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 dry skin, pruritus 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, t cells and testes, and related phenotype is 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 1072)
# Related Disease Score Top Affiliating Genes
1 vesiculobullous skin disease 35.6 LAMC2 KRT14 KRT10 KRT1 DST DSG3
2 bullous skin disease 35.1 DST DSG4 DSG3 DSG1 COL17A1
3 psoriasis 34.2 TNF TGM1 MIR203A LORICRIN KRT14 KRT10
4 peeling skin syndrome 34.2 TGM1 DSG1 COL7A1 CDSN
5 dermatitis, atopic 33.9 TNF SPINK5 LORICRIN KRT14 IVL IL4
6 epidermolysis bullosa 33.9 LORICRIN LAMC2 KRT14 KRT10 KRT1 IVL
7 dermatitis 33.8 TNF SPINK5 LORICRIN IVL IL4 FLG
8 lichen planus 33.8 TNF LAMC2 KRT10 KRT1 IVL IL4
9 pemphigus 33.7 TNF IL4 DST DSG4 DSG3 DSG1
10 neurotic excoriation 33.7 DST COL7A1 COL17A1
11 bullous pemphigoid 33.7 TNF LAMC2 KRT14 IVL IL4 DST
12 hidradenitis suppurativa 33.6 TNF KRT14 KRT10 DSG3 DSG1
13 ichthyosis 33.5 TGM1 SPINK5 LORICRIN KRT10 KRT1 IVL
14 keratosis 33.4 KRT10 KRT1 IVL FLG DST DSG4
15 pemphigus vulgaris, familial 33.4 IVL DST DSG4 DSG3 DSG1 COL17A1
16 cellulitis 33.4 TNF IL4 DST DSG4 DSG3 DSG1
17 pemphigoid gestationis 33.3 DST DSG3 DSG1 COL17A1
18 epidermolytic hyperkeratosis 33.3 TGM1 LORICRIN KRT14 KRT10 KRT1 IVL
19 netherton syndrome 33.2 TGM1 SPINK5 FLG DSG1 CDSN
20 cicatricial pemphigoid 33.1 LAMC2 IL4 DST COL17A1
21 molluscum contagiosum 33.1 TNF LORICRIN IVL FLG
22 benign chronic pemphigus 33.1 IVL DSG4 DSG3 DSG1
23 subcorneal pustular dermatosis 33.1 DST DSG3 DSG1 COL17A1
24 nevus, epidermal 33.0 KRT10 KRT1 IVL GJB3
25 dermatitis herpetiformis 33.0 TNF TGM1 IL4
26 erythrokeratodermia variabilis et progressiva 1 33.0 TGM1 LORICRIN KRT1 GJB3
27 contact dermatitis 33.0 TNF IVL IL4 FLG
28 epidermolysis bullosa, junctional, herlitz type 32.9 LAMC2 COL7A1 COL17A1
29 kindler syndrome 32.9 DST COL7A1 COL17A1
30 irritant dermatitis 32.8 TNF LORICRIN IVL IL4 FLG
31 linear iga disease 32.8 DST COL17A1
32 erythroderma, ichthyosiform, congenital reticular 32.7 KRT10 KRT1
33 allergic contact dermatitis 32.6 TNF IL4 FLG
34 familial woolly hair syndrome 32.6 DSG4 DSG3 DSG1 CDSN
35 white sponge nevus 1 32.4 KRT14 KRT10 KRT1
36 autoimmune disease 32.2 TNF IL4 DSG3 DSG1 COL17A1
37 alopecia 32.2 TNF KRT14 IL4 COL7A1
38 basal cell carcinoma 32.0 TNF LAMC2 KRT14 KRT10 IVL DST
39 hidradenitis 32.0 TNF KRT14 KRT10 DSG3 DSG1
40 seborrheic dermatitis 32.0 TNF FLG DSG1
41 pyoderma 31.9 TNF DSG3 DSG1
42 autosomal recessive congenital ichthyosis 31.8 TGM1 SPINK5 LORICRIN KRT14 KRT10 KRT1
43 palmoplantar keratosis 31.8 LORICRIN KRT10 KRT1 GJB3 DSG4 DSG3
44 epidermolysis bullosa simplex 31.8 LORICRIN KRT14 KRT10 KRT1 IVL FLG
45 impetigo 31.7 DSG4 DSG3 DSG1
46 pemphigus foliaceus 31.7 DST DSG3 DSG1
47 ichthyosis vulgaris 31.7 TGM1 SPINK5 LORICRIN KRT14 KRT10 KRT1
48 epidermolysis bullosa acquisita 31.7 LAMC2 DST COL7A1 COL17A1
49 elastosis perforans serpiginosa 31.7 TGM1 IVL
50 papilloma 31.6 KRT14 KRT10 KRT1 IVL IL4 FLG

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:

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

MGI Mouse Phenotypes related to Skin Disease:

# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.4 COL7A1 DSG1 DSG3 DSG4 GJB3 IL4

Drugs & Therapeutics for Skin Disease

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

(show top 50) (show all 549)
# 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
Ceftaroline fosamil Approved, Investigational Phase 4 229016-73-3
Desoximetasone Approved Phase 4 382-67-2 5311067
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
Clindamycin Approved, Vet_approved Phase 4 18323-44-9 29029
Fluticasone Approved, Experimental Phase 4 90566-53-3 62924
Ampicillin Approved, Vet_approved Phase 4 69-53-4 6249
Sulbactam Approved Phase 4 68373-14-8
Sultamicillin Approved, Investigational Phase 4 76497-13-7
Oritavancin Approved, Investigational Phase 4 171099-57-3 16129632
Simethicone Approved Phase 4 8050-81-5
Warfarin Approved Phase 4 81-81-2 6691 54678486
Polidocanol Approved Phase 4 9002-92-0
Ciclopirox Approved, Investigational Phase 4 29342-05-0 2749
Amorolfine Approved, Investigational Phase 4 78613-35-1
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
Kinetin Approved Phase 4 525-79-1 3830
Tocopherol Approved, Investigational Phase 4 1406-66-2, 54-28-4 14986
Capsaicin Approved Phase 4 404-86-4 1548943
Everolimus Approved Phase 4 159351-69-6 70789204 6442177
Exemestane Approved, Investigational Phase 4 107868-30-4 60198
Mupirocin Approved, Investigational, Vet_approved Phase 4 12650-69-0 446596
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 34911-55-2, 34841-39-9 444
Permethrin Approved, Investigational Phase 4 52645-53-1 40326
Azithromycin Approved Phase 4 83905-01-5 447043 55185
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
leucovorin Approved Phase 4 58-05-9 6006 143
Adalimumab Approved Phase 4 331731-18-1 16219006
Dapsone Approved, Investigational Phase 4 80-08-0 2955
Methotrexate Approved Phase 4 59-05-2, 1959-05-2 126941
Bacitracin Approved, Vet_approved Phase 4 1405-87-4 439542 10909430
Ibuprofen Approved Phase 4 15687-27-1 3672
Dalbavancin Approved, Investigational Phase 4 171500-79-1, 91097-81-3 122186
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
Ketorolac Approved Phase 4 66635-83-4, 74103-06-3 3826
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
Leflunomide Approved, Investigational Phase 4 75706-12-6 3899

Interventional clinical trials:

(show top 50) (show all 876)
# 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 A Randomized Controlled Pilot Study Comparing the Efficacy of Topical Coal Tar to Topical Corticosteroids in Children Aged 1 to < 16 Years With Moderate-severe Atopic Dermatitis Unknown status NCT03461302 Phase 4 Topical coal tar;Topical corticosteroids
4 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)
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 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
7 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
8 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
9 Phase 4 Study of Assessment of Needs of Moisturizers After Various Laser Treatment Completed NCT01742247 Phase 4
10 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
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 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
14 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
15 Efficacy of Intraoperative Surgical Scrubbing in Reducing Bacterial Load After Nail Removal Surgery Completed NCT01330706 Phase 4 Polihexanide
16 Effect of Chlorhexidine Skin Cleansing on Skin Flora of Newborn Infants in Bangladesh Completed NCT00198679 Phase 4 Chlorhexidine
17 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
18 Topical Emollient Therapy for Prevention of Infections in Preterm Infants Completed NCT00162747 Phase 4 Aquaphor;Sunflower Seed Oil
19 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
20 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
21 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
22 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
23 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)
24 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)
25 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
26 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
27 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%
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 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
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 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
33 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
34 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
35 Development of a New Critical Pathway for Treatment of Acute Bacterial Skin and Skin Structure Infections Completed NCT03233438 Phase 4 Dalbavancin;Usual Care
36 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
37 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%)
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 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
40 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
41 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
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 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
45 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
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 A Double-blinded, Placebo-controlled Study to Evaluate the Tolerability and Efficacy of Enstilar® (Calcipotriene and Betamethasone Dipropionate) Foam in the Treatment of Chronic Plaque Psoriasis in Patients With Skin of Color Completed NCT03506477 Phase 4 Enstilar® foam;Vehicle foam
48 Evaluation of Daptomycin for the Emergency Department Treatment of Complicated Skin and Skin Structure Infections Completed NCT01549613 Phase 4 Daptomycin;Vancomycin
49 Formulation and Clinical Evaluation of Ethosomal and Liposomal Preparations of Anthralin in Psoriasis Completed NCT03348462 Phase 4 ethosomal preparation of anthralin;liposomal preparation of anthralin
50 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

Search NIH Clinical Center for Skin Disease

Inferred drug relations via UMLS 71 / NDF-RT 50 :

Botulinum Toxin Type A
Gotu Kola Extract
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.

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 22913)
# Title Authors PMID Year
Activation of vascular endothelial growth factor receptor 2 in a cellular model of loricrin keratoderma. 54 61
20236940 2010
Neurotrophins in healthy and diseased skin. 54 61
20467394 2010
MAP17 is associated with the T-helper cell cytokine-induced down-regulation of filaggrin transcription in human keratinocytes. 54 61
19601982 2010
Complex gene-chemical interactions: hepatic uroporphyria as a paradigm. 61 54
20099833 2010
[Production of interleukin-8 by circulating CLA+ T cells with skin tropism in patients with psoriasis and in healthy controls]. 54 61
20223157 2010
Tumor necrosis factor alpha blockade exacerbates murine psoriasis-like disease by enhancing Th17 function and decreasing expansion of Treg cells. 61 54
20112373 2010
EKV mutant connexin 31 associated cell death is mediated by ER stress. 61 54
19755382 2009
Th22 cells represent a distinct human T cell subset involved in epidermal immunity and remodeling. 61 54
19920355 2009
Connexin-26 mutations in deafness and skin disease. 61 54
19939300 2009
Adverse cutaneous reactions induced by TNF-alpha antagonist therapy. 61 54
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. 61 54
19785707 2009
Design and validation of a conformation-sensitive capillary electrophoresis system for mutation identification of the COL7A1 gene with automated peak comparison. 61 54
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. 54 61
19576177 2009
Reddish, scaly, and itchy: how proteases and their inhibitors contribute to inflammatory skin diseases. 61 54
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. 54 61
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. 54 61
19615537 2009
A heterozygous null mutation combined with the G1258A polymorphism of SPINK5 causes impaired LEKTI function and abnormal expression of skin barrier proteins. 54 61
19438860 2009
Association between a common IL10 distal promoter haplotype and IgE production in individuals with atopic dermatitis. 61 54
19552724 2009
Bullous congenital ichthyosiform erythroderma: a sporadic case produced by a new KRT10 gene mutation. 61 54
19689541 2009
A functional polymorphism in the SPINK5 gene is associated with asthma in a Chinese Han Population. 61 54
19534795 2009
PKA-induced F-actin rearrangement requires phosphorylation of Hsp27 by the MAPKAP kinase MK5. 54 61
19166925 2009
Loss of serum response factor in keratinocytes results in hyperproliferative skin disease in mice. 54 61
19307725 2009
Connexin mutations causing skin disease and deafness increase hemichannel activity and cell death when expressed in Xenopus oocytes. 54 61
18987669 2009
Efalizumab binding to the LFA-1 alphaL I domain blocks ICAM-1 binding via steric hindrance. 61 54
19258452 2009
Functional characterization of IL-17F as a selective neutrophil attractant in psoriasis. 61 54
18830271 2009
Knuckle pads, in an epidermal palmoplantar keratoderma patient with Keratin 9 R163W transgrediens expression. 61 54
19106041 2009
Connexin mutations in Brazilian patients with skin disorders with or without hearing loss. 54 61
19283857 2009
TNF-alpha stimulates Akt by a distinct aPKC-dependent pathway in premalignant keratinocytes. 54 61
18557926 2008
Keratinocytes enriched for epidermal stem cells differ in their response to IFN-gamma from other proliferative keratinocytes. 54 61
18557928 2008
Th17 cytokines interleukin (IL)-17 and IL-22 modulate distinct inflammatory and keratinocyte-response pathways. 54 61
18684158 2008
Reactive oxygen species in tumor necrosis factor-alpha-activated primary human keratinocytes: implications for psoriasis and inflammatory skin disease. 54 61
18463678 2008
Desquamative enteropathy and pyloric atresia without skin disease caused by a novel intracellular beta4 integrin mutation. 61 54
18955862 2008
Novel immunological approaches in the treatment of atopic eczema. 61 54
18769195 2008
CD40 expression on antigen presenting cells and correlation with disease severity in atopic dermatitis. 54 61
18693155 2008
An eosinophil immune response characterizes the inflammatory skin disease observed in Tie-2 transgenic mice. 54 61
18443190 2008
Psoriatic skin lesions induced by tumor necrosis factor antagonist therapy: a literature review and potential mechanisms of action. 61 54
18576309 2008
Microbicidal protein psoriasin is a multifunctional modulator of neutrophil activation. 61 54
18194266 2008
Efficacy and safety of TNF-blocker therapy in systemic lupus erythematosus. 61 54
18613805 2008
TGF-beta-dependent suppressive function of Tregs requires wild-type levels of CD18 in a mouse model of psoriasis. 54 61
18521187 2008
[Biological treatment of psoriasis and psoriatic arthritis]. 54 61
18565300 2008
Antimicrobial peptides, skin infections, and atopic dermatitis. 54 61
18620136 2008
IgE antibody responses in young children with atopic dermatitis. 61 54
18422892 2008
A novel M163L mutation in connexin 26 causing cell death and associated with autosomal dominant hearing loss. 61 54
18472371 2008
Filaggrin mutations, atopic eczema, hay fever, and asthma in children. 54 61
18396323 2008
Targeted deletion of the murine corneodesmosin gene delineates its essential role in skin and hair physiology. 61 54
18436651 2008
Thematic review series: skin lipids. Peroxisome proliferator-activated receptors and liver X receptors in epidermal biology. 54 61
18182682 2008
5' trans-splicing repair of the PLEC1 gene. 54 61
17989727 2008
A skin microRNA promotes differentiation by repressing 'stemness'. 46
18311128 2008
Preliminary validation and clinical meaning of the Cutaneous Assessment Tool in juvenile dermatomyositis. 61 54
18240194 2008
Closing the gap on autosomal dominant connexin-26 and connexin-43 mutants linked to human disease. 61 54
18089569 2008

Variations for Skin Disease

ClinVar genetic disease variations for Skin Disease:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FLG NM_002016.1(FLG):c.544A>T (p.Lys182Ter)SNV Pathogenic 523448 rs1218912272 1:152286818-152286818 1:152314342-152314342
2 COL17A1 NM_000494.4(COL17A1):c.4143_4144AG[1] (p.Glu1382fs)short repeat Pathogenic 599000 rs765243124 10:105793711-105793714 10:104033953-104033956
3 COL7A1 NM_000094.3(COL7A1):c.425A>G (p.Lys142Arg)SNV Pathogenic 29636 rs121912856 3:48630971-48630971 3:48593538-48593538
4 COL7A1 NM_000094.3(COL7A1):c.2005C>T (p.Arg669Ter)SNV Pathogenic 374052 rs780261665 3:48627691-48627691 3:48590258-48590258
5 KRT1 NM_006121.4(KRT1):c.744T>A (p.Asp248Glu)SNV Uncertain significance 523489 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
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11.58 KRT14 KRT1 DST
4 11.48 KRT14 KRT10 DSG1
5 11.3 KRT14 KRT1 IVL
6 10.56 TNF LAMC2 IL4 COL7A1 COL17A1

GO Terms for Skin Disease

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.09 TNF SPINK5 LAMC2 KRT10 KRT1 IL4
2 cell junction GO:0030054 9.93 GJB3 DST DSG4 DSG3 DSG1 COL17A1
3 collagen-containing extracellular matrix GO:0062023 9.77 LAMC2 KRT1 FLG COL7A1 COL17A1
4 intermediate filament GO:0005882 9.65 KRT14 KRT10 KRT1 FLG DST
5 cell-cell junction GO:0005911 9.63 GJB3 DSG4 DSG3 DSG1 COL17A1 CDSN
6 basement membrane GO:0005604 9.62 LAMC2 DST COL7A1 COL17A1
7 hemidesmosome GO:0030056 9.4 DST COL17A1
8 cornified envelope GO:0001533 9.32 TGM1 LORICRIN KRT10 KRT1 IVL FLG
9 desmosome GO:0030057 9.26 DSG4 DSG3 DSG1 CDSN

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.95 LAMC2 DST DSG4 DSG3 DSG1 COL7A1
2 extracellular matrix organization GO:0030198 9.83 TNF SPINK5 LAMC2 COL7A1 COL17A1
3 epidermis development GO:0008544 9.77 LAMC2 KRT14 COL7A1 COL17A1 CDSN
4 cell-cell adhesion GO:0098609 9.76 DSG4 DSG3 DSG1 CDSN
5 peptide cross-linking GO:0018149 9.73 TGM1 LORICRIN KRT10 KRT1 IVL FLG
6 keratinocyte differentiation GO:0030216 9.7 TGM1 LORICRIN KRT10 IVL FLG DSG4
7 hemidesmosome assembly GO:0031581 9.62 LAMC2 KRT14 DST COL17A1
8 keratinization GO:0031424 9.61 TGM1 LORICRIN KRT14 KRT10 KRT1 IVL
9 protein heterotetramerization GO:0051290 9.51 KRT10 KRT1
10 positive regulation of chemokine biosynthetic process GO:0045080 9.49 TNF IL4
11 positive regulation of mononuclear cell migration GO:0071677 9.48 TNF IL4
12 cornification GO:0070268 9.4 TGM1 SPINK5 LORICRIN 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 9.35 LORICRIN KRT14 KRT10 FLG DST
2 structural constituent of epidermis GO:0030280 8.92 LORICRIN KRT10 KRT1 FLG

Sources for Skin Disease

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
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