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 57 12 73 6 15 71
Psoriasis Vulgaris 73 71
Psoriasis 73 71
Psors2 57 73
Psoriasis, Susceptibility to, Type 2 39
Pv 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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® 57 602723
OMIM Phenotypic Series 57 PS177900
MeSH 44 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 1 and psoriasis 10, 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 Metformin and Esomeprazole have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and endothelial, 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 1237)
# Related Disease Score Top Affiliating Genes
1 psoriasis 1 32.2 LCE3C LCE3B CARD14
2 psoriasis 10 32.1 LCE3C CARD14
3 psoriasis 5 32.0 CSTA CARD14
4 psoriasis 4 31.8 LCE3C LCE3B CARD14
5 psoriasis 9 31.8 LCE3C LCE3B CARD14
6 psoriasis 6 31.7 LINC02693 FBXL19 CLMN CARD14
7 psoriasis 3 31.7 LINC02693 CLMN CDKAL1 CARD14
8 skin disease 31.2 ICOSLG CSTA CARD14
9 allergic contact dermatitis 30.1 LCE3C LCE3B
10 psoriatic arthritis 29.8 LCE3C LCE3B CARD14
11 psoriasis 14, pustular 29.5 LCE3C LCE3B CARD14
12 psoriasis 29.4 LCE3B FBXL19 CSTA CARD14
13 psoriasis 13 11.6
14 guttate psoriasis 11.6
15 psoriasis 7 11.5
16 psoriasis 11 11.5
17 psoriasis 15, pustular 11.4
18 pustulosis palmaris et plantaris 11.4
19 psoriasis 12 11.4
20 psoriasis 8 11.4
21 psoriatic juvenile idiopathic arthritis 11.3
22 tranebjaerg svejgaard syndrome 11.3
23 psoriasis 15 11.3
24 juvenile rheumatoid arthritis 11.1
25 mental retardation and psoriasis 11.1
26 impetigo herpetiformis 11.1
27 geographic tongue 11.0
28 spondyloarthropathy 1 11.0
29 vitiligo-associated multiple autoimmune disease susceptibility 1 11.0
30 parapsoriasis 11.0
31 singleton-merten syndrome 1 10.9
32 rheumatoid factor-negative juvenile idiopathic arthritis 10.9
33 systemic onset juvenile idiopathic arthritis 10.9
34 subacute cutaneous lupus erythematosus 10.9
35 singleton-merten syndrome 10.8
36 temporomandibular ankylosis 10.8
37 nail disorder, nonsyndromic congenital, 1 10.8
38 combined cellular and humoral immune defects with granulomas 10.8
39 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 10.8
40 singleton-merten syndrome 2 10.8
41 primary cutaneous amyloidosis 10.8
42 autoimmune disease 10.7
43 crohn's disease 10.6
44 inflammatory spondylopathy 10.6
45 skin carcinoma 10.6
46 spondylitis 10.6
47 lipid metabolism disorder 10.6
48 inflammatory bowel disease 10.6
49 keratosis 10.6
50 vitiligo-associated multiple autoimmune disease susceptibility 6 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®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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 372)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metformin Approved Phase 4 657-24-9 14219 4091
2
Esomeprazole Approved, Investigational Phase 4 161796-78-7, 161973-10-0, 119141-88-7 9568614 4594
3
Desonide Approved, Investigational Phase 4 638-94-8 5311066
4
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
5
Sodium citrate Approved, Investigational Phase 4 68-04-2
6
Mannitol Approved, Investigational Phase 4 69-65-8 453 6251
7
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
8
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
9
mometasone furoate Approved, Investigational, Vet_approved Phase 4 83919-23-7
10
Desoximetasone Approved Phase 4 382-67-2 5311067
11
Fluticasone Approved, Experimental Phase 4 90566-53-3 62924
12
Clocortolone Approved Phase 4 4828-27-7, 34097-16-0 5282493 5311052
13
Tazarotene Approved, Investigational Phase 4 118292-40-3 5381
14
Zinc Approved, Investigational Phase 4 7440-66-6 32051
15
Ustekinumab Approved, Investigational Phase 4 815610-63-0
16 Ixekizumab Approved, Investigational Phase 4 1143503-69-8
17
Levoleucovorin Approved, Investigational Phase 4 68538-85-2 149436
18
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
19
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
20 Vedolizumab Approved Phase 4 943609-66-3
21
Methotrexate Approved Phase 4 1959-05-2, 59-05-2 126941
22
Adalimumab Approved, Experimental Phase 4 331731-18-1 16219006
23
Betamethasone Approved, Vet_approved Phase 4 378-44-9 9782
24
Capsaicin Approved Phase 4 404-86-4 1548943
25
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
26
Glycine Approved, Nutraceutical, Vet_approved Phase 4 56-40-6 750
27
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
28
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
29
Calcitriol Approved, Nutraceutical Phase 4 32222-06-3 134070 5280453
30
Trichostatin A Experimental Phase 4 58880-19-6
31 Chlorpheniramine, phenylpropanolamine drug combination Phase 4
32 Citrate Phase 4
33 diuretics Phase 4
34 Anticoagulants Phase 4
35 Chelating Agents Phase 4
36 Hydrocortisone hemisuccinate Phase 4
37 Hydrocortisone 17-butyrate 21-propionate Phase 4
38 Heptavalent Pneumococcal Conjugate Vaccine Phase 4
39 Paraproteins Phase 4
40 Myeloma Proteins Phase 4
41 Hydrocortisone-17-butyrate Phase 4
42 Bronchodilator Agents Phase 4
43 Tin Fluorides Phase 4
44 Anti-Allergic Agents Phase 4
45
Chondroitin Phase 4 9007-27-6 14389182
46 Antipyretics Phase 4
47 Clocortolone pivalate Phase 4
48 Betamethasone sodium phosphate Phase 4
49 Betamethasone-17,21-dipropionate Phase 4
50 Betamethasone benzoate Phase 4

Interventional clinical trials:

(show top 50) (show all 1471)
# 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 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
3 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
4 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
5 Home UVB Phototherapy for Psoriasis: Effectiveness, Quality of Life and Cost-Effectiveness Unknown status NCT00150930 Phase 4
6 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%
7 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
8 Metformin for Treatment of Psoriasis Combined With Disorders of Glucose and Lipid Metabolism: A Double-Blind, Randomized, Placebo-Controlled Study Unknown status NCT03629639 Phase 4 Metformin
9 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
10 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
11 Multicenter Randomized Double Blind Controlled-study to Assess the Potential of Methotrexate Versus Placebo to Improve and Maintain Response to Anti TNF- Alpha Agents in Adult Patients With Moderate to Severe Psoriasis Unknown status NCT02829424 Phase 4 Methotrexate;Methotrexate Placebo
12 A Single Center Study to Evaluate the Effectiveness and Safety of Add on Enstilar® in Patients Using OTEZLA® for Moderate to Severe Plaque Psoriasis Unknown status NCT03587194 Phase 4 Otezla
13 Apremilast in Combination With Clobetasol Spray for the Treatment of Plaque Psoriasis Unknown status NCT03453190 Phase 4
14 An Open-Label Study Evaluating Enstilar® (Calcipotriene and Betamethasone Dipropionate) Foam, 0.005%/0.064% QD in Psoriasis Patients Being Treated With Etanercept or Adalimumab Unknown status NCT03827876 Phase 4 Enstilar 0.005%-0.064% Topical Foam
15 Proton Pump Inhibitors Use in Patients With Psoriasis Unknown status NCT02624544 Phase 4 esomeprazole;desonide
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 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
18 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
19 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
20 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
21 An Open-label Study to Evaluate the Efficacy of Re-treatment for Patients With a History of Etanercept Use Unknown status NCT01132235 Phase 4
22 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
23 Can We Miss Pigmented Lesions in Psoriasis Patients? Completed NCT01053819 Phase 4 etanercept
24 Energy-restricted, n-3 Polysaturated Fatty Acids-rich Diet Improves the Clinical Response to Immuno-modulating Drugs in Obese Patients With Plaque-type Psoriasis: a Randomized Control Clinical Trial. Completed NCT01876875 Phase 4
25 Pilot Study on the Effect of Adalimumab on Vascular Inflammation in Patients With Moderate to Severe Plaque Psoriasis Completed NCT00940862 Phase 4
26 Can an App Supporting Psoriasis Patients Improve Adherence to Topical Treatment? A Single-blind Randomized Controlled Trial Completed NCT02858713 Phase 4 Calcipotriene + Betamethasone Dipropionate
27 Enbrel® in Psoriatic Arthritis Completed NCT00111124 Phase 4 Enbrel®
28 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
29 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
30 A Randomized, Double-blind, Placebo-controlled, Parallel-group, Multicenter Study to Evaluate the Effect of Secukinumab on Aortic Vascular Inflammation and Cardiometabolic Biomarkers After 12 Weeks of Treatment, Compared to Placebo, and up to 52 Weeks of Treatment With Secukinumab in Adult Subjects With Moderate to Severe Chronic Plaque-type Psoriasis Completed NCT02690701 Phase 4 Secukinumab 300 mg
31 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
32 Efficacy and Safety of Adalimumab in Patients With Psoriasis and Obstructive Sleep Apnea Completed NCT01181570 Phase 4 Adalimumab;Placebo
33 A Randomized, Double-blind, Placebo-controlled, Parallel-group, Multicenter Study to Explore Changes in Subcutaneous Adipose Tissue and Modulation of Skin Inflammation After 12 Weeks of Treatment With Secukinumab, Compared to Placebo, and up to 52 Weeks of Treatment With Secukinumab in Adult Patients With Moderate to Severe Plaque Psoriasis Completed NCT03055494 Phase 4
34 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)
35 An Open Label, Prospective Cohort Pilot Study to Evaluate the Efficacy and Safety of Etanercept in the Treatment of Moderate to Severe Plaque Psoriasis in Patients Who Have Not Had an Adequate Response to Adalimumab Completed NCT00833729 Phase 4 etanercept
36 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
37 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
38 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
39 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
40 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
41 Different Treatment Regimens of Calcipotriol Cream and Combination (Calcipotriol/Betamethasone Dipropionate) Ointment in Psoriasis Vulgaris Completed NCT00216892 Phase 4 Calcipotriol, (calcipotriol + betamethasone)
42 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
43 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
44 A Randomized Study Combining Etanercept and Short Courses of Narrow-Band UVB in Patients With Psoriasis Vulgaris Completed NCT00640393 Phase 4 Etanercept
45 Patient Preference of Taclonex Ointment to Taclonex Scalp Suspension in Adult Subjects With Psoriasis Vulgaris Completed NCT01707043 Phase 4 Taclonex
46 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
47 Long-term Treatment of Scalp Psoriasis With Xamiol® Gel in a Large Adult Chinese Population Completed NCT02533973 Phase 4 Xamiol® gel;Daivonex® scalp solution
48 Randomised, Open-label Preliminary Study to Assess the Effects of 2 Regimens of Etanercept on Nail and Skin Symptoms in Patients With Nail Psoriasis and Plaque Psoriasis Completed NCT00581100 Phase 4 etanercept
49 Comparison of the Performance of Subjective or Objective Psoriasis Severity Assessment Tools for the Assessment of the Improvement of Psoriasis After Oral Cyclosporine A or Methotrexate Treatment Completed NCT02655705 Phase 4 Cyclosporine A;Methotrexate
50 Evaluation of Nail Psoriasis Severity Index (NAPSI) and Modified Napsi in Patients With Nail Psoriasis Treated With Acitretin Completed NCT00723437 Phase 4 acitretin

Search NIH Clinical Center for Psoriasis 2

Inferred drug relations via UMLS 71 / 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:

40
Skin, Liver, Endothelial, T Cells, Bone, Pituitary, Neutrophil

Publications for Psoriasis 2

Articles related to Psoriasis 2:

(show top 50) (show all 86)
# Title Authors PMID Year
1
Rare and common variants in CARD14, encoding an epidermal regulator of NF-kappaB, in psoriasis. 61 6 57
22521419 2012
2
PSORS2 is due to mutations in CARD14. 6 57 61
22521418 2012
3
Mapping of psoriasis to 17q terminus. 6 57
15689454 2005
4
Gene for familial psoriasis susceptibility mapped to the distal end of human chromosome 17q. 57 6
8178173 1994
5
PSORS2 markers are not associated with psoriatic arthritis in the Italian population. 57 61
16733365 2006
6
Genetic analysis of PSORS2 markers in a UK dataset supports the association between RAPTOR SNPs and familial psoriasis. 61 57
15173233 2004
7
A putative RUNX1 binding site variant between SLC9A3R1 and NAT9 is associated with susceptibility to psoriasis. 57 61
14608357 2003
8
Novel immunoglobulin superfamily gene cluster, mapping to a region of human chromosome 17q25, linked to psoriasis susceptibility. 57 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. 57
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. 57
9858851 1999
13
Evidence for two psoriasis susceptibility loci (HLA and 17q) and two novel candidate regions (16q and 20p) by genome-wide scan. 57
9259283 1997
14
Confirmation of genetic heterogeneity in familial psoriasis. 57
7562968 1995
15
Scanning chromosome 17 for psoriasis susceptibility: lack of evidence for a distal 17q locus. 57
7558055 1995
16
The Effect of Adalimumab in Korean Patients with Refractory Noninfectious Uveitis. 61
33527798 2021
17
Association of Maternal Autoimmune Disease With Attention-Deficit/Hyperactivity Disorder in Children. 61
33464287 2021
18
Chromatin interactions in differentiating keratinocytes reveal novel atopic dermatitis- and psoriasis-associated genes. 61
33069716 2020
19
Gut Microbiome in Psoriasis: An Updated Review. 61
32545459 2020
20
Activated Platelets Induce Endothelial Cell Inflammatory Response in Psoriasis via COX-1. 61
32131611 2020
21
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
22
Coexistence of Anogenital Psoriasis and Genital Warts - Is There an Optimal Treatment? 61
31969241 2019
23
Epidemiology and dermatological comorbidity of seborrhoeic dermatitis: population-based study in 161 269 employees. 61
30802934 2019
24
The economic burden of psoriasis with high comorbidity among privately insured patients in the United States. 61
30523738 2019
25
Using Neural Networks for Diagnosing in Dermatology. 61
31156118 2019
26
Ponesimod, a selective sphingosine 1-phosphate (S1P1) receptor modulator for autoimmune diseases: review of clinical pharmacokinetics and drug disposition. 61
28489480 2018
27
TNF blockade induces a dysregulated type I interferon response without autoimmunity in paradoxical psoriasis. 61
29295985 2018
28
Clinical and Genetic Heterogeneity of CARD14 Mutations in Psoriatic Skin Disease. 61
30386326 2018
29
National Psoriasis Foundation Priorities for Patient-Centered Research: Proceedings from the 2016 Conference. 61
28825055 2017
30
CB2-63 polymorphism and immune-mediated diseases associated with HCV chronic infection. 61
27476469 2016
31
Treatment of plaque psoriasis with an ointment formulation of the Janus kinase inhibitor, tofacitinib: a Phase 2b randomized clinical trial. 61
27716172 2016
32
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
33
Sarcoidosis associated with psoriasis: 2 disease entities, one pathogenic pathway. 61
26947525 2016
34
[Clinical analysis of cutaneous manifestations and related factors in patients with ulcerative colitis]. 61
27373283 2016
35
Use of biologics for psoriasis in Central and Eastern European countries. 61
26370506 2015
36
The routine use of iron stain for biopsies of dermatoses of the legs. 61
24517257 2015
37
Generalized pustular psoriasis following allogeneic stem cell transplantation. 61
25472781 2015
38
Immunohistochemical expression of MCM2 in nonmelanoma epithelial skin cancers. 61
24936676 2014
39
Metabolic syndrome in patients with psoriasis: A comparative study. 61
24860744 2014
40
CARD14 expression in dermal endothelial cells in psoriasis. 61
25369198 2014
41
SNP rs11652075 in the CARD14 gene as a risk factor for psoriasis (PSORS2) in a Spanish cohort. 61
23905699 2013
42
Immunogenicity of monoclonal antibodies against tumor necrosis factor used in chronic immune-mediated Inflammatory conditions: systematic review and meta-analysis. 61
23797343 2013
43
A review of the clinical variants and the management of psoriasis. 61
23669329 2013
44
Genome-wide linkage scan for psoriasis susceptibility loci in multiplex Tunisian families. 61
23013406 2013
45
[Molecular identification of the PSORS2 locus: mutations and polymorphisms in CARD14 gene]. 61
23328365 2013
46
A Delphi Consensus Approach to Challenging Case Scenarios in Moderate-to-Severe Psoriasis: Part 2. 61
23205325 2012
47
Obesity and the risk of psoriatic arthritis: a population-based study. 61
22586165 2012
48
Role of cellular oxidative stress and cytochrome c in the pathogenesis of psoriasis. 61
22421888 2012
49
Five cases of anti-tumor necrosis factor alpha-induced psoriasis presenting with severe scalp involvement in children. 61
21995665 2012
50
Familial pityriasis rubra pilaris is caused by mutations in CARD14. 61
22703878 2012

Variations for Psoriasis 2

ClinVar genetic disease variations for Psoriasis 2:

6 (show top 50) (show all 247)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CARD14 NM_001366385.1(CARD14):c.349+5G>A SNV Pathogenic 31607 rs587777763 17:78156594-78156594 17:80182795-80182795
2 CARD14 NM_001366385.1(CARD14):c.349G>A (p.Gly117Ser) SNV Pathogenic 31606 rs281875215 17:78156589-78156589 17:80182790-80182790
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 SGSH NM_001366385.1(CARD14):c.2314C>T (p.Arg772Cys) SNV Uncertain significance 458096 rs577478029 17:78178056-78178056 17:80204257-80204257
6 CARD14 NM_001366385.1(CARD14):c.1759G>A (p.Gly587Ser) SNV Uncertain significance 458089 rs146855402 17:78172298-78172298 17:80198499-80198499
7 CARD14 NM_001366385.1(CARD14):c.203T>C (p.Met68Thr) SNV Uncertain significance 458092 rs773633754 17:78155440-78155440 17:80181641-80181641
8 CARD14 NM_001366385.1(CARD14):c.299A>G (p.Tyr100Cys) SNV Uncertain significance 458104 rs552779505 17:78156539-78156539 17:80182740-80182740
9 CARD14 NM_001366385.1(CARD14):c.881C>T (p.Ala294Val) SNV Uncertain significance 444417 rs139466192 17:78163589-78163589 17:80189790-80189790
10 CARD14 NM_001366385.1(CARD14):c.556G>A (p.Ala186Thr) SNV Uncertain significance 458106 rs190213582 17:78157918-78157918 17:80184119-80184119
11 SGSH NM_001366385.1(CARD14):c.2191G>A (p.Ala731Thr) SNV Uncertain significance 458093 rs537086902 17:78176191-78176191 17:80202392-80202392
12 CARD14 NM_001366385.1(CARD14):c.778G>A (p.Gly260Arg) SNV Uncertain significance 565760 rs772988369 17:78162278-78162278 17:80188479-80188479
13 CARD14 NM_001366385.1(CARD14):c.1211G>T (p.Arg404Leu) SNV Uncertain significance 566495 rs978430125 17:78165243-78165243 17:80191444-80191444
14 CARD14 NM_001366385.1(CARD14):c.1471G>A (p.Asp491Asn) SNV Uncertain significance 567346 rs149030007 17:78169104-78169104 17:80195305-80195305
15 CARD14 NM_001366385.1(CARD14):c.937G>A (p.Val313Met) SNV Uncertain significance 567741 rs759854664 17:78163645-78163645 17:80189846-80189846
16 CARD14 NM_001366385.1(CARD14):c.1828C>T (p.Arg610Cys) SNV Uncertain significance 567960 rs371910172 17:78172367-78172367 17:80198568-80198568
17 SGSH NM_001366385.1(CARD14):c.2279G>A (p.Arg760His) SNV Uncertain significance 569055 rs143600438 17:78177680-78177680 17:80203881-80203881
18 CARD14 NM_001366385.1(CARD14):c.545G>A (p.Arg182His) SNV Uncertain significance 569336 rs149514734 17:78157907-78157907 17:80184108-80184108
19 CARD14 NM_001366385.1(CARD14):c.536G>A (p.Arg179His) SNV Uncertain significance 68783 rs199517469 17:78157898-78157898 17:80184099-80184099
20 CARD14 NM_001366385.1(CARD14):c.1046C>T (p.Ala349Val) SNV Uncertain significance 570720 rs770212092 17:78164655-78164655 17:80190856-80190856
21 SGSH NM_001366385.1(CARD14):c.2786_2788AGA[1] (p.Lys930del) Microsatellite Uncertain significance 572300 rs1474412398 17:78180863-78180865 17:80207064-80207066
22 CARD14 NM_001366385.1(CARD14):c.827C>A (p.Ser276Ter) SNV Uncertain significance 573655 rs149318654 17:78162327-78162327 17:80188528-80188528
23 CARD14 NM_001366385.1(CARD14):c.1658+9_1658+11del Microsatellite Uncertain significance 573934 rs773281285 17:78171965-78171967 17:80198166-80198168
24 SGSH NM_001366385.1(CARD14):c.1977C>T (p.Asp659=) SNV Uncertain significance 574056 rs200737962 17:78175668-78175668 17:80201869-80201869
25 CARD14 NM_001366385.1(CARD14):c.963+6G>A SNV Uncertain significance 574789 rs376630011 17:78163677-78163677 17:80189878-80189878
26 SGSH NM_001366385.1(CARD14):c.2353C>T (p.Arg785Cys) SNV Uncertain significance 575580 rs146332779 17:78178095-78178095 17:80204296-80204296
27 SGSH NM_001366385.1(CARD14):c.2315G>A (p.Arg772His) SNV Uncertain significance 576943 rs746635931 17:78178057-78178057 17:80204258-80204258
28 SGSH NM_001366385.1(CARD14):c.2517G>C (p.Lys839Asn) SNV Uncertain significance 576948 rs950950885 17:78178952-78178952 17:80205153-80205153
29 CARD14 NM_001366385.1(CARD14):c.1652C>T (p.Ser551Leu) SNV Uncertain significance 579124 rs201449588 17:78171955-78171955 17:80198156-80198156
30 CARD14 NM_001366385.1(CARD14):c.843+1G>T SNV Uncertain significance 579208 rs1567877527 17:78162344-78162344 17:80188545-80188545
31 CARD14 NM_001366385.1(CARD14):c.1330G>A (p.Asp444Asn) SNV Uncertain significance 580131 rs774755867 17:78166392-78166392 17:80192593-80192593
32 CARD14 NM_001366385.1(CARD14):c.131G>A (p.Arg44His) SNV Uncertain significance 582121 rs746969281 17:78155368-78155368 17:80181569-80181569
33 SGSH NM_001366385.1(CARD14):c.1927C>T (p.Leu643Phe) SNV Uncertain significance 582296 rs767152556 17:78175618-78175618 17:80201819-80201819
34 SGSH NM_001366385.1(CARD14):c.1901C>T (p.Thr634Met) SNV Uncertain significance 583194 rs141847758 17:78175592-78175592 17:80201793-80201793
35 CARD14 NM_001366385.1(CARD14):c.843G>A (p.Leu281=) SNV Uncertain significance 639077 rs1332503520 17:78162343-78162343 17:80188544-80188544
36 CARD14 NM_001366385.1(CARD14):c.250G>A (p.Gly84Arg) SNV Uncertain significance 640077 rs193262780 17:78156490-78156490 17:80182691-80182691
37 CARD14 NM_001366385.1(CARD14):c.1232C>T (p.Pro411Leu) SNV Uncertain significance 640300 rs564433759 17:78165264-78165264 17:80191465-80191465
38 SGSH NM_001366385.1(CARD14):c.1973C>T (p.Thr658Met) SNV Uncertain significance 640433 rs769208715 17:78175664-78175664 17:80201865-80201865
39 SGSH NM_001366385.1(CARD14):c.2473G>A (p.Ala825Thr) SNV Uncertain significance 640610 rs538251591 17:78178908-78178908 17:80205109-80205109
40 CARD14 NM_001366385.1(CARD14):c.877G>A (p.Glu293Lys) SNV Uncertain significance 641060 rs775291378 17:78163585-78163585 17:80189786-80189786
41 SGSH NM_001366385.1(CARD14):c.2477G>A (p.Arg826Gln) SNV Uncertain significance 641359 rs183322775 17:78178912-78178912 17:80205113-80205113
42 SGSH NM_001366385.1(CARD14):c.2996C>T (p.Thr999Met) SNV Uncertain significance 641975 rs534845615 17:78182125-78182125 17:80208326-80208326
43 SGSH NM_001366385.1(CARD14):c.2527G>A (p.Glu843Lys) SNV Uncertain significance 642022 rs768044758 17:78178962-78178962 17:80205163-80205163
44 CARD14 NM_001366385.1(CARD14):c.1192G>A (p.Glu398Lys) SNV Uncertain significance 642394 rs139740020 17:78165224-78165224 17:80191425-80191425
45 CARD14 NM_001366385.1(CARD14):c.615T>C (p.Tyr205=) SNV Uncertain significance 567222 rs1042724807 17:78157977-78157977 17:80184178-80184178
46 CARD14 NM_001366385.1(CARD14):c.1288C>T (p.Arg430Trp) SNV Uncertain significance 527872 rs142895605 17:78166350-78166350 17:80192551-80192551
47 CARD14 NM_001366385.1(CARD14):c.1370C>T (p.Ser457Leu) SNV Uncertain significance 527871 rs776782295 17:78169003-78169003 17:80195204-80195204
48 SGSH NM_001366385.1(CARD14):c.2641G>A (p.Gly881Arg) SNV Uncertain significance 527870 rs548495951 17:78179401-78179401 17:80205602-80205602
49 CARD14 NM_001366385.1(CARD14):c.1778T>A (p.Ile593Asn) SNV Uncertain significance 68776 rs281875220 17:78172317-78172317 17:80198518-80198518
50 SGSH NM_001366385.1(CARD14):c.2483G>A (p.Arg828Gln) SNV Uncertain significance 527868 rs147592804 17:78178918-78178918 17:80205119-80205119

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
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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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