Aliases & Classifications for Skin Disease

Summaries for Skin Disease

Disease Ontology : 12 An integumentary system disease that is located in skin.

MalaCards based summary : Skin Disease, also known as skin diseases, is related to vesiculobullous skin disease and bullous skin disease, and has symptoms including pruritus, dry skin and enanthema. An important gene associated with Skin Disease is COL17A1 (Collagen Type XVII Alpha 1 Chain), and among its related pathways/superpathways are Developmental Biology and Keratinization. The drugs Acetylcholine and Aminolevulinic acid have been mentioned in the context of this disorder. Affiliated tissues include skin, skin and t cells, and related phenotypes are craniofacial and integument

Related Diseases for Skin Disease

Diseases related to Skin Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1040)
# Related Disease Score Top Affiliating Genes
1 vesiculobullous skin disease 35.4 LAMC2 KRT14 DST COL7A1 COL17A1
2 bullous skin disease 35.2 DST DSG3 DSG1 COL17A1
3 neurotic excoriation 33.9 DST COL7A1 COL17A1
4 dermatitis 33.7 SPINK5 IL4 FLG DSG1
5 dermatitis, atopic 33.7 TNF SPINK5 LOR IL4 FLG
6 pemphigus 33.7 DST DSG3 DSG1 COL17A1
7 hidradenitis suppurativa 33.6 TNF KRT14 KRT10
8 epidermolysis bullosa 33.6 LAMC2 KRT14 DST COL7A1 COL17A1
9 bullous pemphigoid 33.5 LAMC2 DST DSG3 DSG1 COL17A1
10 lichen planus 33.4 TNF KRT10 IL4 FLG DST DSG3
11 keratosis 33.4 KRT10 KRT1 FLG DSG1
12 pemphigoid gestationis 33.3 DST COL17A1
13 cellulitis 33.3 TNF DST DSG3 DSG1 COL17A1
14 psoriasis 33.3 TNF MIR203A CDSN
15 cicatricial pemphigoid 33.2 LAMC2 DST COL17A1
16 ichthyosis 33.2 TGM1 SPINK5 LOR KRT10 KRT1 FLG
17 tungiasis 33.2 TNF IL4
18 epidermolytic hyperkeratosis 33.2 LOR KRT10 KRT1 FLG
19 subcorneal pustular dermatosis 33.2 DST DSG3 DSG1 COL17A1
20 erythrokeratodermia variabilis et progressiva 1 33.2 LOR GJB4 GJB3
21 contact dermatitis 33.0 TNF IL4 FLG
22 erythroderma, ichthyosiform, congenital reticular 33.0 KRT10 KRT1
23 linear iga disease 33.0 DST COL17A1
24 allergic contact dermatitis 32.8 TNF IL4 FLG
25 white sponge nevus 1 32.6 KRT14 KRT10 KRT1
26 autoimmune disease 32.2 TNF IL4 DSG1 COL17A1
27 pemphigus foliaceus 32.0 DST DSG3 DSG1
28 lichen planopilaris 31.9 KRT14 COL17A1
29 hidradenitis 31.8 TNF KRT14 KRT10
30 epidermolysis bullosa acquisita 31.8 DST COL7A1 COL17A1
31 palmoplantar keratosis 31.7 LOR KRT1 GJB3 DSG1
32 paraneoplastic pemphigus 31.6 DST DSG3 DSG1 COL17A1
33 papilloma 31.6 KRT14 KRT10 KRT1 IL4 FLG
34 epidermolysis bullosa dystrophica 31.5 FLG DST COL7A1
35 epidermolysis bullosa simplex 31.5 KRT14 KRT10 KRT1 DST COL17A1
36 netherton syndrome 31.5 TGM1 SPINK5 FLG DSG1
37 ichthyosis vulgaris 31.5 TGM1 SPINK5 LOR KRT10 FLG
38 keratoacanthoma 31.4 KRT10 FLG DSG1
39 junctional epidermolysis bullosa 31.4 LAMC2 DST COL17A1
40 autosomal recessive congenital ichthyosis 31.4 TGM1 SPINK5 LOR KRT10 GJB4 FLG
41 striate palmoplantar keratoderma 31.4 KRT14 KRT10 KRT1 DSG1
42 recessive dystrophic epidermolysis bullosa 31.3 KRT1 FLG COL7A1
43 basal cell carcinoma, infundibulocystic 31.2 KRT14 KRT10
44 bullous impetigo 31.2 DSG3 DSG1
45 palmoplantar keratoderma, epidermolytic 31.1 LOR KRT14 KRT10 KRT1 FLG
46 ichthyosis, congenital, autosomal recessive 4b 31.0 TGM1 FLG ABCA12
47 kid syndrome 30.9 GJB4 GJB3
48 epidermolysis bullosa, junctional, non-herlitz type 30.9 LAMC2 DST COL7A1 COL17A1
49 lichen planus pemphigoides 30.7 DST COL17A1
50 vohwinkel syndrome 30.7 TGM1 LOR

Graphical network of the top 20 diseases related to Skin Disease:

Diseases related to Skin Disease

Symptoms & Phenotypes for Skin Disease

UMLS symptoms related to Skin Disease:

pruritus, dry skin, enanthema, exanthema, skin manifestations, nasal itching

MGI Mouse Phenotypes related to Skin Disease:

# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.5 ABCA12 COL7A1 DSG3 IL4 KRT14 LAMC2
2 integument MP:0010771 9.4 ABCA12 COL7A1 DSG1 DSG3 GJB3 IL4

Drugs & Therapeutics for Skin Disease

Drugs for Skin Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 595)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
Aminolevulinic acid Approved Phase 4 106-60-5 137
Mineral oil Approved, Vet_approved Phase 4 8042-47-5
Fexofenadine Approved, Investigational Phase 4 83799-24-0 3348
Cephalexin Approved, Investigational, Vet_approved Phase 4 15686-71-2 27447
tannic acid Approved Phase 4 1401-55-4
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
Desoximetasone Approved Phase 4 382-67-2 5311067
Sirolimus Approved, Investigational Phase 4 53123-88-9 6436030 5284616 46835353
Everolimus Approved Phase 4 159351-69-6 6442177 70789204
Clavulanate Approved, Vet_approved Phase 4 58001-44-8 5280980
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
Polihexanide Approved, Investigational Phase 4 28757-47-3
Fluticasone Approved, Experimental Phase 4 90566-53-3 62924
Clindamycin Approved, Vet_approved Phase 4 18323-44-9 29029
Sultamicillin Approved, Investigational Phase 4 76497-13-7
Ampicillin Approved, Vet_approved Phase 4 69-53-4 6249
Sulbactam Approved Phase 4 68373-14-8
Simethicone Approved Phase 4 8050-81-5
Aluminum hydroxide Approved, Investigational Phase 4 21645-51-2
Magnesium hydroxide Approved, Investigational Phase 4 1309-42-8
Ciclopirox Approved, Investigational Phase 4 29342-05-0 2749
Amorolfine Approved, Investigational Phase 4 78613-35-1
Polidocanol Approved Phase 4 9002-92-0
Warfarin Approved Phase 4 81-81-2 6691 54678486
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
Phenoxyethanol Approved Phase 4 122-99-6 31236
Tocopherol Approved, Investigational Phase 4 1406-66-2, 54-28-4 14986
Kinetin Approved Phase 4 525-79-1 3830
Ivermectin Approved, Investigational, Vet_approved Phase 4 70288-86-7 6474909
Capsaicin Approved Phase 4 404-86-4 1548943
Mupirocin Approved, Investigational, Vet_approved Phase 4 12650-69-0 446596
Exemestane Approved, Investigational Phase 4 107868-30-4 60198
Bifonazole Approved, Investigational Phase 4 60628-96-8 2378
carbamide peroxide Approved Phase 4 124-43-6
Nicotine Approved Phase 4 54-11-5 942 89594
Bupropion Approved Phase 4 34841-39-9, 34911-55-2 444
Permethrin Approved, Investigational Phase 4 52645-53-1 40326
Azithromycin Approved Phase 4 83905-01-5 447043 55185
Povidone Approved Phase 4 9003-39-8
Iodine Approved, Investigational Phase 4 7553-56-2 807
Povidone-iodine Approved Phase 4 25655-41-8
Omalizumab Approved, Investigational Phase 4 242138-07-4
Clofazimine Approved, Investigational Phase 4 2030-63-9 2794
Rifampicin Approved Phase 4 13292-46-1 5381226 5458213
Heparin Approved, Investigational Phase 4 9005-49-6 46507594 772
Allantoin Approved Phase 4 97-59-6 204
Dapsone Approved, Investigational Phase 4 80-08-0 2955
Zinc Approved, Investigational Phase 4 7440-66-6 32051
Zinc oxide Approved Phase 4 1314-13-2

Interventional clinical trials:

(show top 50) (show all 829)
# Name Status NCT ID Phase Drugs
1 A Phase IV, Randomised, Multicentre, Double-blind, Study to Evaluate the Clinical Utility of Prospective Genetic Screening (HLA-B*1301) for Susceptibility to Dapsone Hypersensitivity Syndrome Unknown status NCT02550080 Phase 4 Dapsone
2 A Multicentre, Randomized, Controlled Study of the Efficacy, Safety and Cost-effectiveness of a Sequential Therapy With RV4104A Ointment, Ciclopiroxolamine Cream and Ciclopirox Film-forming Solution Compared With Amorolfine Nail Lacquer Alone for the Treatment of Dermatophytic Onychomycosis (Toenail) Without Matrix Involvement Unknown status NCT01014637 Phase 4 Amorolfine (Antifungal);RV4104A, Ciclopiroxolamine, Cyclopirox (Keratolytic Agents/Antifungal)
3 Comparison of Efficacy of Glycerol, Two Topical Steroids, and a Topical Immune Modulator Against Experimentally Induced Skin Irritation Unknown status NCT00779792 Phase 4 clobetasol;triamcinolone acetonide;tacrolimus;glycerol;vehicle ointment (paraffin oil/soft white paraffin)
4 The Use of Botulinum Toxin-A in Two-stage Tissue Expander/Implant Breast Reconstruction: A Prospective, Randomized, Double-Blind Placebo Controlled Trial Unknown status NCT01427400 Phase 4 Botulinum Toxin-A;Saline
5 Patient-Centered Comparative Effectiveness Research (CER) Study of Home-based Interventions to Prevent CA-MRSA Infection Recurrence Unknown status NCT02566928 Phase 4 2% mupirocin ointment
6 Weight Reduction Alone May Not be Sufficient to Maintain Disease Remission in Obese Patients With Psoriasis: a Randomized, Investigator-blinded Study Unknown status NCT01439425 Phase 4
7 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
8 Phase 4 Study of Assessment of Needs of Moisturizers After Various Laser Treatment Completed NCT01742247 Phase 4
9 The Evaluation of Efficacy and Safety of Fexofenadine 180mg Tablets for 7 Days in the Treatment of Pruritic Skin Disease Completed NCT00261079 Phase 4 Fexofenadine
10 A Multicenter, Open Label Study to Evaluate the Safety and Efficacy of Tigecycline to Treat Complicated Skin and Skin Structure Infections (cSSSI) in Hospitalized Patients Completed NCT00488761 Phase 4 Tigecycline
11 Study to Evaluate Resistant Disease/Max Adherence to Topical Treatments in Patients With Atopic Dermatitis and Psoriasis Completed NCT03050294 Phase 4 Desoximetasone 0.25% spray
12 An Open, Non-comparative Study to Evaluate the Efficacy and Safety of AUGMENTIN 1gm (875mg Amoxicillin/125mg Clavulanic Acid) po q 12 Hours in the Treatment of Uncomplicated Skin and Soft Tissue Infections in Pakistan Completed NCT00343135 Phase 4 amoxicillin/clavulanate potassium 1gm
13 A Phase IV, Open Label Study to Evaluate the Safety and Efficacy of Intramuscular (IM) Alefacept (Amevive) 15mg/wk in Subjects 18 Years and Older With Moderate to Severe Atopic Dermatitis Completed NCT00832585 Phase 4 Alefacept
14 Effect of Chlorhexidine Skin Cleansing on Skin Flora of Newborn Infants in Bangladesh Completed NCT00198679 Phase 4 Chlorhexidine
15 Efficacy of Intraoperative Surgical Scrubbing in Reducing Bacterial Load After Nail Removal Surgery Completed NCT01330706 Phase 4 Polihexanide
16 A Randomized, Open-label, Comparative Study to Evaluate an Intermittent Dosing Regimen of Fluticasone Propionate 0.05% Cream (Twice Per Week) in Reducing the Risk of Relapse When Added to Regular Daily Moisturization Using PHYSIOGEL Lotion in Paediatric Subjects With Stabilized Atopic Dermatitis Completed NCT01915914 Phase 4 Fluticasone propionate
17 Topical Emollient Therapy for Prevention of Infections in Preterm Infants Completed NCT00162747 Phase 4 Aquaphor;Sunflower Seed Oil
18 A Two-week Crossover Evaluation of Two Hand Antiseptic Products on Skin Condition in Healthy Human Subjects Completed NCT00731042 Phase 4 Avagard;Purell Surgical Scrub
19 Fase IV Clinical Trial to Evaluate Chondroitin Sulphate Efficacy and Safety in Patients With Knee Osteoarthritis and Psoriasis Completed NCT00669123 Phase 4 Chondroitin sulphate;Placebo
20 A Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of Etanercept in Treating Scalp Involvement in Subjects With Moderate to Severe Plaque Psoriasis Completed NCT00791765 Phase 4
21 Clinical and Economic Outcomes of Ceftaroline Fosamil for the Treatment of Acute Bacterial Skin and Skin Structure Infections Documented or at Risk of Methicillin-Resistant S. Aureus Completed NCT02582203 Phase 4 Ceftaroline;Vancomycin
22 An Evaluation of the Safety, Efficacy and Pharmacokinetics of Daptomycin in Pediatric Subjects Aged One to Seventeen Years With Complicated Skin and Skin Structure Infections Caused by Gram-Positive Pathogens Completed NCT00711802 Phase 4 Daptomycin;Standard of Care (SOC)
23 A Double-Blind, Randomized Study to Evaluate the Safety of Either a Single 1200-mg Intravenous (IV) Dose of Orbactiv™ (Oritavancin) and Placebo or Two IV Doses of Orbactiv™ in Subjects Being Treated for Acute Bacterial Skin and Skin Structure Infection (ABSSSI) Completed NCT02925416 Phase 4 oritavancin;placebo (D5W)
24 A Multicenter, Randomized, Open-Label Comparison of the Safety And Efficacy of Tigecycline With That of Ampicillin-Sulbactam or Amoxicillin-Clavulanate to Treat Complicated Skin And Skin Structure Infections Completed NCT00368537 Phase 4 Tigecycline;ampicillin-sulbactam
25 A Double Blinded Randomized Controlled Trial for the Management of Pediatric Community Acquired Skin Abscesses - To Treat or Not to Treat With Antibiotics Completed NCT00679302 Phase 4 Trimethoprim-sulfamethoxazole;Placebo group
26 An Open-Label, Non-Comparative Study to Assess the Pharmacokinetics, Safety and Efficacy of Topical Retapamulin (SB-275833) Ointment, 1%, Twice Daily for Five Days in the Treatment of Uncomplicated Skin and Skin Structure Infections in Pediatric Subjects Aged 2 to 24 Months Completed NCT00555061 Phase 4 Retapamulin Ointment, 1%
27 A Randomized Study to Evaluate Comparative Effectiveness, Inpatient Resource Utilization, and Cost of Daptomycin vs. Vancomycin in the Treatment of Patients With Complicated Skin and Skin Structure Infections Due to Suspected or Documented Methicillin-resistant Staphylococcus Aureus (MRSA) Completed NCT01419184 Phase 4 Daptomycin;Vancomycin
28 A 12-Week Open-Label Followed by 4-Week Double-Blind Study to Determine the Safety and Efficacy of an Extended Course of Alefacept (LFA-3/IgG1 Fusion Protein) in Subjects With Chronic Plaque Psoriasis Completed NCT00794807 Phase 4 Alefacept
29 A Randomized, Double-blinded Study to Evaluate the Ability of an Acne Treatment Product to Produce Visible Improvements in Acne Lesions Over a 5 Day Period of Once-daily Use Completed NCT02052752 Phase 4 3% Benzoyl Peroxide;3% Benzoyl Peroxide Placebo;Neutrogena Rapid Clear®
30 Development of a New Critical Pathway for Treatment of Acute Bacterial Skin and Skin Structure Infections Completed NCT03233438 Phase 4 Dalbavancin;Usual Care
31 An Open Label Study to Evaluate Safety, Efficacy and Tolerability of Clobetasol Propionate for the Condition of Chronic Hand Dermatitis Completed NCT00828464 Phase 4 clobetasol propionate
32 A Pragmatic Trial Designed to Evaluate a New Critical Pathway for Treatment of Patients With Acute Bacterial Skin and Skin Structure Infections Completed NCT02961764 Phase 4 Usual Care;Dalbavancin
33 Analysis of the Quality of Life, the Clinical Effectiveness and Cost-effectiveness of a Novel Educational Programme in Patients With Psoriasis and Atopic Dermatitis Completed NCT01077882 Phase 4
34 An Open-Label Study to Evaluate the Safety of a Single 1200 mg IV Dose of Orbactiv (Oritavancin) in Subjects on Concomitant Chronic Warfarin Therapy Being Treated For Acute Bacterial Skin and Skin Structure Infection (ABSSSI) Completed NCT02452918 Phase 4 Oritavancin
35 Monocentric, Randomized, Subject and Rater Blinded Clinical Investigation to Prove the Non-inferiority of Belotero® Basic Versus Juvéderm® Ultra 3 Containing Lidocaine - After Single Injection for Correction of Nasolabial Folds (NLF) Completed NCT01305187 Phase 4
36 A Randomized, Double-Blinded Study of Epiceram Versus Elidel in Pediatric Subjects With Mild to Moderate Atopic Dermatitis Completed NCT00460083 Phase 4 Elidel(R) (pimecrolimus 1%)
37 A Randomized, Double-Blind, Two-Period Study to Evaluate the Safety and Efficacy of Etanercept on Skin and Joint Disease in Psoriasis Subjects With Psoriatic Arthritis. Completed NCT00245960 Phase 4 etanercept
38 Randomized Clinical Trial of Wound Packing Following Incision and Drainage of Superficial Skin Abscesses in the Pediatric Emergency Department Completed NCT00746109 Phase 4
39 Evaluation of Daptomycin for the Emergency Department Treatment of Complicated Skin and Skin Structure Infections Completed NCT01549613 Phase 4 Daptomycin;Vancomycin
40 A Single Arm, Phase IV, Open-Label, Split-Face Trial to Evaluate the Efficacy and Safety of Kinetin, N6-furfuryladenine, 0.1% for Treatment of Cutaneous Photoaging Completed NCT01898182 Phase 4
41 Subject Adherence and Satisfaction for Treatment of Onychomycosis With Loceryl Nail Lacquer 5% Versus Ciclopirox Nail Lacquer Completed NCT02679911 Phase 4 Loceryl NL;Ciclopirox NL
42 Ethnic Differences in Response to Topical Capsaicin: A Psychophysical Study on Healthy Subjects Completed NCT00655811 Phase 4 Capsaicin;Placebo moisturizing cream
43 A Phase IV Multicentre, Open Label Study of Postmenopausal Women With Oestrogen Receptor Positive Locally Advanced or Metastatic Breast Cancer Treated With Everolimus (RAD001) in Combination With Exemestane, With Exploratory Epigenetic Marker Analysis Completed NCT01743560 Phase 4 RAD001;Exemestane
44 Determination of Antifungal Activity of Loceryl Nail Lacquer 5% When Used Concomitantly With a Cosmetic Nail Varnish Compared to a Loceryl Nail Lacquer (NL) 5% Alone in Treatment of Toenail Distal Subungual Onychomycosis Completed NCT02321098 Phase 4 Loceryl NL + Cosmetic varnish;Loceryl NL 12 weeks;Loceryl NL 15 months
45 Subject Adherence and Satisfaction for Treatment of Onychomycosis With Loceryl Nail Lacquer 5% Versus a Fungal Nail Treatment Set Containing Urea 40% Ointment and Bifonazole Cream 1% Completed NCT02705664 Phase 4 Loceryl Nail Lacquer;Urea Ointment;Bifonazole Cream
46 Randomized Clinical Trial Comparing a Medication, i.e., Sustained-Release Bupropion (Zyban®) With an Ultrashort (1 1/2 d) Manual-Based Psychotherapeutic Intervention, Psychodynamic Model Training® Completed NCT00484692 Phase 4 sustained-release bupropion (Zyban(R))
47 The Efficacy and Safety of Tacrolimus Ointment in Pediatric Patients With Moderate to Severe Atopic Dermatitis Completed NCT01782729 Phase 4 Tacrolimus
48 Impact of Combined Azithromycin and Ivermectin Mass Drug Administration for Yaws and Scabies - Impact on Impetigo and Skin Microbiology Completed NCT02775617 Phase 4 Ivermectin;Azithromycin;Permethrin
49 Skin and Soft Tissue Infection (SSTI) Study Completed NCT02600871 Phase 4 Provodine
50 Comparison of Cephalexin Versus Clindamycin in the Empiric, Outpatient Treatment of Suspected Staphylococcal Cutaneous Infections in the Era of Community-associated Methicillin-resistant Staphylococcus Aureus (CA-MRSA) Completed NCT00352612 Phase 4 clindamycin;cephalexin

Search NIH Clinical Center for Skin Disease

Inferred drug relations via UMLS 72 / NDF-RT 51 :

Aloe Vera Leaf
Botulinum Toxin Type A
Fluocinolone acetonide
Gotu Kola Extract
Hydrocortisone valerate
prednisolone acetate
Prednisolone sodium phosphate
prednisolone tebutate

Cell-based therapeutics:

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Skin Disease cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Skin Disease:
JACE, cultured epidermis for skin replacement
Embryonic/Adult Cultured Cells Related to Skin Disease:
Cultured epidermis (JACE) PMIDs: 23265935 17465819 11987545

Cochrane evidence based reviews: skin diseases

Genetic Tests for Skin Disease

Genetic tests related to Skin Disease:

# Genetic test Affiliating Genes
1 Abnormality of the Skin 29

Anatomical Context for Skin Disease

The Foundational Model of Anatomy Ontology organs/tissues related to Skin Disease:


MalaCards organs/tissues related to Skin Disease:

Skin, T Cells, Testes, Neutrophil, Bone, Endothelial, Breast

Publications for Skin Disease

Articles related to Skin Disease:

(show top 50) (show all 21711)
# Title Authors PMID Year
Activation of vascular endothelial growth factor receptor 2 in a cellular model of loricrin keratoderma. 9 38
20236940 2010
Neurotrophins in healthy and diseased skin. 9 38
20467394 2010
MAP17 is associated with the T-helper cell cytokine-induced down-regulation of filaggrin transcription in human keratinocytes. 9 38
19601982 2010
Complex gene-chemical interactions: hepatic uroporphyria as a paradigm. 9 38
20099833 2010
[Production of interleukin-8 by circulating CLA+ T cells with skin tropism in patients with psoriasis and in healthy controls]. 9 38
20223157 2010
Tumor necrosis factor alpha blockade exacerbates murine psoriasis-like disease by enhancing Th17 function and decreasing expansion of Treg cells. 9 38
20112373 2010
EKV mutant connexin 31 associated cell death is mediated by ER stress. 9 38
19755382 2009
Th22 cells represent a distinct human T cell subset involved in epidermal immunity and remodeling. 9 38
19920355 2009
Connexin-26 mutations in deafness and skin disease. 9 38
19939300 2009
Adverse cutaneous reactions induced by TNF-alpha antagonist therapy. 9 38
19864977 2009
Differential expression of phosphorylated extracellular signal-regulated kinase 1/2, phosphorylated p38 mitogen-activated protein kinase and nuclear factor-kappaB p105/p50 in chronic inflammatory skin diseases. 9 38
19785707 2009
Design and validation of a conformation-sensitive capillary electrophoresis system for mutation identification of the COL7A1 gene with automated peak comparison. 9 38
19814614 2009
Suppression of thymus- and activation-regulated chemokine (TARC/CCL17) production by 1,2,3,4,6-penta-O-galloyl-beta-D-glucose via blockade of NF-kappaB and STAT1 activation in the HaCaT cells. 9 38
19576177 2009
Reddish, scaly, and itchy: how proteases and their inhibitors contribute to inflammatory skin diseases. 9 38
19688185 2009
Anti-desmoglein 1 antibodies in healthy related and unrelated subjects and patients with pemphigus foliaceus in endemic and non-endemic areas from Tunisia. 9 38
19453789 2009
A distinct profile of serum levels of soluble intercellular adhesion molecule-1 and intercellular adhesion molecule-3 in mycosis fungoides and Sézary syndrome. 9 38
19615537 2009
A heterozygous null mutation combined with the G1258A polymorphism of SPINK5 causes impaired LEKTI function and abnormal expression of skin barrier proteins. 9 38
19438860 2009
Association between a common IL10 distal promoter haplotype and IgE production in individuals with atopic dermatitis. 9 38
19552724 2009
Bullous congenital ichthyosiform erythroderma: a sporadic case produced by a new KRT10 gene mutation. 9 38
19689541 2009
A functional polymorphism in the SPINK5 gene is associated with asthma in a Chinese Han Population. 9 38
19534795 2009
PKA-induced F-actin rearrangement requires phosphorylation of Hsp27 by the MAPKAP kinase MK5. 9 38
19166925 2009
Connexin mutations causing skin disease and deafness increase hemichannel activity and cell death when expressed in Xenopus oocytes. 9 38
18987669 2009
Loss of serum response factor in keratinocytes results in hyperproliferative skin disease in mice. 9 38
19307725 2009
Efalizumab binding to the LFA-1 alphaL I domain blocks ICAM-1 binding via steric hindrance. 9 38
19258452 2009
Knuckle pads, in an epidermal palmoplantar keratoderma patient with Keratin 9 R163W transgrediens expression. 9 38
19106041 2009
Functional characterization of IL-17F as a selective neutrophil attractant in psoriasis. 9 38
18830271 2009
Connexin mutations in Brazilian patients with skin disorders with or without hearing loss. 9 38
19283857 2009
Keratinocytes enriched for epidermal stem cells differ in their response to IFN-gamma from other proliferative keratinocytes. 9 38
18557928 2008
TNF-alpha stimulates Akt by a distinct aPKC-dependent pathway in premalignant keratinocytes. 9 38
18557926 2008
Reactive oxygen species in tumor necrosis factor-alpha-activated primary human keratinocytes: implications for psoriasis and inflammatory skin disease. 9 38
18463678 2008
Desquamative enteropathy and pyloric atresia without skin disease caused by a novel intracellular beta4 integrin mutation. 9 38
18955862 2008
Th17 cytokines interleukin (IL)-17 and IL-22 modulate distinct inflammatory and keratinocyte-response pathways. 9 38
18684158 2008
Novel immunological approaches in the treatment of atopic eczema. 9 38
18769195 2008
CD40 expression on antigen presenting cells and correlation with disease severity in atopic dermatitis. 9 38
18693155 2008
An eosinophil immune response characterizes the inflammatory skin disease observed in Tie-2 transgenic mice. 9 38
18443190 2008
Efficacy and safety of TNF-blocker therapy in systemic lupus erythematosus. 9 38
18613805 2008
TGF-beta-dependent suppressive function of Tregs requires wild-type levels of CD18 in a mouse model of psoriasis. 9 38
18521187 2008
Psoriatic skin lesions induced by tumor necrosis factor antagonist therapy: a literature review and potential mechanisms of action. 9 38
18576309 2008
Microbicidal protein psoriasin is a multifunctional modulator of neutrophil activation. 9 38
18194266 2008
Antimicrobial peptides, skin infections, and atopic dermatitis. 9 38
18620136 2008
IgE antibody responses in young children with atopic dermatitis. 9 38
18422892 2008
[Biological treatment of psoriasis and psoriatic arthritis]. 9 38
18565300 2008
A novel M163L mutation in connexin 26 causing cell death and associated with autosomal dominant hearing loss. 9 38
18472371 2008
Filaggrin mutations, atopic eczema, hay fever, and asthma in children. 9 38
18396323 2008
Targeted deletion of the murine corneodesmosin gene delineates its essential role in skin and hair physiology. 9 38
18436651 2008
5' trans-splicing repair of the PLEC1 gene. 9 38
17989727 2008
Thematic review series: skin lipids. Peroxisome proliferator-activated receptors and liver X receptors in epidermal biology. 9 38
18182682 2008
A skin microRNA promotes differentiation by repressing 'stemness'. 88
18311128 2008
Preliminary validation and clinical meaning of the Cutaneous Assessment Tool in juvenile dermatomyositis. 9 38
18240194 2008
Closing the gap on autosomal dominant connexin-26 and connexin-43 mutants linked to human disease. 9 38
18089569 2008

Variations for Skin Disease

ClinVar genetic disease variations for Skin Disease:

# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 COL7A1 NM_000094.3(COL7A1): c.2005C> T (p.Arg669Ter) single nucleotide variant Pathogenic rs780261665 3:48627691-48627691 3:48590258-48590258
2 FLG NM_002016.1(FLG): c.544A> T (p.Lys182Ter) single nucleotide variant Pathogenic rs1218912272 1:152286818-152286818 1:152314342-152314342
3 COL7A1 NM_000094.3(COL7A1): c.425A> G (p.Lys142Arg) single nucleotide variant Pathogenic rs121912856 3:48630971-48630971 3:48593538-48593538
4 COL17A1 NM_000494.4(COL17A1): c.4143_4144AG[1] (p.Glu1382fs) short repeat Pathogenic 10:105793710-105793714 10:104033953-104033956
5 KRT1 NM_006121.4(KRT1): c.744T> A (p.Asp248Glu) single nucleotide variant Uncertain significance rs1555171425 12:53072388-53072388 12:52678604-52678604

Expression for Skin Disease

Search GEO for disease gene expression data for Skin Disease.

Pathways for Skin Disease

Pathways related to Skin Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
Show member pathways
Show member pathways
Show member pathways
11.47 KRT14 KRT1 DST
4 10.46 TNF LAMC2 IL4 COL7A1 COL17A1

GO Terms for Skin Disease

Cellular components related to Skin Disease according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.91 GJB4 GJB3 DST DSG3 DSG1 COL17A1
2 collagen-containing extracellular matrix GO:0062023 9.78 LAMC2 FLG COL7A1 COL17A1
3 extracellular matrix GO:0031012 9.67 LAMC2 COL7A1 COL17A1
4 cell-cell junction GO:0005911 9.67 GJB3 DSG1 COL17A1 CDSN
5 basement membrane GO:0005604 9.46 LAMC2 DST COL7A1 COL17A1
6 desmosome GO:0030057 9.43 DSG3 DSG1 CDSN
7 hemidesmosome GO:0030056 9.4 DST COL17A1
8 intermediate filament GO:0005882 9.35 KRT14 KRT10 KRT1 FLG DST
9 epidermal lamellar body GO:0097209 9.32 SPINK5 ABCA12
10 cornified envelope GO:0001533 9.23 TGM1 LOR KRT10 KRT1 FLG DSG3
11 extracellular region GO:0005576 10.11 TNF SPINK5 LAMC2 KRT10 KRT1 IL4

Biological processes related to Skin Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.93 LAMC2 DST DSG3 DSG1 COL7A1 CDSN
2 extracellular matrix organization GO:0030198 9.8 TNF SPINK5 LAMC2 COL7A1 COL17A1
3 epidermis development GO:0008544 9.77 LAMC2 KRT14 COL7A1 COL17A1 CDSN
4 peptide cross-linking GO:0018149 9.72 TGM1 LOR KRT10 KRT1 FLG
5 keratinocyte differentiation GO:0030216 9.63 TGM1 LOR KRT10 FLG CDSN ABCA12
6 establishment of skin barrier GO:0061436 9.61 KRT1 FLG ABCA12
7 hemidesmosome assembly GO:0031581 9.56 LAMC2 KRT14 DST COL17A1
8 keratinization GO:0031424 9.56 TGM1 LOR KRT14 KRT10 KRT1 DSG3
9 positive regulation of protein localization to cell surface GO:2000010 9.48 TNF ABCA12
10 cornification GO:0070268 9.32 TGM1 SPINK5 LOR KRT14 KRT10 KRT1

Molecular functions related to Skin Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 9.26 LOR KRT10 FLG DST
2 structural constituent of epidermis GO:0030280 8.92 LOR KRT10 KRT1 FLG

Sources for Skin Disease

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
55 Novoseek
58 OMIM via Orphanet
62 PubMed
71 Tocris
73 UMLS via Orphanet
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