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 psoriasis and peeling skin syndrome, 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 Clobetasol have been mentioned in the context of this disorder. Affiliated tissues include skin, t cells and endothelial, 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 1090)
# Related Disease Score Top Affiliating Genes
1 psoriasis 33.2 TNF TGM1 MIR203A LORICRIN KRT14 KRT10
2 peeling skin syndrome 33.1 SPINK5 FLG-AS1 DSG1 COL7A1 CDSN
3 dermatitis, atopic 32.9 TNF SPINK5 LORICRIN IVL IL4 FLG
4 subcorneal pustular dermatosis 32.9 DST DSG3 DSG1 COL17A1
5 bullous skin disease 32.9 DST DSG3 DSG1 COL17A1
6 dermatitis 32.7 TNF SPINK5 LORICRIN IVL IL4 FLG-AS1
7 neurotic excoriation 32.7 DST COL7A1 COL17A1
8 bullous pemphigoid 32.7 TNF LAMC2 KRT14 IVL IL4 DST
9 lichen planus 32.7 TNF LAMC2 KRT10 IVL IL4 FLG
10 epidermolysis bullosa 32.7 LORICRIN LAMC2 KRT14 KRT10 IVL FLG
11 ichthyosis 32.6 TGM1 SPINK5 LORICRIN KRT10 IVL FLG-AS1
12 keratosis 32.6 TGM1 LORICRIN KRT14 KRT10 IVL FLG
13 pemphigus 32.6 TNF IL4 DST DSG3 DSG1 COL17A1
14 epidermolytic hyperkeratosis 32.4 TGM1 LORICRIN KRT14 KRT10 IVL FLG
15 pemphigus vulgaris, familial 32.4 IVL DST DSG3 DSG1 COL17A1
16 netherton syndrome 32.3 TGM1 SPINK5 FLG DSG1 CDSN
17 erythrokeratodermia variabilis et progressiva 1 32.3 TGM1 LORICRIN KRT10 DSG1 ABCA12
18 pemphigoid gestationis 32.3 DST DSG3 DSG1 COL17A1
19 molluscum contagiosum 32.2 TNF LORICRIN IVL FLG
20 dermatitis herpetiformis 32.2 TNF TGM1 IL4
21 benign chronic pemphigus 32.1 IVL DSG3 DSG1
22 nevus, epidermal 32.1 KRT10 IVL COL7A1
23 kindler syndrome 32.1 DST COL7A1 COL17A1
24 familial woolly hair syndrome 32.1 DSG3 DSG1 CDSN
25 linear iga disease 32.0 DST COL17A1
26 skin carcinoma 31.9 TNF LORICRIN KRT14 KRT10 IVL IL4
27 contact dermatitis 31.9 TNF IVL IL4 FLG
28 tungiasis 31.8 TNF IL4
29 pemphigoid 31.8 TNF IL4 DST COL17A1
30 acrokeratosis verruciformis 31.6 TGM1 ABCA12
31 irritant dermatitis 31.6 TNF LORICRIN IVL IL4 FLG
32 seborrheic dermatitis 31.4 SPINK5 FLG DSG1
33 pyoderma 31.4 TNF DSG3 DSG1
34 hidradenitis 31.4 TNF KRT14 KRT10
35 ichthyosis vulgaris 31.4 TGM1 SPINK5 LORICRIN KRT14 KRT10 IVL
36 food allergy 31.4 TNF SPINK5 IL4 FLG
37 autoimmune disease 31.4 TNF IL4 DSG3 DSG1 COL17A1
38 allergic contact dermatitis 31.3 TNF IL4 FLG
39 autosomal recessive congenital ichthyosis 31.3 TGM1 SPINK5 LORICRIN KRT14 KRT10 IVL
40 keratoacanthoma 31.3 KRT14 KRT10 IVL FLG DSG1
41 basal cell carcinoma 31.3 TNF LAMC2 KRT14 KRT10 IVL DST
42 pemphigus foliaceus 31.2 DST DSG3 DSG1
43 alopecia areata 31.2 TNF IL4 FLG
44 epidermolysis bullosa simplex 31.1 LORICRIN KRT14 KRT10 IVL FLG DST
45 papilloma 31.1 KRT14 KRT10 IVL IL4 FLG
46 palmoplantar keratosis 31.1 LORICRIN KRT10 DSG1
47 epidermolysis bullosa dystrophica 31.1 LAMC2 KRT14 IVL FLG DST COL7A1
48 epidermolysis bullosa acquisita 31.1 LAMC2 DST COL7A1 COL17A1
49 tinea corporis 31.0 SPINK5 FLG DSG3
50 discoid lupus erythematosus 31.0 KRT10 IVL 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.5 ABCA12 COL7A1 DSG3 IL4 KRT14 LAMC2
2 integument MP:0010771 9.36 ABCA12 CLCN6 COL7A1 DSG1 DSG3 IL4

Drugs & Therapeutics for Skin Disease

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

(show top 50) (show all 382)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
2
Clobetasol Approved, Experimental, Investigational Phase 4 25122-46-7, 25122-41-2 32798 5311051
3
Omalizumab Approved, Investigational Phase 4 242138-07-4
4
Povidone Approved Phase 4 9003-39-8 131751496
5
Ethanol Approved Phase 4 64-17-5 702
6
Povidone-iodine Approved Phase 4 25655-41-8
7
Iodine Approved, Investigational Phase 4 7553-56-2 807
8
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
9
Phenylpropanolamine Approved, Vet_approved, Withdrawn Phase 4 14838-15-4 26934
10
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
11
Salicylic acid Approved, Investigational, Vet_approved Phase 4 69-72-7 338
12
Ceftaroline fosamil Approved, Investigational Phase 4 229016-73-3
13
Simethicone Approved Phase 4 8050-81-5
14
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
15
Ampicillin Approved, Vet_approved Phase 4 69-53-4 6249
16
Sulbactam Approved Phase 4 68373-14-8
17
Sultamicillin Approved, Investigational Phase 4 76497-13-7
18
Oritavancin Approved, Investigational Phase 4 171099-57-3 16129632
19
Histamine Approved, Investigational Phase 4 51-45-6, 75614-87-8 774
20
Ibuprofen Approved Phase 4 15687-27-1 3672
21
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
22
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
23
Fluticasone Approved, Experimental Phase 4 90566-53-3 62924
24
Propranolol Approved, Investigational Phase 4 525-66-6 4946
25
Polihexanide Approved, Investigational Phase 4 28757-47-3
26
Fluorouracil Approved Phase 4 51-21-8 3385
27
Fexofenadine Approved, Investigational Phase 4 83799-24-0 3348
28
Bacitracin Approved, Vet_approved Phase 4 1405-87-4 439542 10909430
29
Warfarin Approved Phase 4 81-81-2 6691 54678486
30
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
31
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
32
Mupirocin Approved, Investigational, Vet_approved Phase 4 12650-69-0 446596
33
Retapamulin Approved Phase 4 224452-66-8 6918462
34
Ciclopirox Approved, Investigational Phase 4 29342-05-0 2749
35
Amorolfine Approved, Investigational Phase 4 78613-35-1
36
Polidocanol Approved Phase 4 9002-92-0
37
carbamide peroxide Approved Phase 4 124-43-6
38
Bifonazole Approved, Investigational Phase 4 60628-96-8 2378
39
Sodium citrate Approved, Investigational Phase 4 68-04-2
40
Kinetin Approved Phase 4 525-79-1 3830
41
Tocopherol Approved, Investigational Phase 4 1406-66-2
42
Brodalumab Approved, Investigational Phase 4 1174395-19-7
43
Ixekizumab Approved, Investigational Phase 4 1143503-69-8
44
Vancomycin Approved Phase 4 1404-90-6 441141 14969
45
Dalbavancin Approved, Investigational Phase 4 171500-79-1, 91097-81-3 122186
46
Benzoyl peroxide Approved Phase 4 94-36-0 7187
47
Levoleucovorin Approved, Investigational Phase 4 68538-85-2 149436
48
Dapsone Approved, Investigational Phase 4 80-08-0 2955
49
Chlorhexidine Approved, Vet_approved Phase 4 55-56-1 9552079 2713
50
Zinc oxide Approved Phase 4 1314-13-2

Interventional clinical trials:

(show top 50) (show all 435)
# 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 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
3 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
4 An Open Label Case Series on the Effects of Xolair (Omalizumab) in Bullous Pemphigoid Completed NCT00472030 Phase 4 Omalizumab;prednisone
5 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
6 Phase 4 Study of Assessment of Needs of Moisturizers After Various Laser Treatment Completed NCT01742247 Phase 4
7 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
8 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)
9 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
10 Skin and Soft Tissue Infection (SSTI) Study Completed NCT02600871 Phase 4 Provodine
11 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
12 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
13 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
14 Effect of Chlorhexidine Skin Cleansing on Skin Flora of Newborn Infants in Bangladesh Completed NCT00198679 Phase 4 Chlorhexidine
15 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)
16 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
17 A Comparison of NSAIDs for Acute, Non-radicular Low Back Pain. A Randomized Trial Completed NCT03861611 Phase 4 Ketorolac;Ibuprofen;Diclofenac
18 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
19 Surgical Hand Antisepsis With Propan-ol-1 60% Per Rubbing and Scrubbing in Accordance With European Norm Regulation 12791 Completed NCT04446923 Phase 4 Hand antisepsis by scrub;Hand antisepsis by scrub
20 Efficacy of Intraoperative Surgical Scrubbing in Reducing Bacterial Load After Nail Removal Surgery Completed NCT01330706 Phase 4 Polihexanide
21 Topical Emollient Therapy for Prevention of Infections in Preterm Infants Completed NCT00162747 Phase 4 Aquaphor;Sunflower Seed Oil
22 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®
23 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
24 Randomized Clinical Trial of Wound Packing Following Incision and Drainage of Superficial Skin Abscesses in the Pediatric Emergency Department Completed NCT00746109 Phase 4
25 CSP #562 - The VA Keratinocyte Carcinoma Chemoprevention Trial Completed NCT00847912 Phase 4 5-fluorouracil;Placebo, vehicle control
26 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
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 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
29 A Randomized Trial to Evaluate a Staphylococcus Eradication Protocol for Patients Who Present to the Emergency Department With Cutaneous Abscess Completed NCT01537783 Phase 4 Chlorhexidine gluconate;Mupirocin
30 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
31 Evaluation of Daptomycin for the Emergency Department Treatment of Complicated Skin and Skin Structure Infections Completed NCT01549613 Phase 4 Daptomycin;Vancomycin
32 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
33 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%
34 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
35 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
36 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
37 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
38 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
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 The Use of Medical Grade Honey in the Prevention of Bone Anchored Hearing Aid Associated Skin Breakdown Completed NCT03929224 Phase 4 Medicinal honey and bacitracin;Bacitracin
41 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
42 Development of a New Critical Pathway for Treatment of Acute Bacterial Skin and Skin Structure Infections Completed NCT03233438 Phase 4 Dalbavancin;Usual Care
43 A Randomized, Multicenter 28 Week Study to Compare the Efficacy and Safety of Combining Cosentyx (Secukinumab) (4-weekly, 300 mg s.c.) With a Lifestyle Intervention to Cosentyx Therapy Alone in Adult Patients With Moderate to Severe Plaque-type Psoriasis and Concomitant Metabolic Syndrome, Followed by a 28 Week Extension Period Recruiting NCT03440736 Phase 4 Secukinumab
44 Dose Reduction of the New Generation Biologicals (IL17 and IL23 Inhibitors) in Psoriasis: A Pragmatic, Multicentre, Randomized, Controlled, Non-inferiority Study - BeNeBio Study Recruiting NCT04340076 Phase 4 Secukinumab;Ixekizumab;Brodalumab;Guselkumab;Risankizumab;Tildrakizumab
45 Predicting Inflammatory Skin Disease Response to IL-23 Blockade Recruiting NCT04541329 Phase 4
46 Hospital Avoidance Strategies for Treatment of Acute Bacterial Skin and Skin Structure Infection (ABSSSI) Recruiting NCT03372941 Phase 4 Dalbavancin
47 The Effect of Anti-bacterial Honey Dressing on the Healing of Split Thickness Skin Graft Donor Site Recruiting NCT02400372 Phase 4
48 A Study of Efficacy of Benzoyl Peroxide Regimens in Treatment of Unpleasant Foot Odor Recruiting NCT04000347 Phase 4 2.5% benzoyl peroxide gel;5% benzoyl peroxide gel
49 An Open-label Study to Investigate the Efficacy and Tolerability of Aczone Gel, 7.5% in the Treatment of Acne Vulgaris in Men and Women With Skin of Color Active, not recruiting NCT03681470 Phase 4 Aczone Gel
50 A Study of Efficacy of Chlorhexidine Scrub, ZnO Nanoparticles Socks and the Combination of Chlorhexidine Scrub and ZnO Nanoparticles Socks for Prevention of Pitted Keratolysis Not yet recruiting NCT04337749 Phase 4 Chorhexidine scrub

Search NIH Clinical Center for Skin Disease

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


alitretinoin
Botulinum Toxin Type A
Gotu Kola Extract
GOTU KOLA LIQUID
Menthol
MENTHOL CRYSTALS
prednisolone
prednisolone acetate
PREDNISOLONE ACETATE PWDR
PREDNISOLONE PWDR
Prednisolone sodium phosphate
prednisolone tebutate
Prednisone
PREDNISONE PWDR

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:

19
Skin

MalaCards organs/tissues related to Skin Disease:

40
Skin, T Cells, Endothelial, Neutrophil, Bone, Bone Marrow, Eye

Publications for Skin Disease

Articles related to Skin Disease:

(show top 50) (show all 24290)
# Title Authors PMID Year
1
Activation of vascular endothelial growth factor receptor 2 in a cellular model of loricrin keratoderma. 54 61
20236940 2010
2
Neurotrophins in healthy and diseased skin. 61 54
20467394 2010
3
MAP17 is associated with the T-helper cell cytokine-induced down-regulation of filaggrin transcription in human keratinocytes. 61 54
19601982 2010
4
Complex gene-chemical interactions: hepatic uroporphyria as a paradigm. 61 54
20099833 2010
5
[Production of interleukin-8 by circulating CLA+ T cells with skin tropism in patients with psoriasis and in healthy controls]. 54 61
20223157 2010
6
Tumor necrosis factor alpha blockade exacerbates murine psoriasis-like disease by enhancing Th17 function and decreasing expansion of Treg cells. 61 54
20112373 2010
7
EKV mutant connexin 31 associated cell death is mediated by ER stress. 61 54
19755382 2009
8
Th22 cells represent a distinct human T cell subset involved in epidermal immunity and remodeling. 61 54
19920355 2009
9
Connexin-26 mutations in deafness and skin disease. 61 54
19939300 2009
10
Adverse cutaneous reactions induced by TNF-alpha antagonist therapy. 61 54
19864977 2009
11
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
12
Design and validation of a conformation-sensitive capillary electrophoresis system for mutation identification of the COL7A1 gene with automated peak comparison. 54 61
19814614 2009
13
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. 61 54
19576177 2009
14
Reddish, scaly, and itchy: how proteases and their inhibitors contribute to inflammatory skin diseases. 61 54
19688185 2009
15
Anti-desmoglein 1 antibodies in healthy related and unrelated subjects and patients with pemphigus foliaceus in endemic and non-endemic areas from Tunisia. 61 54
19453789 2009
16
A distinct profile of serum levels of soluble intercellular adhesion molecule-1 and intercellular adhesion molecule-3 in mycosis fungoides and Sézary syndrome. 61 54
19615537 2009
17
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
18
Association between a common IL10 distal promoter haplotype and IgE production in individuals with atopic dermatitis. 61 54
19552724 2009
19
Bullous congenital ichthyosiform erythroderma: a sporadic case produced by a new KRT10 gene mutation. 61 54
19689541 2009
20
A functional polymorphism in the SPINK5 gene is associated with asthma in a Chinese Han Population. 54 61
19534795 2009
21
PKA-induced F-actin rearrangement requires phosphorylation of Hsp27 by the MAPKAP kinase MK5. 61 54
19166925 2009
22
Connexin mutations causing skin disease and deafness increase hemichannel activity and cell death when expressed in Xenopus oocytes. 54 61
18987669 2009
23
Loss of serum response factor in keratinocytes results in hyperproliferative skin disease in mice. 61 54
19307725 2009
24
Knuckle pads, in an epidermal palmoplantar keratoderma patient with Keratin 9 R163W transgrediens expression. 61 54
19106041 2009
25
Efalizumab binding to the LFA-1 alphaL I domain blocks ICAM-1 binding via steric hindrance. 61 54
19258452 2009
26
Functional characterization of IL-17F as a selective neutrophil attractant in psoriasis. 61 54
18830271 2009
27
Connexin mutations in Brazilian patients with skin disorders with or without hearing loss. 54 61
19283857 2009
28
Keratinocytes enriched for epidermal stem cells differ in their response to IFN-gamma from other proliferative keratinocytes. 61 54
18557928 2008
29
TNF-alpha stimulates Akt by a distinct aPKC-dependent pathway in premalignant keratinocytes. 54 61
18557926 2008
30
Desquamative enteropathy and pyloric atresia without skin disease caused by a novel intracellular beta4 integrin mutation. 54 61
18955862 2008
31
Th17 cytokines interleukin (IL)-17 and IL-22 modulate distinct inflammatory and keratinocyte-response pathways. 54 61
18684158 2008
32
Reactive oxygen species in tumor necrosis factor-alpha-activated primary human keratinocytes: implications for psoriasis and inflammatory skin disease. 61 54
18463678 2008
33
Novel immunological approaches in the treatment of atopic eczema. 61 54
18769195 2008
34
CD40 expression on antigen presenting cells and correlation with disease severity in atopic dermatitis. 54 61
18693155 2008
35
TGF-beta-dependent suppressive function of Tregs requires wild-type levels of CD18 in a mouse model of psoriasis. 61 54
18521187 2008
36
Efficacy and safety of TNF-blocker therapy in systemic lupus erythematosus. 54 61
18613805 2008
37
An eosinophil immune response characterizes the inflammatory skin disease observed in Tie-2 transgenic mice. 61 54
18443190 2008
38
Microbicidal protein psoriasin is a multifunctional modulator of neutrophil activation. 54 61
18194266 2008
39
Psoriatic skin lesions induced by tumor necrosis factor antagonist therapy: a literature review and potential mechanisms of action. 54 61
18576309 2008
40
A novel M163L mutation in connexin 26 causing cell death and associated with autosomal dominant hearing loss. 54 61
18472371 2008
41
[Biological treatment of psoriasis and psoriatic arthritis]. 61 54
18565300 2008
42
IgE antibody responses in young children with atopic dermatitis. 54 61
18422892 2008
43
Antimicrobial peptides, skin infections, and atopic dermatitis. 61 54
18620136 2008
44
Filaggrin mutations, atopic eczema, hay fever, and asthma in children. 61 54
18396323 2008
45
Targeted deletion of the murine corneodesmosin gene delineates its essential role in skin and hair physiology. 54 61
18436651 2008
46
5' trans-splicing repair of the PLEC1 gene. 61 54
17989727 2008
47
A skin microRNA promotes differentiation by repressing 'stemness'. 47
18311128 2008
48
Thematic review series: skin lipids. Peroxisome proliferator-activated receptors and liver X receptors in epidermal biology. 61 54
18182682 2008
49
Preliminary validation and clinical meaning of the Cutaneous Assessment Tool in juvenile dermatomyositis. 61 54
18240194 2008
50
Closing the gap on autosomal dominant connexin-26 and connexin-43 mutants linked to human disease. 54 61
18089569 2008

Variations for Skin Disease

ClinVar genetic disease variations for Skin Disease:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COL7A1 NM_000094.3(COL7A1):c.2005C>T (p.Arg669Ter) SNV Pathogenic 374052 rs780261665 GRCh37: 3:48627691-48627691
GRCh38: 3:48590258-48590258
2 COL7A1 NM_000094.3(COL7A1):c.425A>G (p.Lys142Arg) SNV Pathogenic 29636 rs121912856 GRCh37: 3:48630971-48630971
GRCh38: 3:48593538-48593538
3 FLG-AS1 , FLG NM_002016.1(FLG):c.544A>T (p.Lys182Ter) SNV Pathogenic 523448 rs1218912272 GRCh37: 1:152286818-152286818
GRCh38: 1:152314342-152314342
4 CLCN6 NM_001286.5(CLCN6):c.1658A>G (p.Tyr553Cys) SNV Pathogenic 974617 GRCh37: 1:11894424-11894424
GRCh38: 1:11834367-11834367
5 COL17A1 NM_000494.4(COL17A1):c.4143_4144AG[1] (p.Glu1382fs) Microsatellite Pathogenic 599000 rs765243124 GRCh37: 10:105793711-105793714
GRCh38: 10:104033953-104033956
6 KRT1 NM_006121.4(KRT1):c.744T>A (p.Asp248Glu) SNV Uncertain significance 523489 rs1555171425 GRCh37: 12:53072388-53072388
GRCh38: 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
1
Show member pathways
12.91 TNF TGM1 SPINK5 LORICRIN KRT14 KRT10
2
Show member pathways
11.78 TGM1 SPINK5 LORICRIN KRT14 KRT10 IVL
3 11.42 KRT14 KRT10 DSG1
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:

# Name GO ID Score Top Affiliating Genes
1 intermediate filament GO:0005882 9.71 KRT14 KRT10 FLG DST
2 cell-cell junction GO:0005911 9.62 DSG3 DSG1 COL17A1 CDSN
3 hemidesmosome GO:0030056 9.37 DST COL17A1
4 desmosome GO:0030057 9.33 DSG3 DSG1 CDSN
5 epidermal lamellar body GO:0097209 9.26 SPINK5 ABCA12
6 basement membrane GO:0005604 9.26 LAMC2 DST COL7A1 COL17A1
7 cornified envelope GO:0001533 9.23 TGM1 LORICRIN KRT10 IVL FLG DSG3

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

# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.91 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 keratinization GO:0031424 9.76 TGM1 LORICRIN KRT14 KRT10 IVL DSG3
5 peptide cross-linking GO:0018149 9.65 TGM1 LORICRIN KRT10 IVL FLG
6 hemidesmosome assembly GO:0031581 9.62 LAMC2 KRT14 DST COL17A1
7 keratinocyte differentiation GO:0030216 9.5 TGM1 LORICRIN KRT10 IVL FLG CDSN
8 positive regulation of protein localization to cell surface GO:2000010 9.48 TNF ABCA12
9 positive regulation of mononuclear cell migration GO:0071677 9.46 TNF IL4
10 cornification GO:0070268 9.32 TGM1 SPINK5 LORICRIN KRT14 KRT10 IVL

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 KRT14 KRT10 FLG DST
2 structural constituent of epidermis GO:0030280 8.8 LORICRIN KRT10 FLG

Sources for Skin Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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