carcinoma,squamous cell carcinoma c.282C>G p.A94= 3:147396258-147396258 15
29 COSM129137619 ZIC4 skin,NS,carcinoma,squamous cell carcinoma c.135G>A p.K45= 3:147403964-147403964 15
30 COSM129143394 ZIC4 skin,NS,carcinoma,squamous cell carcinoma c.1026G>C p.P342= 3:147391059-147391059 15
31 COSM115492982 ZIC4 skin,NS,carcinoma,squamous cell carcinoma c.-15-1152G>A p.? 3:147403964-147403964 15
32 COSM107143716 ZIC4 skin,NS,carcinoma,squamous cell carcinoma c.396C>G p.A132= 3:147396258-147396258 15
33 COSM129143406 ZIC4 skin,NS,carcinoma,squamous cell carcinoma c.432C>G p.A144= 3:147396258-147396258 15
34 COSM101872056 ZIC4 skin,NS,carcinoma,squamous cell carcinoma c.282C>G p.A94= 3:147396258-147396258 15
35 COSM120258678 ZIC4 skin,NS,carcinoma,squamous cell carcinoma c.-16G>A p.? 3:147403964-147403964 15
36 COSM101866693 ZIC4 skin,NS,carcinoma,squamous cell carcinoma c.569A>C p.K190T 3:147395971-147395971 15
37 COSM101864973 ZIC4 skin,NS,carcinoma,squamous cell carcinoma c.-15-1152G>A p.? 3:147403964-147403964 15
38 COSM115497565 ZIC4 skin,NS,carcinoma,squamous cell carcinoma c.876G>C p.P292= 3:147391059-147391059 15
39 COSM120264120 ZIC4 skin,NS,carcinoma,squamous cell carcinoma c.876G>C p.P292= 3:147391059-147391059 15
40 COSM107142798 ZIC4 skin,NS,carcinoma,squamous cell carcinoma c.636C>T p.F212= 3:147396018-147396018 15
41 COSM101867690 ZIC4 skin,NS,carcinoma,squamous cell carcinoma c.314T>G p.V105G 3:147396226-147396226 15
42 COSM120260940 ZIC4 skin,NS,carcinoma,squamous cell carcinoma c.314T>G p.V105G 3:147396226-147396226 15
43 COSM118702064 ZIC4 skin,NS,carcinoma,squamous cell carcinoma c.71-5012C>G p.? 3:147396258-147396258 15
44 COSM129140070 ZIC4 skin,NS,carcinoma,squamous cell carcinoma c.464T>G p.V155G 3:147396226-147396226 15
45 COSM120260164 ZIC4 skin,NS,carcinoma,squamous cell carcinoma c.569A>C p.K190T 3:147395971-147395971 15
46 COSM118698551 ZIC4 skin,NS,carcinoma,squamous cell carcinoma c.71-4980T>G p.? 3:147396226-147396226 15
47 COSM101872044 ZIC4 skin,NS,carcinoma,squamous cell carcinoma c.876G>C p.P292= 3:147391059-147391059 15
48 COSM118702056 ZIC4 skin,NS,carcinoma,squamous cell carcinoma c.258G>C p.P86= 3:147391059-147391059 15
49 COSM129139322 ZIC4 skin,NS,carcinoma,squamous cell carcinoma c.719A>C p.K240T 3:147395971-147395971 15
50 COSM107143709 ZIC4 skin,NS,carcinoma,squamous cell carcinoma c.990G>C p.P330= 3:147391059-147391059 15

Expression for Skin Squamous Cell Carcinoma

Search GEO for disease gene expression data for Skin Squamous Cell Carcinoma.

Pathways for Skin Squamous Cell Carcinoma

Pathways related to Skin Squamous Cell Carcinoma according to GeneCards Suite gene sharing:

(show all 26)
# Super pathways Score Top Affiliating Genes
1 12.69 TP53 RAC1 HRAS ERBB2 BRAF
2
Show member pathways
12.68 TP53 HRAS ERBB2 CDKN2A BRAF
3
Show member pathways
12.68 TP53 RAC1 HRAS ERBB2 CDKN2A BRAF
4
Show member pathways
12.62 TP53 RAC1 HRAS ERBB2 BRAF
5
Show member pathways
12.58 TP53 HRAS ERBB2 CDKN2A BRAF
6 12.53 TP53 RAC1 IFNA1 HRAS ERBB2 CDKN2A
7
Show member pathways
12.49 TP53 RAC1 HRAS ERBB2 BRAF
8
Show member pathways
12.43 TP53 RAC1 IL10 HRAS ERBB2
9 12.37 TP53 IGF2BP1 HRAS ERBB2 CDKN2A
10
Show member pathways
12.3 TP53 RAC1 HRAS ERBB2 BRAF
11
Show member pathways
12.22 RAC1 HRAS ERBB2 BRAF
12 12.21 TP53 RAC1 HRAS CDKN2A
13
Show member pathways
12.19 TP53 RAC1 HRAS BRAF
14 12.07 RAC1 HRAS ERBB2 BRAF
15 12.03 TP53 RAC1 HRAS ERBB2 BRAF
16
Show member pathways
11.99 TP53 RAC1 HRAS BRAF
17 11.73 TP53 HRAS CDKN2A BRAF
18 11.67 TP53 ERBB2 CDKN2A
19 11.63 TP53 HRAS ERBB2
20 11.61 TP53 RAC1 HRAS ERBB2 CDKN2A
21 11.6 TP53 HRAS ERBB2
22 11.52 RAC1 HRAS ERBB2
23 11.4 TP53 RAC1 HRAS CDKN2A BRAF
24 11.34 TP53 RAC1 HRAS
25 10.89 TP53 RAC1 CDKN2A
26 10.88 TP53 HRAS ERBB2 CDKN2A BRAF

GO Terms for Skin Squamous Cell Carcinoma

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.77 TP53 KLF4 IL10 HRAS CDKN2A
2 positive regulation of protein phosphorylation GO:0001934 9.62 RARRES2 RAC1 HRAS ERBB2
3 Ras protein signal transduction GO:0007265 9.58 TP53 HRAS CDKN2A
4 negative regulation of fibroblast migration GO:0010764 9.46 RAC1 BRAF
5 negative regulation of heterotypic cell-cell adhesion GO:0034115 9.43 KLF4 IL10
6 regulation of axon regeneration GO:0048679 9.26 KLF4 BRAF
7 positive regulation of gene expression GO:0010628 9.17 TP53 MIR154 KLF4 HRAS ERBB2 CDKN2A
8 negative regulation of immature T cell proliferation in thymus GO:0033088 9.16 ERBB2 CDKN2A
9 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.13 TP53 KLF4 IL10

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

# Name GO ID Score Top Affiliating Genes
1 MDM2/MDM4 family protein binding GO:0097371 8.96 TP53 CDKN2A
2 p53 binding GO:0002039 8.8 TP53 CDKN2A BCL2L12

Sources for Skin Squamous 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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