PSORS2
MCID: PSR017
MIFTS: 55

Psoriasis 2 (PSORS2)

Categories: Genetic diseases, Immune diseases, Rare diseases, Skin diseases

Aliases & Classifications for Psoriasis 2

MalaCards integrated aliases for Psoriasis 2:

Name: Psoriasis 2 57 12 74 15 72
Psoriasis Vulgaris 74 72
Psoriasis 74 72
Psors2 57 74
Psoriasis, Susceptibility to, Type 2 40
Pv 74

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variability in age of onset and severity of disease


HPO:

32
psoriasis 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080475
MeSH 44 D011565
MedGen 42 C1864497
UMLS 72 C0033860 C0263361 C1864497

Summaries for Psoriasis 2

UniProtKB/Swiss-Prot : 74 Psoriasis 2: A common, chronic inflammatory disease of the skin with multifactorial etiology. It is characterized by red, scaly plaques usually found on the scalp, elbows and knees. These lesions are caused by abnormal keratinocyte proliferation and infiltration of inflammatory cells into the dermis and epidermis.

MalaCards based summary : Psoriasis 2, also known as psoriasis vulgaris, is related to skin disease and contact dermatitis, and has symptoms including pruritus, exanthema and psoriasiform rash. An important gene associated with Psoriasis 2 is CARD14 (Caspase Recruitment Domain Family Member 14), and among its related pathways/superpathways are T cell receptor signaling pathway and Th1 Differentiation Pathway. The drugs Esomeprazole and Dapsone have been mentioned in the context of this disorder. Affiliated tissues include skin, testes and t cells, and related phenotypes are hyperkeratosis and parakeratosis

Disease Ontology : 12 A psoriasis that has material basis in heterozygous mutation in the CARD14 gene on chromosome 17q25.

More information from OMIM: 602723 PS177900

Related Diseases for Psoriasis 2

Diseases in the Psoriasis family:

Psoriasis 1 Psoriasis 3
Psoriasis 2 Psoriasis 4
Psoriasis 5 Psoriasis 6
Psoriasis 7 Psoriasis 9
Psoriasis 8 Psoriasis 10
Psoriasis 11 Psoriasis 12
Psoriasis 13 Psoriasis 15

Diseases related to Psoriasis 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1248)
# Related Disease Score Top Affiliating Genes
1 skin disease 30.4 TNF KRT16 CARD14
2 contact dermatitis 29.9 TNF KRT16
3 lichen planus 29.9 TNF KRT16
4 pustular psoriasis 29.8 TNF CARD14
5 irritant dermatitis 29.4 TNF KRT16
6 chronic graft versus host disease 29.3 TNF CD4
7 acquired immunodeficiency syndrome 29.3 TNF CD4
8 human immunodeficiency virus infectious disease 29.2 TNF CD4
9 psoriasis 28.8 TNF KRT16 CARD14
10 pneumocystosis 28.8 TNF CD4
11 melkersson-rosenthal syndrome 28.7 TNF CD4
12 guttate psoriasis 12.7
13 psoriasis 15, pustular 12.6
14 psoriasis 4 12.6
15 psoriasis 3 12.6
16 psoriasis 10 12.6
17 psoriasis 6 12.5
18 psoriasis 5 12.5
19 psoriasis 12 12.5
20 psoriasis 8 12.5
21 psoriasis 9 12.5
22 psoriasis 15 12.5
23 polycythemia vera 12.4
24 mental retardation and psoriasis 12.3
25 pustulosis palmaris et plantaris 12.3
26 tranebjaerg svejgaard syndrome 12.1
27 psoriatic juvenile idiopathic arthritis 11.9
28 psoriasis 1 11.9
29 impetigo herpetiformis 11.8
30 juvenile rheumatoid arthritis 11.6
31 geographic tongue 11.6
32 pemphigus 11.5
33 parapsoriasis 11.5
34 pemphigus vulgaris, familial 11.5
35 arthritis 11.5
36 persistent vegetative state 11.5
37 pulmonary valve stenosis 11.5
38 spondyloarthropathy 1 11.5
39 vitiligo-associated multiple autoimmune disease susceptibility 1 11.5
40 psoriasis 14, pustular 11.5
41 subacute cutaneous lupus erythematosus 11.4
42 chronic recurrent multifocal osteomyelitis 11.4
43 temporomandibular ankylosis 11.4
44 singleton-merten syndrome 1 11.2
45 systemic onset juvenile idiopathic arthritis 11.2
46 variegate porphyria 11.2
47 psoriasis 7 11.2
48 psoriasis 11 11.2
49 psoriasis 13 11.2
50 nail disorder, nonsyndromic congenital, 1 11.1

Graphical network of the top 20 diseases related to Psoriasis 2:



Diseases related to Psoriasis 2

Symptoms & Phenotypes for Psoriasis 2

Human phenotypes related to Psoriasis 2:

32
# Description HPO Frequency HPO Source Accession
1 hyperkeratosis 32 HP:0000962
2 parakeratosis 32 HP:0001036
3 scaling skin 32 HP:0040189
4 psoriasiform dermatitis 32 HP:0003765
5 epidermal acanthosis 32 HP:0025092

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin Histology:
hyperkeratosis
parakeratosis
epidermal acanthosis
follicular plugging
alternating orthokeratosis and parakeratosis (in some patients)
more
Skin Nails Hair Skin:
plaque-like scaling skin lesions
erythrodermic psoriasis (in some patients)
pustular psoriasis (in some patients)
skin atrophy, diffuse, in older patients

Skeletal:
arthritis, psoriatic (in some patients)

Clinical features from OMIM:

602723

UMLS symptoms related to Psoriasis 2:


pruritus, exanthema, psoriasiform rash

Drugs & Therapeutics for Psoriasis 2

Drugs for Psoriasis 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 466)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Esomeprazole Approved, Investigational Phase 4 119141-88-7, 161796-78-7, 161973-10-0 9568614 4594
2
Dapsone Approved, Investigational Phase 4 80-08-0 2955
3
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
4
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
5
Clobetasol Approved, Experimental, Investigational Phase 4 25122-46-7, 25122-41-2 32798 5311051
6
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
7
carbamide peroxide Approved Phase 4 124-43-6
8
Fluticasone Approved, Experimental Phase 4 90566-53-3 62924
9
Clocortolone Approved Phase 4 34097-16-0, 4828-27-7 5282493 5311052
10
Mannitol Approved, Investigational Phase 4 69-65-8 453 6251
11
Sodium citrate Approved, Investigational Phase 4 68-04-2
12 Orange Approved Phase 4
13 Strawberry Approved Phase 4
14 Artichoke Approved Phase 4
15
Sorafenib Approved, Investigational Phase 4 284461-73-0 216239 406563
16
Tofacitinib Approved, Investigational Phase 4 477600-75-2
17
Adalimumab Approved Phase 4 331731-18-1 16219006
18
Zinc Approved, Investigational Phase 4 7440-66-6 32051
19
Desoximetasone Approved Phase 4 382-67-2 5311067
20
Certolizumab pegol Approved Phase 4 428863-50-7
21
Mercaptopurine Approved Phase 4 50-44-2 667490
22
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
23
Sotalol Approved Phase 4 959-24-0, 3930-20-9 5253
24
tannic acid Approved Phase 4 1401-55-4
25
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
26 Ixekizumab Approved, Investigational Phase 4 1143503-69-8
27
Metformin Approved Phase 4 657-24-9 4091 14219
28
Ustekinumab Approved, Investigational Phase 4 815610-63-0
29 Vedolizumab Approved Phase 4 943609-66-3
30
Betamethasone Approved, Vet_approved Phase 4 378-44-9 9782
31
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
32
Salicylic acid Approved, Investigational, Vet_approved Phase 4 69-72-7 338
33
Capsaicin Approved Phase 4 404-86-4 1548943
34
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 22737-96-8, 11103-57-4, 68-26-8 9904001 445354
35
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
36
Glycine Approved, Nutraceutical, Vet_approved Phase 4 56-40-6 750
37
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
38
Calcitriol Approved, Nutraceutical Phase 4 32222-06-3 5280453 134070
39 Retinol palmitate Phase 4
40 retinol Phase 4
41 Antiparasitic Agents Phase 4
42 Antiprotozoal Agents Phase 4
43 Antimalarials Phase 4
44 Hydrocortisone 17-butyrate 21-propionate Phase 4
45 Hydrocortisone hemisuccinate Phase 4
46 Hydrocortisone-17-butyrate Phase 4
47 Chlorpheniramine, phenylpropanolamine drug combination Phase 4
48 Omega 3 Fatty Acid Phase 4
49 Chelating Agents Phase 4
50 Tin Fluorides Phase 4

Interventional clinical trials:

(show top 50) (show all 1555)
# Name Status NCT ID Phase Drugs
1 A Phase4,Multicenter, Randomized,Double-blind,Double Dummy, Parallel Controlled Study Evaluating the Efficacy and Safety of Triptergium Wilfordii and Acitretin in Treatment of Chinese Patients With Moderate to Severe Psoriasis Vulgaris Unknown status NCT01443338 Phase 4 Triptergium Wilfordii;Acitretin
2 The Influence of Adalimumab vs. Fumaric Acid Esters on Cardiovascular and Metabolic Risk Factors in the Therapy of Patients With Moderate to Severe Psoriasis Vulgaris Unknown status NCT01088165 Phase 4 Adalimumab treatment arm;Fumaric acid esters treatment group
3 An Open Label Trial to Show That Subjects With Severe Plaque-Type Psoriasis Receiving Acitretin 25 mg/Day And Stabilized On A Photochemotherapy Regimen Who Are Experiencing Retinoid-Related Adverse Events, Benefit From A Reduction In Acitretin Dose to 17.5 mg/Day, While Maintaining Comparable Efficacy Along With Improved Tolerability Unknown status NCT01228409 Phase 4 Acitretin 17.5 mg/day
4 Improvement in the Quality of Life of Patients With Severe Plaque Psoriasis Treated With Systemic Methotrexate in Fixed Doses of 10mg or 25mg Orally Once Weekly: a Prospective, Randomized, Double-blind, Parallel Group Study. Unknown status NCT02248792 Phase 4 Methotrexate
5 The Difference of Circulating Endothelial-derived and Platelet-derived Microparticles in Patients With Psoriasis Successfully Treated With Stelara(Ustekinumab) Unknown status NCT02693470 Phase 4 Ustekinumab
6 Proton Pump Inhibitors Use in Patients With Psoriasis Unknown status NCT02624544 Phase 4 esomeprazole;desonide
7 Phase IV Study on Efficacy and Safety of the Combination Treatment Acitretin and Efalizumab in Moderate to Severe Chronic Plaque Psoriasis Unknown status NCT00707070 Phase 4 efalizumab plus placebo;efalizumab plus acitretin
8 Efficacy of Combined Fractional Carbon Dioxide Laser and Topical Tazarotene in the Treatment of Psoriatic: Nail Disease a Single-blind, Intrapatient Left-to-right Controlled Study. Unknown status NCT03263624 Phase 4 Tazarotene Cream 0.1%
9 An Open-label Study to Evaluate the Efficacy of Re-treatment for Patients With a History of Etanercept Use Unknown status NCT01132235 Phase 4
10 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
11 A Double - Blind, Placebo Controlled Crossover Study to Evaluate The Efficacy and Tolerability of Stelara ™ (Ustekinumab) in The Treatment of Scalp Psoriasis Unknown status NCT01558310 Phase 4 Ustekinumab;Placebo
12 Evaluation of Lymphocytic Infiltrate, Dendritic Cells and Cytokines Expression in Psoriatic Lesion and Normal Skin Before and After Adalimumab Therapy Unknown status NCT01237262 Phase 4 Adalimumab, etanercept, infliximab
13 Sensitivity and Specificity of QuantiFeron -TB Gold Test (QFT-G)in Comparison With Tuberculin Skin Test in Patients With Psoriasis and Psoriatic Arthritis Unknown status NCT01223976 Phase 4
14 The Effect of Vitamin A Supplementation on CD4+ T-cell Secretion in Obese Individuals Unknown status NCT01405352 Phase 4
15 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
16 A Randomised, Double-Blind, Active-Controlled, Parallel, Multi-Center Study to Investigate the Efficacy and Safety of Daivobet® Ointment in Patients With Psoriasis Vulgaris Completed NCT00248456 Phase 4 Calcipotriol plus betamethasone dipropionate ointment
17 A Trial That Compound Clobetasol Propionate Ointment Treats Patients With Mild to Moderate Psoriasis Vulgaris. Completed NCT02733874 Phase 4 Compound Clobetasol Propionate Ointment;Calcipotriol Betamethasone Ointment
18 Different Treatment Regimens of Calcipotriol Cream and Combination (Calcipotriol/Betamethasone Dipropionate) Ointment in Psoriasis Vulgaris Completed NCT00216892 Phase 4 Calcipotriol, (calcipotriol + betamethasone)
19 Long-term Treatment of Scalp Psoriasis With Xamiol® Gel in a Large Adult Chinese Population Completed NCT02533973 Phase 4 Xamiol® gel;Daivonex® scalp solution
20 Investigator Initiated Study for Optimal Maintenance Treatment With Calcipotriol /Betamethasone Dipropionate Gel in Korean Patients With Psoriasis Vulgaris Completed NCT02004574 Phase 4 Calcipotriol/betamethasone dipropionate gel
21 A Phase 4 Trial Comparing the Efficacy of Subcutaneous Injections of Brodalumab to Oral Administrations of Fumaric Acid Esters in Adults With Moderate to Severe Plaque Psoriasis Completed NCT03331835 Phase 4 Fumaric acid esters
22 A Randomized Study Combining Etanercept and Short Courses of Narrow-Band UVB in Patients With Psoriasis Vulgaris Completed NCT00640393 Phase 4 Etanercept
23 Patient Preference of Taclonex Ointment to Taclonex Scalp Suspension in Adult Subjects With Psoriasis Vulgaris Completed NCT01707043 Phase 4 Taclonex
24 A Preliminary, Open Label, Single-arm Study to Determine the Efficacy of Taclonex Topical Suspension as a Supplement to Non-biologic Systemic Therapy Completed NCT01761019 Phase 4 Taclonex Topical Suspension
25 An Investigator-Initiated, Assessor Blinded, Randomized Study Comparing the Mechanism of Action of Adalimumab to Methotrexate in Subjects With Moderate to Severe Chronic Plaque Psoriasis. Completed NCT00932113 Phase 4 Methotrexate;Adalimumab (Humira)
26 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
27 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
28 A Randomized, Open Label Study to Evaluate the Safety and Efficacy of Etanercept in the Treatment of Subjects With Psoriasis Completed NCT00195507 Phase 4 Etanercept
29 Canadian Assessment of Patient Outcomes and Effectiveness of Enbrel (Etanercept) in Psoriasis Completed NCT00332332 Phase 4
30 A Randomized, Double-Blind Trial Assessing the Efficacy and Safety of Etanercept 50 mg Twice Weekly and Etanercept 50 mg Once Weekly for the Treatment of Moderate to Severe Psoriasis Completed NCT00663052 Phase 4 Etanercept;Etanercept
31 Subject Reported Target-lesion Numeric Rating Scale Evaluation by Subjects With Plaque Psoriasis Treated With Clobex® (Clobetasol Propionate) Spray 0.05% Completed NCT01893567 Phase 4 Clobex Spray
32 A Multicenter, Open-label, Randomized, Pilot-study to Evaluate the Efficacy and Safety of the Combination of Etanercept (ETN) and Methotrexate and of Etanercept (ETN) Alone in Patients With Plaque Psoriasis Despite Methotrexate Therapy Completed NCT00161655 Phase 4 Etanercept;Methotrexate
33 A Randomized Pilot Study Evaluating the Efficacy and Safety of Etanercept in Patients With Moderate to Severe Plaque Psoriasis After Cessation of Ciclosporin Therapy Completed NCT00581555 Phase 4 Etanercept
34 Optimizing Psoriasis Treatment of Etanercept Combined Methotrexate: a Phase IV, Multicenter, Randomized, Double-blind, Controlled Trial Completed NCT02313922 Phase 4 etanercept combined with methotrexate or etanercept combined with placebo
35 An Open-Label Phase 4 Study in Adult Patients With Chronic Plaque Psoriasis to Evaluate the Immune Response to Pneumococcal Vaccine in Subjects Treated With Alefacept Completed NCT00493324 Phase 4 alefacept;polyvalent pneumococcal vaccine
36 Elocon vs Fluticasone in Localized Psoriasis Completed NCT00763529 Phase 4 Mometasone;Fluticasone
37 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
38 Evaluating Safety in Patients With Moderate to Severe Psoriasis Treated With Etanercept Completed NCT00581165 Phase 4 Etanercept
39 Efficacy and Safety of Alefacept in Combination With Narrow-band UVB (nbUVB) Compared to Alefacept Alone in Subjects With Moderate to Severe Chronic Plaque Psoriasis Completed NCT00658606 Phase 4 alefacept
40 An Open-Label, Study Evaluating Topicort® Topical Spray 0.25% (Desoximetasone) in Patients With Scalp Psoriasis Completed NCT02985736 Phase 4 Topicort Topical Spray
41 A Multicentre, Open Label Phase IIIb/IV Study of Subcutaneously Administered Raptiva in the Treatment of Adult Subjects With Moderate to Severe Plaque Psoriasis Completed NCT00287118 Phase 4 Efalizumab
42 An Open-Label, Multicenter Study of the Efficacy of Cloderm® Cream (Clocortolone Pivalate, 0.1%) in the Treatment of Moderate Plaque Psoriasis for 28 Days Completed NCT01714544 Phase 4 Cloderm Cream
43 Safety and Efficacy of Etanercept in Patients With Moderate to Severe Plaque Psoriasis Who Have Shown an Unsatisfactory Response to Adalimumab or Infliximab Completed NCT00967538 Phase 4 etanercept 50 mg
44 An Open Label, Non-comparative, Multicentre, Phase IV Study to Evaluate the Safety, Tolerability and Efficacy of Tinefcon in Patients With Plaque Psoriasis Completed NCT01373567 Phase 4 TINEFCON
45 A Single-Center, Open-Label Study to Assess Change in Psychosocial and Occupational Dimensions With Ustekinumab Treatment of Moderate-to-Severe Psoriasis Evaluated With the Psychological General Well Being (PGWB), Work Productivity and Activity Impairment (WPAI), Psoriasis Quality of Life-12 Items (PQOL-12), and Dermatology Life Quality Index (DLQI) Completed NCT01511315 Phase 4 Ustekinumab
46 A Study to Evaluate the Efficacy and Tolerability of Clobetasol Propionate vs. Vehicle in the Treatment of Mild to Moderate Plaque-Type Psoriasis Completed NCT00842153 Phase 4 Clobetasol propionate foam;Vehicle foam
47 A Single-arm Study to Assess the Immunogenicity and Safety of Etanercept Produced Using a Modified Process in Subjects With Plaque Psoriasis Completed NCT02274792 Phase 4 Etanercept
48 A PHASE IV, RANDOMIZED, DOUBLE-BLIND, PLACEBO-CONTROLLED STUDY OF THE EFFECTS OF USTEKINUMAB ON VASCULAR INFLAMMATION IN PSORIASIS Completed NCT02187172 Phase 4 Ustekinumab;Placebo
49 A Multicenter, Open-Label, Pilot Trial to Evaluate the Effectiveness and Safety of ENBREL(r) in Combination With Narrowband UVB Phototherapy for the Treatment of Psoriasis Completed NCT00110981 Phase 4 Etanerept;Etanercept
50 A Study to Evaluate Safety and Efficacy of Clobetasol Propionate for Treatment of Plaque-Type Psoriasis in Adult Subjects. Completed NCT00852761 Phase 4 Olux-E Foam;Clobex lotion

Search NIH Clinical Center for Psoriasis 2

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


Acitretin
alefacept
Aloe vera preparation
Anthralin
ANTHRALIN PWDR
Betamethasone
Betamethasone acetate
Betamethasone benzoate
betamethasone dipropionate
betamethasone sodium phosphate
Betamethasone valerate
BETAMETHASONE VALERATE PWDR
calcipotriene
Calcitriol
Cholecalciferol
Coal Tar
Coal tar extract
Coal tar pitch volatiles
COAL TAR,COLLOIDAL
COAL TAR,REFINED
Cod Liver Oil
Colloid sulfur
Cyclosporine
Etretinate
Fish Liver Oils
fluocinolone
Fluocinolone Acetonide
hydroxyurea
Methotrexate
Methotrexate Sodium
Methoxsalen
mycophenolate mofetil
mycophenolate mofetil hydrochloride
Salicylic Acid
SALICYLIC ACID PWDR
Sulfur
SULFUR PWDR
SULFUR,COLLOIDAL
tazarotene
Thioguanine
Trioxsalen

Genetic Tests for Psoriasis 2

Anatomical Context for Psoriasis 2

MalaCards organs/tissues related to Psoriasis 2:

41
Skin, Testes, T Cells, Endothelial, Bone, Liver, Monocytes

Publications for Psoriasis 2

Articles related to Psoriasis 2:

(show top 50) (show all 80)
# Title Authors PMID Year
1
Rare and common variants in CARD14, encoding an epidermal regulator of NF-kappaB, in psoriasis. 38 8 71
22521419 2012
2
PSORS2 is due to mutations in CARD14. 38 8 71
22521418 2012
3
Mapping of psoriasis to 17q terminus. 8 71
15689454 2005
4
Gene for familial psoriasis susceptibility mapped to the distal end of human chromosome 17q. 8 71
8178173 1994
5
PSORS2 markers are not associated with psoriatic arthritis in the Italian population. 38 8
16733365 2006
6
Genetic analysis of PSORS2 markers in a UK dataset supports the association between RAPTOR SNPs and familial psoriasis. 38 8
15173233 2004
7
A putative RUNX1 binding site variant between SLC9A3R1 and NAT9 is associated with susceptibility to psoriasis. 38 8
14608357 2003
8
Novel immunoglobulin superfamily gene cluster, mapping to a region of human chromosome 17q25, linked to psoriasis susceptibility. 38 8
12483297 2003
9
Mutations in IL36RN in patients with generalized pustular psoriasis. 71
23648549 2013
10
A promoter sequence variant of ZNF750 is linked with familial psoriasis. 71
18256691 2008
11
Analysis of RUNX1 binding site and RAPTOR polymorphisms in psoriasis: no evidence for association despite adequate power and evidence for linkage. 8
15923274 2006
12
Analysis of three suggested psoriasis susceptibility loci in a large Swedish set of families: confirmation of linkage to chromosome 6p (HLA region), and to 17q, but not to 4q. 8
9858851 1999
13
Evidence for two psoriasis susceptibility loci (HLA and 17q) and two novel candidate regions (16q and 20p) by genome-wide scan. 8
9259283 1997
14
Confirmation of genetic heterogeneity in familial psoriasis. 8
7562968 1995
15
Scanning chromosome 17 for psoriasis susceptibility: lack of evidence for a distal 17q locus. 8
7558055 1995
16
Sustained Efficacy of Secukinumab in Subjects with Moderate-to-Severe Palmoplantar Psoriasis: 2·5-Year Results from GESTURE, a Randomized, Double-blind, Placebo-controlled Trial. 38
31286480 2019
17
The economic burden of psoriasis with high comorbidity among privately insured patients in the United States. 38
30523738 2019
18
Epidemiology and dermatological comorbidity of seborrhoeic dermatitis: population-based study in 161 269 employees. 38
30802934 2019
19
Using Neural Networks for Diagnosing in Dermatology. 38
31156118 2019
20
Ponesimod, a selective sphingosine 1-phosphate (S1P1) receptor modulator for autoimmune diseases: review of clinical pharmacokinetics and drug disposition. 38
28489480 2018
21
TNF blockade induces a dysregulated type I interferon response without autoimmunity in paradoxical psoriasis. 38
29295985 2018
22
Clinical and Genetic Heterogeneity of CARD14 Mutations in Psoriatic Skin Disease. 38
30386326 2018
23
National Psoriasis Foundation Priorities for Patient-Centered Research: Proceedings from the 2016 Conference. 38
28825055 2017
24
CB2-63 polymorphism and immune-mediated diseases associated with HCV chronic infection. 38
27476469 2016
25
Treatment of plaque psoriasis with an ointment formulation of the Janus kinase inhibitor, tofacitinib: a Phase 2b randomized clinical trial. 38
27716172 2016
26
Photodynamic therapy effect on cell growth inhibition induced by Radachlorin and toluidine blue O on Staphylococcus aureus and Escherichia coli: An in vitro study. 38
27435750 2016
27
Sarcoidosis associated with psoriasis: 2 disease entities, one pathogenic pathway. 38
26947525 2016
28
[Clinical analysis of cutaneous manifestations and related factors in patients with ulcerative colitis]. 38
27373283 2016
29
Use of biologics for psoriasis in Central and Eastern European countries. 38
26370506 2015
30
The routine use of iron stain for biopsies of dermatoses of the legs. 38
24517257 2015
31
Generalized pustular psoriasis following allogeneic stem cell transplantation. 38
25472781 2015
32
Immunohistochemical expression of MCM2 in nonmelanoma epithelial skin cancers. 38
24936676 2014
33
Metabolic syndrome in patients with psoriasis: A comparative study. 38
24860744 2014
34
CARD14 expression in dermal endothelial cells in psoriasis. 38
25369198 2014
35
SNP rs11652075 in the CARD14 gene as a risk factor for psoriasis (PSORS2) in a Spanish cohort. 38
23905699 2013
36
Immunogenicity of monoclonal antibodies against tumor necrosis factor used in chronic immune-mediated Inflammatory conditions: systematic review and meta-analysis. 38
23797343 2013
37
A review of the clinical variants and the management of psoriasis. 38
23669329 2013
38
Genome-wide linkage scan for psoriasis susceptibility loci in multiplex Tunisian families. 38
23013406 2013
39
[Molecular identification of the PSORS2 locus: mutations and polymorphisms in CARD14 gene]. 38
23328365 2013
40
A Delphi Consensus Approach to Challenging Case Scenarios in Moderate-to-Severe Psoriasis: Part 2. 38
23205325 2012
41
Obesity and the risk of psoriatic arthritis: a population-based study. 38
22586165 2012
42
Role of cellular oxidative stress and cytochrome c in the pathogenesis of psoriasis. 38
22421888 2012
43
Five cases of anti-tumor necrosis factor alpha-induced psoriasis presenting with severe scalp involvement in children. 38
21995665 2012
44
Familial pityriasis rubra pilaris is caused by mutations in CARD14. 38
22703878 2012
45
Prevalence of metabolic syndrome in patients with psoriasis: a population-based study in the United Kingdom. 38
22113483 2012
46
Prevalence of skin lesions and need for treatment in a cohort of 90 880 workers. 38
21623753 2011
47
Vitamin D status in psoriasis patients during different treatments with phototherapy. 38
20579901 2010
48
Excimer laser for psoriasis: a review of theories regarding enhanced efficacy over traditional UVB phototherapy. 38
17763609 2007
49
Diagnostic dilemma: crusted scabies superimposed on psoriatic erythroderma in a patient with acquired immunodeficiency syndrome. 38
17483659 2007
50
Seborrhea-like dermatitis with psoriasiform elements caused by a mutation in ZNF750, encoding a putative C2H2 zinc finger protein. 38
16751772 2006

Variations for Psoriasis 2

ClinVar genetic disease variations for Psoriasis 2:

6 (show top 50) (show all 141)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CARD14 NM_001366385.1(CARD14): c.349G> A (p.Gly117Ser) single nucleotide variant Pathogenic rs281875215 17:78156589-78156589 17:80182790-80182790
2 CARD14 NM_001366385.1(CARD14): c.349+5G> A single nucleotide variant Pathogenic rs587777763 17:78156594-78156594 17:80182795-80182795
3 CARD14 NM_001366385.1(CARD14): c.425A> G (p.Glu142Gly) single nucleotide variant Pathogenic rs281875213 17:78157787-78157787 17:80183988-80183988
4 CARD14 NM_001366385.1(CARD14): c.424G> A (p.Glu142Lys) single nucleotide variant Pathogenic rs281875212 17:78157786-78157786 17:80183987-80183987
5 CARD14 NM_001366385.1(CARD14): c.1778T> A (p.Ile593Asn) single nucleotide variant Uncertain significance rs281875220 17:78172317-78172317 17:80198518-80198518
6 CARD14 NM_001366385.1(CARD14): c.536G> A (p.Arg179His) single nucleotide variant Uncertain significance rs199517469 17:78157898-78157898 17:80184099-80184099
7 CARD14 NM_001366385.1(CARD14): c.1805C> T (p.Ser602Leu) single nucleotide variant Uncertain significance rs201285077 17:78172344-78172344 17:80198545-80198545
8 CARD14 NM_001366385.1(CARD14): c.2483G> A (p.Arg828Gln) single nucleotide variant Uncertain significance rs147592804 17:78178918-78178918 17:80205119-80205119
9 CARD14 NM_001366385.1(CARD14): c.2606A> G (p.Gln869Arg) single nucleotide variant Uncertain significance rs529691290 17:78179366-78179366 17:80205567-80205567
10 CARD14 NM_001366385.1(CARD14): c.2641G> A (p.Gly881Arg) single nucleotide variant Uncertain significance rs548495951 17:78179401-78179401 17:80205602-80205602
11 CARD14 NM_001366385.1(CARD14): c.589G> A (p.Glu197Lys) single nucleotide variant Uncertain significance rs200790561 17:78157951-78157951 17:80184152-80184152
12 CARD14 NM_001366385.1(CARD14): c.881C> T (p.Ala294Val) single nucleotide variant Uncertain significance rs139466192 17:78163589-78163589 17:80189790-80189790
13 CARD14 NM_001366385.1(CARD14): c.299A> G (p.Tyr100Cys) single nucleotide variant Uncertain significance rs552779505 17:78156539-78156539 17:80182740-80182740
14 CARD14 NM_001366385.1(CARD14): c.556G> A (p.Ala186Thr) single nucleotide variant Uncertain significance rs190213582 17:78157918-78157918 17:80184119-80184119
15 CARD14 NM_001366385.1(CARD14): c.2191G> A (p.Ala731Thr) single nucleotide variant Uncertain significance rs537086902 17:78176191-78176191 17:80202392-80202392
16 CARD14 NM_001366385.1(CARD14): c.203T> C (p.Met68Thr) single nucleotide variant Uncertain significance rs773633754 17:78155440-78155440 17:80181641-80181641
17 CARD14 NM_001366385.1(CARD14): c.1759G> A (p.Gly587Ser) single nucleotide variant Uncertain significance rs146855402 17:78172298-78172298 17:80198499-80198499
18 CARD14 NM_001366385.1(CARD14): c.2314C> T (p.Arg772Cys) single nucleotide variant Uncertain significance rs577478029 17:78178056-78178056 17:80204257-80204257
19 CARD14 NM_001366385.1(CARD14): c.2888C> T (p.Ala963Val) single nucleotide variant Uncertain significance rs1176488460 17:78182017-78182017 17:80208218-80208218
20 CARD14 NM_001366385.1(CARD14): c.234G> T (p.Lys78Asn) single nucleotide variant Uncertain significance rs143747620 17:78156474-78156474 17:80182675-80182675
21 CARD14 NM_001366385.1(CARD14): c.1370C> T (p.Ser457Leu) single nucleotide variant Uncertain significance rs776782295 17:78169003-78169003 17:80195204-80195204
22 CARD14 NM_001366385.1(CARD14): c.1288C> T (p.Arg430Trp) single nucleotide variant Uncertain significance rs142895605 17:78166350-78166350 17:80192551-80192551
23 CARD14 NM_001366385.1(CARD14): c.1356+4C> T single nucleotide variant Uncertain significance rs373428751 17:78166422-78166422 17:80192623-80192623
24 CARD14 NM_001366385.1(CARD14): c.1046C> T (p.Ala349Val) single nucleotide variant Uncertain significance 17:78164655-78164655 17:80190856-80190856
25 CARD14 NM_001366385.1(CARD14): c.1211G> T (p.Arg404Leu) single nucleotide variant Uncertain significance 17:78165243-78165243 17:80191444-80191444
26 CARD14 NM_001366385.1(CARD14): c.1471G> A (p.Asp491Asn) single nucleotide variant Uncertain significance 17:78169104-78169104 17:80195305-80195305
27 CARD14 NM_024110.4(CARD14): c.1658+9_1658+11delCAG deletion Uncertain significance 17:78171970-78171972 17:80198171-80198173
28 CARD14 NM_001366385.1(CARD14): c.1828C> T (p.Arg610Cys) single nucleotide variant Uncertain significance 17:78172367-78172367 17:80198568-80198568
29 CARD14 NM_001366385.1(CARD14): c.1977C> T (p.Asp659=) single nucleotide variant Uncertain significance 17:78175668-78175668 17:80201869-80201869
30 CARD14 NM_001366385.1(CARD14): c.2315G> A (p.Arg772His) single nucleotide variant Uncertain significance 17:78178057-78178057 17:80204258-80204258
31 CARD14 NM_001366385.1(CARD14): c.545G> A (p.Arg182His) single nucleotide variant Uncertain significance 17:78157907-78157907 17:80184108-80184108
32 CARD14 NM_001366385.1(CARD14): c.615T> C (p.Tyr205=) single nucleotide variant Uncertain significance 17:78157977-78157977 17:80184178-80184178
33 CARD14 NM_001366385.1(CARD14): c.778G> A (p.Gly260Arg) single nucleotide variant Uncertain significance 17:78162278-78162278 17:80188479-80188479
34 CARD14 NM_001366385.1(CARD14): c.827C> A (p.Ser276Ter) single nucleotide variant Uncertain significance 17:78162327-78162327 17:80188528-80188528
35 CARD14 NM_001366385.1(CARD14): c.1927C> T (p.Leu643Phe) single nucleotide variant Uncertain significance 17:78175618-78175618 17:80201819-80201819
36 CARD14 NM_001366385.1(CARD14): c.2279G> A (p.Arg760His) single nucleotide variant Uncertain significance 17:78177680-78177680 17:80203881-80203881
37 CARD14 NM_001366385.1(CARD14): c.843+1G> T single nucleotide variant Uncertain significance 17:78162344-78162344 17:80188545-80188545
38 CARD14 NM_001366385.1(CARD14): c.2353C> T (p.Arg785Cys) single nucleotide variant Uncertain significance 17:78178095-78178095 17:80204296-80204296
39 CARD14 NM_001366385.1(CARD14): c.2476C> T (p.Arg826Trp) single nucleotide variant Uncertain significance 17:78178911-78178911 17:80205112-80205112
40 CARD14 NM_001366385.1(CARD14): c.2517G> C (p.Lys839Asn) single nucleotide variant Uncertain significance 17:78178952-78178952 17:80205153-80205153
41 CARD14 NM_001366385.1(CARD14): c.131G> A (p.Arg44His) single nucleotide variant Uncertain significance 17:78155368-78155368 17:80181569-80181569
42 CARD14 NM_001366385.1(CARD14): c.937G> A (p.Val313Met) single nucleotide variant Uncertain significance 17:78163645-78163645 17:80189846-80189846
43 CARD14 NM_001366385.1(CARD14): c.963+6G> A single nucleotide variant Uncertain significance 17:78163677-78163677 17:80189878-80189878
44 CARD14 NM_001366385.1(CARD14): c.1330G> A (p.Asp444Asn) single nucleotide variant Uncertain significance 17:78166392-78166392 17:80192593-80192593
45 CARD14 NM_001366385.1(CARD14): c.1652C> T (p.Ser551Leu) single nucleotide variant Uncertain significance 17:78171955-78171955 17:80198156-80198156
46 CARD14 NM_001366385.1(CARD14): c.1901C> T (p.Thr634Met) single nucleotide variant Uncertain significance 17:78175592-78175592 17:80201793-80201793
47 CARD14 NM_001366385.1(CARD14): c.2786_2788AGA[1] (p.Lys930del) short repeat Uncertain significance 17:78180866-78180868 17:80207067-80207069
48 CARD14 NM_001366385.1(CARD14): c.35C> T (p.Thr12Met) single nucleotide variant Uncertain significance 17:78155272-78155272 17:80181473-80181473
49 CARD14 NM_001366385.1(CARD14): c.40C> G (p.Leu14Val) single nucleotide variant Uncertain significance 17:78155277-78155277 17:80181478-80181478
50 CARD14 NM_001366385.1(CARD14): c.94C> T (p.Arg32Cys) single nucleotide variant Uncertain significance 17:78155331-78155331 17:80181532-80181532

UniProtKB/Swiss-Prot genetic disease variations for Psoriasis 2:

74
# Symbol AA change Variation ID SNP ID
1 CARD14 p.Gly117Ser VAR_068224 rs281875215
2 CARD14 p.Glu138Ala VAR_068225 rs281875214
3 CARD14 p.Glu142Gly VAR_068226 rs281875213
4 CARD14 p.Glu142Lys VAR_068227 rs281875212
5 CARD14 p.Leu150Arg VAR_068228 rs146214639
6 CARD14 p.Arg69Trp VAR_078583 rs375624435
7 CARD14 p.Glu197Lys VAR_078588 rs200790561

Expression for Psoriasis 2

Search GEO for disease gene expression data for Psoriasis 2.

Pathways for Psoriasis 2

GO Terms for Psoriasis 2

Cellular components related to Psoriasis 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane raft GO:0045121 8.62 TNF CD4

Biological processes related to Psoriasis 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.37 TNF CD4
2 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.32 TNF CD4
3 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.26 TNF CARD14
4 tumor necrosis factor-mediated signaling pathway GO:0033209 9.16 TNF CARD14
5 positive regulation of protein kinase activity GO:0045860 8.96 TNF CD4
6 positive regulation of protein phosphorylation GO:0001934 8.8 TNF CD4 CARD14

Sources for Psoriasis 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
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34 ICD10 via Orphanet
35 ICD9CM
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64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
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