PSORS2
MCID: PSR017
MIFTS: 53

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 56 12 73 15 71
Psoriasis Vulgaris 73 71
Psoriasis 73 71
Psors2 56 73
Psoriasis, Susceptibility to, Type 2 39
Pv 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
variability in age of onset and severity of disease


HPO:

31
psoriasis 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080475
OMIM 56 602723
OMIM Phenotypic Series 56 PS177900
MeSH 43 D011565
MedGen 41 C1864497
UMLS 71 C0033860 C0263361 C1864497

Summaries for Psoriasis 2

UniProtKB/Swiss-Prot : 73 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 psoriasis 10 and psoriasis 5, 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 is Keratinization. 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 psoriasiform dermatitis

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 1274)
# Related Disease Score Top Affiliating Genes
1 psoriasis 10 33.7 LCE3C CARD14
2 psoriasis 5 33.4 CSTA CARD14
3 psoriasis 9 33.3 LCE3C LCE3B CARD14
4 psoriasis 4 33.3 LCE3C LCE3B CARD14
5 psoriasis 6 33.2 LINC02693 FBXL19 CLMN CARD14
6 psoriasis 3 32.6 LINC02693 FBXL19 CLMN CDKAL1 CARD14
7 psoriasis 1 32.2 LCE3C LCE3B CARD14
8 psoriatic arthritis 29.5 LCE3C LCE3B CARD14
9 psoriasis 28.4 LCE3C LCE3B FBXL19 CSTA CARD14
10 guttate psoriasis 12.7
11 psoriasis 15, pustular 12.6
12 psoriasis 12 12.6
13 psoriasis 8 12.6
14 psoriasis 15 12.5
15 polycythemia vera 12.5
16 mental retardation and psoriasis 12.3
17 pustulosis palmaris et plantaris 12.3
18 tranebjaerg svejgaard syndrome 12.1
19 psoriatic juvenile idiopathic arthritis 11.9
20 impetigo herpetiformis 11.8
21 juvenile rheumatoid arthritis 11.7
22 geographic tongue 11.6
23 pemphigus 11.6
24 parapsoriasis 11.6
25 pemphigus vulgaris, familial 11.6
26 arthritis 11.5
27 persistent vegetative state 11.5
28 pulmonary valve stenosis 11.5
29 spondyloarthropathy 1 11.5
30 vitiligo-associated multiple autoimmune disease susceptibility 1 11.5
31 psoriasis 14, pustular 11.5
32 chronic recurrent multifocal osteomyelitis 11.4
33 temporomandibular ankylosis 11.4
34 singleton-merten syndrome 1 11.2
35 rheumatoid factor-negative juvenile idiopathic arthritis 11.2
36 systemic onset juvenile idiopathic arthritis 11.2
37 variegate porphyria 11.2
38 psoriasis 7 11.2
39 psoriasis 11 11.2
40 psoriasis 13 11.2
41 skin disease 11.2
42 nail disorder, nonsyndromic congenital, 1 11.1
43 combined cellular and humoral immune defects with granulomas 11.1
44 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 11.1
45 singleton-merten syndrome 2 11.1
46 primary cutaneous amyloidosis 11.1
47 singleton-merten syndrome 11.1
48 autoimmune disease 10.8
49 polycystic kidney disease 10.7
50 inflammatory bowel disease 10.6

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:

31
# Description HPO Frequency HPO Source Accession
1 hyperkeratosis 31 HP:0000962
2 psoriasiform dermatitis 31 HP:0003765
3 epidermal acanthosis 31 HP:0025092
4 scaling skin 31 HP:0040189
5 parakeratosis 31 HP:0001036

Symptoms via clinical synopsis from OMIM:

56
Skin Nails Hair Skin Histology:
hyperkeratosis
epidermal acanthosis
parakeratosis
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 440)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Esomeprazole Approved, Investigational Phase 4 161796-78-7, 119141-88-7, 161973-10-0 9568614 4594
2
Dapsone Approved, Investigational Phase 4 80-08-0 2955
3
Clobetasol Approved, Experimental, Investigational Phase 4 25122-41-2, 25122-46-7 32798 5311051
4
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
5
carbamide peroxide Approved Phase 4 124-43-6
6
Desoximetasone Approved Phase 4 382-67-2 5311067
7
Fluticasone Approved, Experimental Phase 4 90566-53-3 62924
8
Clocortolone Approved Phase 4 4828-27-7, 34097-16-0 5282493 5311052
9
Sodium citrate Approved, Investigational Phase 4 68-04-2
10
Mannitol Approved, Investigational Phase 4 69-65-8 6251 453
11 Strawberry Approved Phase 4
12 Orange Approved Phase 4
13 Artichoke Approved Phase 4
14
Sorafenib Approved, Investigational Phase 4 284461-73-0 216239 406563
15
Abatacept Approved Phase 4 332348-12-6 10237
16
Zinc Approved, Investigational Phase 4 7440-66-6 32051
17
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
18 Brodalumab Approved, Investigational Phase 4 1174395-19-7
19
Metformin Approved Phase 4 657-24-9 14219 4091
20
Ustekinumab Approved, Investigational Phase 4 815610-63-0
21 Ixekizumab Approved, Investigational Phase 4 1143503-69-8
22 Vedolizumab Approved Phase 4 943609-66-3
23
Cyclophosphamide Approved, Investigational Phase 4 50-18-0, 6055-19-2 2907
24
Sotalol Approved Phase 4 3930-20-9, 959-24-0 5253
25
Tofacitinib Approved, Investigational Phase 4 477600-75-2
26
Adalimumab Approved Phase 4 331731-18-1 16219006
27
Certolizumab pegol Approved Phase 4 428863-50-7
28
Mercaptopurine Approved Phase 4 50-44-2 667490
29
Betamethasone Approved, Vet_approved Phase 4 378-44-9 9782
30
Salicylic acid Approved, Investigational, Vet_approved Phase 4 69-72-7 338
31
Capsaicin Approved Phase 4 404-86-4 1548943
32
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 22737-96-8, 68-26-8, 11103-57-4 9904001 445354
33
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
34
Glycine Approved, Nutraceutical, Vet_approved Phase 4 56-40-6 750
35 Retinol palmitate Phase 4
36 retinol Phase 4
37 Chlorpheniramine, phenylpropanolamine drug combination Phase 4
38 Omega 3 Fatty Acid Phase 4
39 Chelating Agents Phase 4
40 Tin Fluorides Phase 4
41 Heptavalent Pneumococcal Conjugate Vaccine Phase 4
42 Halobetasol Phase 4
43
Chondroitin Phase 4 9007-27-6 53477707
44 Clocortolone pivalate Phase 4
45 Olive Phase 4
46 Citrate Phase 4
47 diuretics Phase 4
48 Anticoagulants Phase 4
49 Lidocaine, Prilocaine Drug Combination Phase 4
50 Pyrithione zinc Phase 4

Interventional clinical trials:

(show top 50) (show all 1686)
# 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 A Randomized Controlled Trial Comparing the Efficacy and Safety Profile of Oral Versus Subcutaneous Route of Methotrexate Administration in Moderate to Severe Psoriasis Unknown status NCT03408756 Phase 4 methotrexate
5 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
6 A Phase 4 Multicenter, Randomized, Placebo-controlled Study Evaluating the Effect of Apremilast on Pruritus and Quality of Life of Patients With Moderate-to-severe Scalp Psoriasis Unknown status NCT03553433 Phase 4 Apremilast 30mg;Placebo Oral Tablet
7 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
8 Proton Pump Inhibitors Use in Patients With Psoriasis Unknown status NCT02624544 Phase 4 esomeprazole;desonide
9 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
10 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%
11 An Open-label Study to Evaluate the Efficacy of Re-treatment for Patients With a History of Etanercept Use Unknown status NCT01132235 Phase 4
12 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
13 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
14 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
15 Home UVB Phototherapy for Psoriasis: Effectiveness, Quality of Life and Cost-Effectiveness Unknown status NCT00150930 Phase 4
16 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
17 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
18 The Effect of Vitamin A Supplementation on CD4+ T-cell Secretion in Obese Individuals Unknown status NCT01405352 Phase 4
19 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
20 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
21 Different Treatment Regimens of Calcipotriol Cream and Combination (Calcipotriol/Betamethasone Dipropionate) Ointment in Psoriasis Vulgaris Completed NCT00216892 Phase 4 Calcipotriol, (calcipotriol + betamethasone)
22 An Extension Study of Brodalumab in Subjects With Plaque Psoriasis (Psoriasis Vulgaris, Psoriatic Arthritis), Pustular Psoriasis (Generalized) and Psoriatic Erythroderma Completed NCT04183881 Phase 4 Brodalumab 210mg SC
23 Long-term Treatment of Scalp Psoriasis With Xamiol® Gel in a Large Adult Chinese Population Completed NCT02533973 Phase 4 Xamiol® gel;Daivonex® scalp solution
24 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
25 A Multicenter Open Label Uncontrolled Study of the Long Term Safety and Efficacy of Calcitriol 3 mcg/g Ointment Applied Twice Daily for 26 Weeks in Pediatric Subjects (2 to 16 Years and 11 mo of Age) With Mild to Moderate Plaque Psoriasis Completed NCT02125279 Phase 4 Calcitriol
26 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
27 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
28 A Randomized Study Combining Etanercept and Short Courses of Narrow-Band UVB in Patients With Psoriasis Vulgaris Completed NCT00640393 Phase 4 Etanercept
29 Patient Preference of Taclonex Ointment to Taclonex Scalp Suspension in Adult Subjects With Psoriasis Vulgaris Completed NCT01707043 Phase 4 Taclonex
30 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
31 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
32 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)
33 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
34 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
35 Canadian Assessment of Patient Outcomes and Effectiveness of Enbrel (Etanercept) in Psoriasis Completed NCT00332332 Phase 4
36 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
37 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
38 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
39 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
40 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
41 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
42 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
43 Elocon vs Fluticasone in Localized Psoriasis Completed NCT00763529 Phase 4 Mometasone;Fluticasone
44 Evaluating Safety in Patients With Moderate to Severe Psoriasis Treated With Etanercept Completed NCT00581165 Phase 4 Etanercept
45 A 24-Week Multicenter, Randomized, Blinded, Parallel-Group Study Comparing the Efficacy and Safety of Ixekizumab to Guselkumab in Patients With Moderate-to-Severe Plaque Psoriasis Completed NCT03573323 Phase 4 Ixekizumab;Guselkumab;Placebo
46 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
47 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
48 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
49 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
50 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

Search NIH Clinical Center for Psoriasis 2

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


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:

40
Skin, Testes, T Cells, Liver, Bone, Endothelial, Monocytes

Publications for Psoriasis 2

Articles related to Psoriasis 2:

(show top 50) (show all 83)
# Title Authors PMID Year
1
Rare and common variants in CARD14, encoding an epidermal regulator of NF-kappaB, in psoriasis. 6 56 61
22521419 2012
2
PSORS2 is due to mutations in CARD14. 61 6 56
22521418 2012
3
Mapping of psoriasis to 17q terminus. 56 6
15689454 2005
4
Gene for familial psoriasis susceptibility mapped to the distal end of human chromosome 17q. 6 56
8178173 1994
5
PSORS2 markers are not associated with psoriatic arthritis in the Italian population. 56 61
16733365 2006
6
Genetic analysis of PSORS2 markers in a UK dataset supports the association between RAPTOR SNPs and familial psoriasis. 56 61
15173233 2004
7
A putative RUNX1 binding site variant between SLC9A3R1 and NAT9 is associated with susceptibility to psoriasis. 56 61
14608357 2003
8
Novel immunoglobulin superfamily gene cluster, mapping to a region of human chromosome 17q25, linked to psoriasis susceptibility. 56 61
12483297 2003
9
Mutations in IL36RN in patients with generalized pustular psoriasis. 6
23648549 2013
10
A promoter sequence variant of ZNF750 is linked with familial psoriasis. 6
18256691 2008
11
Analysis of RUNX1 binding site and RAPTOR polymorphisms in psoriasis: no evidence for association despite adequate power and evidence for linkage. 56
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. 56
9858851 1999
13
Evidence for two psoriasis susceptibility loci (HLA and 17q) and two novel candidate regions (16q and 20p) by genome-wide scan. 56
9259283 1997
14
Scanning chromosome 17 for psoriasis susceptibility: lack of evidence for a distal 17q locus. 56
7558055 1995
15
Confirmation of genetic heterogeneity in familial psoriasis. 56
7562968 1995
16
Gut Microbiome in Psoriasis: An Updated Review. 61
32545459 2020
17
Activated Platelets Induce Endothelial Cell Inflammatory Response in Psoriasis via COX-1. 61
32131611 2020
18
Sustained efficacy of secukinumab in patients with moderate-to-severe palmoplantar psoriasis: 2·5-year results from GESTURE, a randomized, double-blind, placebo-controlled trial. 61
31286480 2020
19
Coexistence of Anogenital Psoriasis and Genital Warts - Is There an Optimal Treatment? 61
31969241 2019
20
Epidemiology and dermatological comorbidity of seborrhoeic dermatitis: population-based study in 161 269 employees. 61
30802934 2019
21
The economic burden of psoriasis with high comorbidity among privately insured patients in the United States. 61
30523738 2019
22
Using Neural Networks for Diagnosing in Dermatology. 61
31156118 2019
23
Ponesimod, a selective sphingosine 1-phosphate (S1P1) receptor modulator for autoimmune diseases: review of clinical pharmacokinetics and drug disposition. 61
28489480 2018
24
TNF blockade induces a dysregulated type I interferon response without autoimmunity in paradoxical psoriasis. 61
29295985 2018
25
Clinical and Genetic Heterogeneity of CARD14 Mutations in Psoriatic Skin Disease. 61
30386326 2018
26
National Psoriasis Foundation Priorities for Patient-Centered Research: Proceedings from the 2016 Conference. 61
28825055 2017
27
CB2-63 polymorphism and immune-mediated diseases associated with HCV chronic infection. 61
27476469 2016
28
Treatment of plaque psoriasis with an ointment formulation of the Janus kinase inhibitor, tofacitinib: a Phase 2b randomized clinical trial. 61
27716172 2016
29
Photodynamic therapy effect on cell growth inhibition induced by Radachlorin and toluidine blue O on Staphylococcus aureus and Escherichia coli: An in vitro study. 61
27435750 2016
30
Sarcoidosis associated with psoriasis: 2 disease entities, one pathogenic pathway. 61
26947525 2016
31
[Clinical analysis of cutaneous manifestations and related factors in patients with ulcerative colitis]. 61
27373283 2016
32
Use of biologics for psoriasis in Central and Eastern European countries. 61
26370506 2015
33
The routine use of iron stain for biopsies of dermatoses of the legs. 61
24517257 2015
34
Generalized pustular psoriasis following allogeneic stem cell transplantation. 61
25472781 2015
35
Immunohistochemical expression of MCM2 in nonmelanoma epithelial skin cancers. 61
24936676 2014
36
Metabolic syndrome in patients with psoriasis: A comparative study. 61
24860744 2014
37
CARD14 expression in dermal endothelial cells in psoriasis. 61
25369198 2014
38
SNP rs11652075 in the CARD14 gene as a risk factor for psoriasis (PSORS2) in a Spanish cohort. 61
23905699 2013
39
Immunogenicity of monoclonal antibodies against tumor necrosis factor used in chronic immune-mediated Inflammatory conditions: systematic review and meta-analysis. 61
23797343 2013
40
A review of the clinical variants and the management of psoriasis. 61
23669329 2013
41
Genome-wide linkage scan for psoriasis susceptibility loci in multiplex Tunisian families. 61
23013406 2013
42
[Molecular identification of the PSORS2 locus: mutations and polymorphisms in CARD14 gene]. 61
23328365 2013
43
A Delphi Consensus Approach to Challenging Case Scenarios in Moderate-to-Severe Psoriasis: Part 2. 61
23205325 2012
44
Role of cellular oxidative stress and cytochrome c in the pathogenesis of psoriasis. 61
22421888 2012
45
Obesity and the risk of psoriatic arthritis: a population-based study. 61
22586165 2012
46
Five cases of anti-tumor necrosis factor alpha-induced psoriasis presenting with severe scalp involvement in children. 61
21995665 2012
47
Familial pityriasis rubra pilaris is caused by mutations in CARD14. 61
22703878 2012
48
Prevalence of metabolic syndrome in patients with psoriasis: a population-based study in the United Kingdom. 61
22113483 2012
49
Prevalence of skin lesions and need for treatment in a cohort of 90 880 workers. 61
21623753 2011
50
Vitamin D status in psoriasis patients during different treatments with phototherapy. 61
20579901 2010

Variations for Psoriasis 2

ClinVar genetic disease variations for Psoriasis 2:

6 (show top 50) (show all 208) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CARD14 NM_001366385.1(CARD14):c.349G>A (p.Gly117Ser)SNV Pathogenic 31606 rs281875215 17:78156589-78156589 17:80182790-80182790
2 CARD14 NM_001366385.1(CARD14):c.349+5G>ASNV Pathogenic 31607 rs587777763 17:78156594-78156594 17:80182795-80182795
3 CARD14 NM_001366385.1(CARD14):c.425A>G (p.Glu142Gly)SNV Pathogenic 31608 rs281875213 17:78157787-78157787 17:80183988-80183988
4 CARD14 NM_001366385.1(CARD14):c.424G>A (p.Glu142Lys)SNV Pathogenic 31610 rs281875212 17:78157786-78157786 17:80183987-80183987
5 CARD14 NM_001366385.1(CARD14):c.589G>A (p.Glu197Lys)SNV Conflicting interpretations of pathogenicity 420946 rs200790561 17:78157951-78157951 17:80184152-80184152
6 CARD14 NM_001366385.1(CARD14):c.881C>T (p.Ala294Val)SNV Uncertain significance 444417 rs139466192 17:78163589-78163589 17:80189790-80189790
7 CARD14 NM_001366385.1(CARD14):c.299A>G (p.Tyr100Cys)SNV Uncertain significance 458104 rs552779505 17:78156539-78156539 17:80182740-80182740
8 CARD14 NM_001366385.1(CARD14):c.556G>A (p.Ala186Thr)SNV Uncertain significance 458106 rs190213582 17:78157918-78157918 17:80184119-80184119
9 CARD14 NM_001366385.1(CARD14):c.2191G>A (p.Ala731Thr)SNV Uncertain significance 458093 rs537086902 17:78176191-78176191 17:80202392-80202392
10 CARD14 NM_001366385.1(CARD14):c.203T>C (p.Met68Thr)SNV Uncertain significance 458092 rs773633754 17:78155440-78155440 17:80181641-80181641
11 CARD14 NM_001366385.1(CARD14):c.1759G>A (p.Gly587Ser)SNV Uncertain significance 458089 rs146855402 17:78172298-78172298 17:80198499-80198499
12 CARD14 NM_001366385.1(CARD14):c.2314C>T (p.Arg772Cys)SNV Uncertain significance 458096 rs577478029 17:78178056-78178056 17:80204257-80204257
13 CARD14 NM_001366385.1(CARD14):c.2888C>T (p.Ala963Val)SNV Uncertain significance 458103 rs1176488460 17:78182017-78182017 17:80208218-80208218
14 CARD14 NM_001366385.1(CARD14):c.234G>T (p.Lys78Asn)SNV Uncertain significance 527867 rs143747620 17:78156474-78156474 17:80182675-80182675
15 CARD14 NM_001366385.1(CARD14):c.1370C>T (p.Ser457Leu)SNV Uncertain significance 527871 rs776782295 17:78169003-78169003 17:80195204-80195204
16 CARD14 NM_001366385.1(CARD14):c.1288C>T (p.Arg430Trp)SNV Uncertain significance 527872 rs142895605 17:78166350-78166350 17:80192551-80192551
17 CARD14 NM_001366385.1(CARD14):c.1356+4C>TSNV Uncertain significance 527885 rs373428751 17:78166422-78166422 17:80192623-80192623
18 CARD14 NM_001366385.1(CARD14):c.1805C>T (p.Ser602Leu)SNV Uncertain significance 527869 rs201285077 17:78172344-78172344 17:80198545-80198545
19 CARD14 NM_001366385.1(CARD14):c.2517G>C (p.Lys839Asn)SNV Uncertain significance 576948 rs950950885 17:78178952-78178952 17:80205153-80205153
20 CARD14 NM_001366385.1(CARD14):c.131G>A (p.Arg44His)SNV Uncertain significance 582121 rs746969281 17:78155368-78155368 17:80181569-80181569
21 CARD14 NM_001366385.1(CARD14):c.937G>A (p.Val313Met)SNV Uncertain significance 567741 rs759854664 17:78163645-78163645 17:80189846-80189846
22 CARD14 NM_001366385.1(CARD14):c.963+6G>ASNV Uncertain significance 574789 rs376630011 17:78163677-78163677 17:80189878-80189878
23 CARD14 NM_001366385.1(CARD14):c.1330G>A (p.Asp444Asn)SNV Uncertain significance 580131 rs774755867 17:78166392-78166392 17:80192593-80192593
24 CARD14 NM_001366385.1(CARD14):c.1652C>T (p.Ser551Leu)SNV Uncertain significance 579124 rs201449588 17:78171955-78171955 17:80198156-80198156
25 CARD14 NM_001366385.1(CARD14):c.1901C>T (p.Thr634Met)SNV Uncertain significance 583194 rs141847758 17:78175592-78175592 17:80201793-80201793
26 CARD14 NM_001366385.1(CARD14):c.2786_2788AGA[1] (p.Lys930del)short repeat Uncertain significance 572300 rs1474412398 17:78180863-78180865 17:80207064-80207066
27 CARD14 NM_001366385.1(CARD14):c.35C>T (p.Thr12Met)SNV Uncertain significance 662047 17:78155272-78155272 17:80181473-80181473
28 CARD14 NM_001366385.1(CARD14):c.40C>G (p.Leu14Val)SNV Uncertain significance 644953 17:78155277-78155277 17:80181478-80181478
29 CARD14 NM_001366385.1(CARD14):c.94C>T (p.Arg32Cys)SNV Uncertain significance 645960 17:78155331-78155331 17:80181532-80181532
30 CARD14 NM_001366385.1(CARD14):c.205C>T (p.Arg69Trp)SNV Uncertain significance 662399 17:78155442-78155442 17:80181643-80181643
31 CARD14 NM_001366385.1(CARD14):c.236C>T (p.Thr79Ile)SNV Uncertain significance 645768 17:78156476-78156476 17:80182677-80182677
32 CARD14 NM_001366385.1(CARD14):c.250G>A (p.Gly84Arg)SNV Uncertain significance 640077 17:78156490-78156490 17:80182691-80182691
33 CARD14 NM_001366385.1(CARD14):c.348C>T (p.Ser116=)SNV Uncertain significance 659668 17:78156588-78156588 17:80182789-80182789
34 CARD14 NM_001366385.1(CARD14):c.356T>C (p.Met119Thr)SNV Uncertain significance 660052 17:78157718-78157718 17:80183919-80183919
35 CARD14 NM_001366385.1(CARD14):c.496C>G (p.Arg166Gly)SNV Uncertain significance 648607 17:78157858-78157858 17:80184059-80184059
36 CARD14 NM_001366385.1(CARD14):c.496C>T (p.Arg166Cys)SNV Uncertain significance 644802 17:78157858-78157858 17:80184059-80184059
37 CARD14 NM_001366385.1(CARD14):c.675G>A (p.Glu225=)SNV Uncertain significance 644107 17:78158037-78158037 17:80184238-80184238
38 CARD14 NM_001366385.1(CARD14):c.843G>A (p.Leu281=)SNV Uncertain significance 639077 17:78162343-78162343 17:80188544-80188544
39 CARD14 NM_001366385.1(CARD14):c.877G>A (p.Glu293Lys)SNV Uncertain significance 641060 17:78163585-78163585 17:80189786-80189786
40 CARD14 NM_001366385.1(CARD14):c.946G>A (p.Glu316Lys)SNV Uncertain significance 650251 17:78163654-78163654 17:80189855-80189855
41 CARD14 NM_001366385.1(CARD14):c.1099G>T (p.Ala367Ser)SNV Uncertain significance 643479 17:78165131-78165131 17:80191332-80191332
42 CARD14 NM_001366385.1(CARD14):c.1100C>T (p.Ala367Val)SNV Uncertain significance 645669 17:78165132-78165132 17:80191333-80191333
43 CARD14 NM_001366385.1(CARD14):c.1192G>A (p.Glu398Lys)SNV Uncertain significance 642394 17:78165224-78165224 17:80191425-80191425
44 CARD14 NM_001366385.1(CARD14):c.1192G>C (p.Glu398Gln)SNV Uncertain significance 656699 17:78165224-78165224 17:80191425-80191425
45 CARD14 NM_001366385.1(CARD14):c.1199G>A (p.Arg400His)SNV Uncertain significance 647550 17:78165231-78165231 17:80191432-80191432
46 CARD14 NM_001366385.1(CARD14):c.1232C>T (p.Pro411Leu)SNV Uncertain significance 640300 17:78165264-78165264 17:80191465-80191465
47 CARD14 NM_001366385.1(CARD14):c.1277G>A (p.Arg426Gln)SNV Uncertain significance 645230 17:78166339-78166339 17:80192540-80192540
48 CARD14 NM_001366385.1(CARD14):c.1342G>A (p.Val448Ile)SNV Uncertain significance 666104 17:78166404-78166404 17:80192605-80192605
49 CARD14 NM_001366385.1(CARD14):c.1447T>C (p.Ser483Pro)SNV Uncertain significance 659331 17:78169080-78169080 17:80195281-80195281
50 CARD14 NM_001366385.1(CARD14):c.1499G>C (p.Ser500Thr)SNV Uncertain significance 661130 17:78169132-78169132 17:80195333-80195333

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

73
# 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

Pathways related to Psoriasis 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.25 LCE3C LCE3B CSTA

GO Terms for Psoriasis 2

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

# Name GO ID Score Top Affiliating Genes
1 epidermis development GO:0008544 9.26 LCE3C LCE3B
2 defense response to Gram-positive bacterium GO:0050830 9.16 LCE3C LCE3B
3 defense response to Gram-negative bacterium GO:0050829 8.96 LCE3C LCE3B
4 killing of cells of other organism GO:0031640 8.62 LCE3C LCE3B

Sources for Psoriasis 2

3 CDC
7 CNVD
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17 EFO
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68 SNOMED-CT via HPO
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