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PSORS2
MCID: PSR017
MIFTS: 49

Psoriasis 2 (PSORS2)

Categories: Genetic diseases, Immune diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Psoriasis 2

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MalaCards integrated aliases for Psoriasis 2:

Name: Psoriasis 2 58 12 76 15 74
Psoriasis Vulgaris 76 74
Psoriasis 76 74
Psors2 58 76
Psoriasis, Susceptibility to, Type 2 41
Pv 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
variability in age of onset and severity of disease


HPO:

33
psoriasis 2:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Skin diseases Immune diseases
See all MalaCards categories (disease lists)


Sources

Summaries for Psoriasis 2

About this section
UniProtKB/Swiss-Prot : 76 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 pustular psoriasis 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 NF-KappaB Family Pathway and NF-kappa B signaling pathway. The drugs Acitretin and Zinc 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.

Description from OMIM: 602723
Sources

Related Diseases for Psoriasis 2

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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

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

(show top 50) (show all 769)
# Related Disease Score Top Affiliating Genes
1 pustular psoriasis 33.6 CARD14 TNF
2 contact dermatitis 29.8 KRT16 TNF
3 lichen planus 29.7 KRT16 TNF
4 skin disease 29.6 CARD14 KRT16 TNF
5 psoriasis 28.6 CARD14 KRT16 TNF
6 guttate psoriasis 12.6
7 psoriasis 15, pustular 12.5
8 polycythemia vera 12.5
9 psoriasis 10 12.2
10 psoriasis 6 12.2
11 psoriasis 3 12.2
12 psoriasis 9 12.2
13 pustulosis palmaris et plantaris 12.2
14 psoriasis 4 12.1
15 psoriasis 5 12.1
16 psoriasis 8 12.1
17 psoriasis 12 12.1
18 pustulosis of palm and sole 12.1
19 mental retardation and psoriasis 12.1
20 psoriatic juvenile idiopathic arthritis 12.0
21 tranebjaerg svejgaard syndrome 11.8
22 psoriasis 1 11.8
23 impetigo herpetiformis 11.7
24 geographic tongue 11.5
25 parapsoriasis 11.5
26 pemphigus vulgaris, familial 11.4
27 persistent vegetative state 11.4
28 pulmonary valve stenosis 11.4
29 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 11.3
30 chronic recurrent multifocal osteomyelitis 11.3
31 subacute cutaneous lupus erythematosus 11.3
32 psoriasis 14, pustular 11.2
33 singleton-merten syndrome 1 11.1
34 systemic onset juvenile idiopathic arthritis 11.1
35 porphyria variegata 11.1
36 psoriasis 7 11.1
37 psoriasis 11 11.1
38 psoriasis 13 11.1
39 nail disorder, nonsyndromic congenital, 1 11.0
40 singleton-merten syndrome 2 11.0
41 temporomandibular ankylosis 11.0
42 primary cutaneous amyloidosis 11.0
43 combined immunodeficiency with skin granulomas 11.0
44 singleton-merten syndrome 11.0
45 rheumatoid arthritis 10.5
46 vitiligo-associated multiple autoimmune disease susceptibility 1 10.4
47 polycythemia 10.4
48 hepatitis 10.4
49 alopecia 10.4
50 depression 10.4

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



Diseases related to Psoriasis 2
Sources

Symptoms & Phenotypes for Psoriasis 2

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Human phenotypes related to Psoriasis 2:

33
# Description HPO Frequency HPO Source Accession
1 hyperkeratosis 33 HP:0000962
2 parakeratosis 33 HP:0001036
3 scaling skin 33 HP:0040189
4 epidermal acanthosis 33 HP:0025092
5 psoriasiform dermatitis 33 HP:0003765

Symptoms via clinical synopsis from OMIM:

58
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
Sources

Drugs & Therapeutics for Psoriasis 2

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

(show top 50) (show all 177)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acitretin Approved Phase 4,Phase 2,Not Applicable 55079-83-9, 69427-46-9 6437841
2
Zinc Approved, Investigational Phase 4 7440-66-6 32051
3
Adalimumab Approved Phase 4,Not Applicable 331731-18-1 16219006
4
Dimethyl fumarate Approved, Investigational Phase 4 624-49-7 5271565 637568
5
Ustekinumab Approved, Investigational Phase 4,Phase 3,Phase 2 815610-63-0
6
Coal tar Approved Phase 4,Phase 3 8007-45-2
7
Methotrexate Approved Phase 4,Phase 3,Phase 2 1959-05-2, 59-05-2 126941
8
leucovorin Approved Phase 4,Phase 3,Phase 2 58-05-9 143 6006
9
Metformin Approved Phase 4,Phase 3 657-24-9 14219 4091
10
Betamethasone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 378-44-9 9782
11
Etanercept Approved, Investigational Phase 4,Phase 3 185243-69-0
12
Clobetasol Approved, Experimental, Investigational Phase 4,Phase 2,Phase 1 25122-46-7, 25122-41-2 5311051 32798
13
Anthralin Approved Phase 4 1143-38-0
14 Brodalumab Approved, Investigational Phase 4 1174395-19-7
15
Apremilast Approved, Investigational Phase 4 608141-41-9 11561674
16
Insulin glulisine Approved Phase 4 207748-29-6
17
Calcium Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 7440-70-2 271
18
Calcitriol Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 32222-06-3 5280453 134070
19
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2 59-30-3 6037
20 Keratolytic Agents Phase 4,Phase 3,Phase 2,Not Applicable
21 Dermatologic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
22 Calcium, Dietary Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
23 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
24 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
25 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
26 Hormones Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
27 Calcipotriene Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
28 Bone Density Conservation Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
29 Nutrients Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
30 Trace Elements Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
31 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
32 Vasoconstrictor Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
33 Micronutrients Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
34 Vitamins Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
35 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1
36 Immunologic Factors Phase 4,Phase 3,Phase 2,Phase 1
37 Folic Acid Antagonists Phase 4,Phase 3,Phase 2
38 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 3,Phase 2
39 Vitamin B9 Phase 4,Phase 3,Phase 2
40 Vitamin B Complex Phase 4,Phase 3,Phase 2
41 Antimetabolites, Antineoplastic Phase 4,Phase 3,Phase 2
42 Folate Phase 4,Phase 3,Phase 2
43 Antimetabolites Phase 4,Phase 3,Phase 2
44 Hypoglycemic Agents Phase 4,Phase 3
45 Anti-Infective Agents Phase 4,Phase 2,Phase 1
46 Anti-Bacterial Agents Phase 4,Not Applicable
47 Betamethasone Valerate Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 2152-44-5
48 Respiratory System Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
49 glucocorticoids Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
50 Betamethasone benzoate Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Interventional clinical trials:

(show top 50) (show all 198)
# Name Status NCT ID Phase Drugs
1 Study Evaluating the Efficacy and Safety of Triptergium Wilfordii and Acitretin in Psoriasis Vulgaris - CHINA201002016-2 Unknown status NCT01443338 Phase 4 Triptergium Wilfordii;Acitretin
2 The Influence of Adalimumab on Cardiovascular and Metabolic Risk in Psoriasis Unknown status NCT01088165 Phase 4 Adalimumab treatment arm;Fumaric acid esters treatment group
3 The Difference of Microparticles in Patients With Psoriasis Vulgaris Who Received Stelara(Ustekinumab) Unknown status NCT02693470 Phase 4 Ustekinumab
4 Low-Dose (17.5 mg/Day) Acitretin: Comparable Efficacy Without the Side Effects? Unknown status NCT01228409 Phase 4 Acitretin 17.5 mg/day
5 Study for Treatment With Calcipotriol/Betamethasone Dipropionate Gel in Korean Patients With Psoriasis Vulgaris Completed NCT02004574 Phase 4 Calcipotriol/betamethasone dipropionate gel
6 Efficacy and Safety of Calcipotriol Plus Betamethasone Dipropionate Ointment in Patients With Psoriasis Vulgaris Completed NCT00248456 Phase 4 Calcipotriol plus betamethasone dipropionate ointment
7 Efficacy and Safety of Calcipotriol Cream and (Calcipotriol + Betamethasone Dipropionate) Ointment in Psoriasis Vulgaris Completed NCT00216892 Phase 4 Calcipotriol, (calcipotriol + betamethasone)
8 Immunogenetic Profiling of Goeckerman Therapy in the Treatment of Psoriasis Vulgaris Recruiting NCT03662685 Phase 4 Crude Coal Tar Only
9 Safety and Efficacy of Combining nbUVB to Etanercept in Patients Completed NCT00640393 Phase 4 Etanercept
10 Patient Preference of Taclonex Ointment to Taclonex Scalp Suspension in Adult Subjects With Psoriasis Vulgaris Completed NCT01707043 Phase 4 Taclonex
11 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
12 Comparison of Oral Versus Subcutaneous Route of Methotrexate Administration in Moderate to Severe Psoriasis Not yet recruiting NCT03408756 Phase 4 methotrexate
13 Formulation and Clinical Evaluation of Ethosomal and Liposomal Preparations of Anthralin in Psoriasis Active, not recruiting NCT03348462 Phase 4 ethosomal preparation of anthralin;liposomal preparation of anthralin
14 A 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
15 Secukinumab Therapy for the Treatment of Moderate to Severe Plaque Psoriasis With Response Monitoring Using Optical Coherence Tomography (OCT). Recruiting NCT03307447 Phase 4 Secukinumab
16 Long-term Treatment of Scalp Psoriasis With Xamiol® Gel in a Large Adult Chinese Population Completed NCT02533973 Phase 4 Xamiol® gel;Daivonex® scalp solution
17 Long Term Safety and Efficacy Study of Calcitriol 3 mcg/g Ointment in Pediatric Subjects With Plaque Psoriasis Active, not recruiting NCT02125279 Phase 4 Calcitriol
18 An Investigator Initiated Open Label Study Evaluating the Efficacy and Tolerability of Oral Apremilast for the Treatment of Nail Psoriasis Enrolling by invitation NCT03022617 Phase 4 Apremilast
19 Metformin for Treatment of Psoriasis Combined With Disorders of Glucose and Lipid Metabolism Not yet recruiting NCT03629639 Phase 4 Metformin
20 Taclonex Ointment With Hydrogel Patch Occlusion for the Treatment of Psoriasis Terminated NCT00924950 Phase 4 Taclonex Ointment and Hydrogel Patch;Taclonex Ointment
21 Apremilast Treatment for Pruritus and Quality of Life in Scalp Psoriasis Not yet recruiting NCT03553433 Phase 4 Apremilast 30mg;Placebo Oral Tablet
22 Enstilar® Foam in the Treatment of Chronic Plaque Psoriasis in Patients With Skin of Color Recruiting NCT03506477 Phase 4 Enstilar® foam;Vehicle foam
23 Evaluating the Efficacy and Tolerability of Application of Metaderm Product for the Treatment of Psoriasis Recruiting NCT03597620 Phase 4 Metaderm
24 Comparison of Secukinumab 300 mg Combined With a Lifestyle Intervention to Secukinumab Alone for the Treatment of Moderate to Severe Psoriasis Patients With Concomitant Metabolic Syndrome Recruiting NCT03440736 Phase 4 Secukinumab
25 Beneficial Effect of Insulin Glulisine by Lipoatrophy and Type 1 Diabetes (LAS) Enrolling by invitation NCT02914886 Phase 4 Apidra;current insulin
26 Assessing the Efficacy and Safety of Metformin in Treatment of Moderate Psoriasis Unknown status NCT02644954 Phase 3 Metformin;Placebo;Topical Coal tar;Topical calcipotriol
27 BI 655066 Compared to Placebo & Active Comparator (Ustekinumab) in Patients With Moderate to Severe Chronic Plaque Psoriasis Completed NCT02684357 Phase 3 ABBV-066;ustekinumab;placebo for ABBV-066;placebo for ustekinumab
28 LEO 90100 Aerosol Foam Compared to Calcipotriol Plus Betamethasone Dipropionate Gel in Subjects With Psoriasis Vulgaris Completed NCT02132936 Phase 3 LEO 90100 aerosol foam;Aerosol foam vehicle;Calcipotriol BDP gel;Gel vehicle
29 LEO 90100 Twice Weekly Maintenance Regimen for Psoriasis Vulgaris Active, not recruiting NCT02899962 Phase 3 LEO 90100 aerosol foam;LEO 90100 aerosol foam vehicle
30 To Study Generic Calcipotriene and Betamethasone Dipropionate Topical Foam, 0.005%/0.064%, in the Treatment of Psoriasis Vulgaris (Plaque Psoriasis). Recruiting NCT03731091 Phase 3 Calcipotriene/ betamethasone dipropionate topical foam, 0.005%/0.064%;Enstilar® foam (LEO Pharma Inc.)
31 LEO 80185 in the Treatment of Psoriasis Vulgaris on the Non-scalp Regions of the Body (Trunk and/or Limbs) Completed NCT01188928 Phase 3 Calcipotriol plus betamethasone;Betamethasone-17,21-dipropionate;Calcipotriene;Topical suspension vehicle
32 A Study Comparing LEO 80190 Ointment With Hydrocortisone Ointment, Both Applied Once Daily in the Treatment of Psoriasis Vulgaris on the Face and Intertriginous Areas Completed NCT01007591 Phase 3 LEO 80190;Hydrocortisone
33 Efficacy and Safety of Calcipotriol Plus Hydrocortisone Ointment in Psoriasis Vulgaris on the Face and Skin Folds Completed NCT00691002 Phase 3 Calcipotriol plus hydrocortisone (LEO 80190)
34 LEO 90100 Compared to Vehicle in Subjects With Psoriasis Vulgaris Completed NCT01866163 Phase 3 LEO 90100;Vehicle
35 Efficacy and Safety of Calcipotriol Plus Betamethasone Dipropionate Gel Compared With Tacalcitol Ointment and the Gel Vehicle Alone in Patients With Psoriasis Vulgaris Completed NCT00670241 Phase 3 calcipotriol and betamethasone (LEO 80185 gel);LEO 80185 vehicle;Tacalcitol ointment
36 Efficacy and Safety of LEO 90100 Foam in Japanese Subjects With Psoriasis Vulgaris Active, not recruiting NCT03806790 Phase 3 LEO 90100 foam;Dovobet® ointment
37 Patient Insights Following Use of LEO 90100 Aerosol Foam and Daivobet® Gel in Subjects With Psoriasis Vulgaris Completed NCT02310646 Phase 3 LEO 90100 Aerosol Foam;Daivobet® gel
38 Efficacy and Safety of Calcipotriol Plus Hydrocortisone Ointment Compared With Tacalcitol Ointment in Patients With Psoriasis on the Face and Skin Folds Completed NCT00640822 Phase 3 Calcipotriol plus hydrocortisone ointment vehicle;Tacalcitol Ointment;Calcipotriol plus hydrocortisone ointment
39 This Trial is a Randomised, Multicentre, Investigator-blind, Vehicle and Comparator-controlled, Parallel-group Trial With the Purpose of Evaluation Efficacy, Safety and Convenience of the MC2-01 Cream Recruiting NCT03802344 Phase 3 MC2-01 cream;Cal/BDP combination;Vehicle
40 LEO 80185 Gel (Calcipotriol Hydrate Plus Betamethasone Dipropionate) in Japanese Subjects With Psoriasis Completed NCT02668692 Phase 3 LEO 80185 gel;Dovobet ® ointment
41 A Clinical Trial Evaluating Efficacy and Safety of MC2-01 Cream Completed NCT03308799 Phase 3 MC2-01 cream;Cal/BDP combination;Cream vehicle
42 A Phase 3 Clinical Study of KHK 4827 Completed NCT02052609 Phase 3 KHK4827 140mg SC;KHK4827 210mg SC
43 LEO 90105 Ointment in Japanese Subjects With Psoriasis Completed NCT01422434 Phase 3 LEO 90105 = calcipotriol + betamethasone dipropionate;Dovonex® = calcipotriol;Rinderon® - DP = betamethasone dipropionate
44 Infliximab in High Need Versus Low Need Psoriasis Patients: The IHELP Study (Study P04320)(COMPLETED) Completed NCT00254982 Phase 3
45 Trial in Patients With Psoriasis Treated With Methotrexate Using an Optimized Treatment Schedule (METOP) Completed NCT02902861 Phase 3 Methotrexate;Placebo ( for Methotrexate)
46 Efficacy and Safety of Calcipotriene/Betamethasone Gel/Ointment in Psoriasis Completed NCT00279162 Phase 3 Calcipotriene/betamethasone gel and ointment
47 Study of Efficacy and Safety of Secukinumab in Subjects With Moderate to Severe Chronic Plaque-type Psoriasis Completed NCT03066609 Phase 3 Secukinumab 150 mg s.c.;Secukinumab 300 mg s.c.;Placebo
48 Study of Safety, Tolerability, and Efficacy of Secukinumab in Subjects With Moderate to Severe Palmoplantar Psoriasis Completed NCT01806597 Phase 3
49 Study of the Drug Efalizumab (Raptiva), for Adult Patients With Moderate to Severe Plaque Psoriasis Completed NCT00115076 Phase 3 Efalizumab
50 Study to Help Understand the Action of the Drug Etanercept for the Adult Patient With Psoriasis Completed NCT00116181 Phase 3 Etanercept

Search NIH Clinical Center for Psoriasis 2

Inferred drug relations via UMLS 74 / NDF-RT 52 :
Sources

Genetic Tests for Psoriasis 2

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Sources

Anatomical Context for Psoriasis 2

About this section

MalaCards organs/tissues related to Psoriasis 2:

42
Skin, Testes, T Cells, Bone, Thyroid, Heart, Prostate
Sources

Publications for Psoriasis 2

About this section

Articles related to Psoriasis 2:

(show all 12)
# Title Authors Year
1
Sarcoidosis associated with psoriasis: 2 disease entities, one pathogenic pathway. ( 26947525 )
2016
2
SNP rs11652075 in the CARD14 gene as a risk factor for psoriasis (PSORS2) in a Spanish cohort. ( 23905699 )
2013
3
Mutations in IL36RN in patients with generalized pustular psoriasis. ( 23648549 )
2013
4
PSORS2 is due to mutations in CARD14. ( 22521418 )
2012
5
Rare and common variants in CARD14, encoding an epidermal regulator of NF-kappaB, in psoriasis. ( 22521419 )
2012
6
A promoter sequence variant of ZNF750 is linked with familial psoriasis. ( 18256691 )
2008
7
Investigation of the chromosome 17q25 PSORS2 locus in atopic dermatitis. ( 16374479 )
2006
8
PSORS2 markers are not associated with psoriatic arthritis in the Italian population. ( 16733365 )
2006
9
Lack of evidence for genetic association to RUNX1 binding site at PSORS2 in different German psoriasis cohorts. ( 15654961 )
2005
10
Mapping of psoriasis to 17q terminus. ( 15689454 )
2005
11
Genetic analysis of PSORS2 markers in a UK dataset supports the association between RAPTOR SNPs and familial psoriasis. ( 15173233 )
2004
12
Gene for familial psoriasis susceptibility mapped to the distal end of human chromosome 17q. ( 8178173 )
1994
Sources

Variations for Psoriasis 2

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

76
# 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

ClinVar genetic disease variations for Psoriasis 2:

6 (show top 50) (show all 188)
# Gene Variation Type Significance SNP ID Assembly Location
1 CARD14 NM_024110.4(CARD14): c.349G> A (p.Gly117Ser) single nucleotide variant Pathogenic rs281875215 GRCh37 Chromosome 17, 78156589: 78156589
2 CARD14 NM_024110.4(CARD14): c.349G> A (p.Gly117Ser) single nucleotide variant Pathogenic rs281875215 GRCh38 Chromosome 17, 80182790: 80182790
3 CARD14 NM_024110.4(CARD14): c.349+5G> A single nucleotide variant Pathogenic rs587777763 GRCh38 Chromosome 17, 80182795: 80182795
4 CARD14 NM_024110.4(CARD14): c.349+5G> A single nucleotide variant Pathogenic rs587777763 GRCh37 Chromosome 17, 78156594: 78156594
5 CARD14 NM_024110.4(CARD14): c.425A> G (p.Glu142Gly) single nucleotide variant Pathogenic rs281875213 GRCh37 Chromosome 17, 78157787: 78157787
6 CARD14 NM_024110.4(CARD14): c.425A> G (p.Glu142Gly) single nucleotide variant Pathogenic rs281875213 GRCh38 Chromosome 17, 80183988: 80183988
7 CARD14 NM_024110.4(CARD14): c.424G> A (p.Glu142Lys) single nucleotide variant Pathogenic rs281875212 GRCh37 Chromosome 17, 78157786: 78157786
8 CARD14 NM_024110.4(CARD14): c.424G> A (p.Glu142Lys) single nucleotide variant Pathogenic rs281875212 GRCh38 Chromosome 17, 80183987: 80183987
9 CARD14 NM_024110.4(CARD14): c.1778T> A (p.Ile593Asn) single nucleotide variant Uncertain significance rs281875220 GRCh37 Chromosome 17, 78172317: 78172317
10 CARD14 NM_024110.4(CARD14): c.1778T> A (p.Ile593Asn) single nucleotide variant Uncertain significance rs281875220 GRCh38 Chromosome 17, 80198518: 80198518
11 CARD14 NM_024110.4(CARD14): c.185G> A (p.Arg62Gln) single nucleotide variant Benign rs115582620 GRCh37 Chromosome 17, 78155422: 78155422
12 CARD14 NM_024110.4(CARD14): c.185G> A (p.Arg62Gln) single nucleotide variant Benign rs115582620 GRCh38 Chromosome 17, 80181623: 80181623
13 CARD14 NM_024110.4(CARD14): c.2044C> T (p.Arg682Trp) single nucleotide variant Benign rs117918077 GRCh37 Chromosome 17, 78176044: 78176044
14 CARD14 NM_024110.4(CARD14): c.2044C> T (p.Arg682Trp) single nucleotide variant Benign rs117918077 GRCh38 Chromosome 17, 80202245: 80202245
15 CARD14 NM_024110.4(CARD14): c.2919C> G (p.Asp973Glu) single nucleotide variant Benign rs144285237 GRCh37 Chromosome 17, 78182048: 78182048
16 CARD14 NM_024110.4(CARD14): c.2919C> G (p.Asp973Glu) single nucleotide variant Benign rs144285237 GRCh38 Chromosome 17, 80208249: 80208249
17 CARD14 NM_024110.4(CARD14): c.449T> G (p.Leu150Arg) single nucleotide variant Likely benign rs146214639 GRCh37 Chromosome 17, 78157811: 78157811
18 CARD14 NM_024110.4(CARD14): c.449T> G (p.Leu150Arg) single nucleotide variant Likely benign rs146214639 GRCh38 Chromosome 17, 80184012: 80184012
19 CARD14 NM_024110.4(CARD14): c.536G> A (p.Arg179His) single nucleotide variant Uncertain significance rs199517469 GRCh37 Chromosome 17, 78157898: 78157898
20 CARD14 NM_024110.4(CARD14): c.536G> A (p.Arg179His) single nucleotide variant Uncertain significance rs199517469 GRCh38 Chromosome 17, 80184099: 80184099
21 CARD14 NM_024110.4(CARD14): c.599G> A (p.Ser200Asn) single nucleotide variant Likely benign rs114688446 GRCh37 Chromosome 17, 78157961: 78157961
22 CARD14 NM_024110.4(CARD14): c.599G> A (p.Ser200Asn) single nucleotide variant Likely benign rs114688446 GRCh38 Chromosome 17, 80184162: 80184162
23 CARD14 NM_024110.4(CARD14): c.589G> A (p.Glu197Lys) single nucleotide variant Uncertain significance rs200790561 GRCh37 Chromosome 17, 78157951: 78157951
24 CARD14 NM_024110.4(CARD14): c.589G> A (p.Glu197Lys) single nucleotide variant Uncertain significance rs200790561 GRCh38 Chromosome 17, 80184152: 80184152
25 CARD14 NM_024110.4(CARD14): c.881C> T (p.Ala294Val) single nucleotide variant Uncertain significance rs139466192 GRCh37 Chromosome 17, 78163589: 78163589
26 CARD14 NM_024110.4(CARD14): c.881C> T (p.Ala294Val) single nucleotide variant Uncertain significance rs139466192 GRCh38 Chromosome 17, 80189790: 80189790
27 CARD14 NM_024110.4(CARD14): c.299A> G (p.Tyr100Cys) single nucleotide variant Uncertain significance rs552779505 GRCh37 Chromosome 17, 78156539: 78156539
28 CARD14 NM_024110.4(CARD14): c.299A> G (p.Tyr100Cys) single nucleotide variant Uncertain significance rs552779505 GRCh38 Chromosome 17, 80182740: 80182740
29 CARD14 NM_024110.4(CARD14): c.960G> A (p.Glu320=) single nucleotide variant Benign rs144207494 GRCh37 Chromosome 17, 78163668: 78163668
30 CARD14 NM_024110.4(CARD14): c.960G> A (p.Glu320=) single nucleotide variant Benign rs144207494 GRCh38 Chromosome 17, 80189869: 80189869
31 CARD14 NM_024110.4(CARD14): c.1371G> A (p.Ser457=) single nucleotide variant Benign rs62074378 GRCh38 Chromosome 17, 80195205: 80195205
32 CARD14 NM_024110.4(CARD14): c.1371G> A (p.Ser457=) single nucleotide variant Benign rs62074378 GRCh37 Chromosome 17, 78169004: 78169004
33 CARD14 NM_024110.4(CARD14): c.1789C> T (p.Arg597Trp) single nucleotide variant Benign rs73429414 GRCh37 Chromosome 17, 78172328: 78172328
34 CARD14 NM_024110.4(CARD14): c.1789C> T (p.Arg597Trp) single nucleotide variant Benign rs73429414 GRCh38 Chromosome 17, 80198529: 80198529
35 CARD14 NM_024110.4(CARD14): c.2859G> A (p.Ala953=) single nucleotide variant Benign rs139969019 GRCh38 Chromosome 17, 80208189: 80208189
36 CARD14 NM_024110.4(CARD14): c.2859G> A (p.Ala953=) single nucleotide variant Benign rs139969019 GRCh37 Chromosome 17, 78181988: 78181988
37 CARD14 NM_024110.4(CARD14): c.556G> A (p.Ala186Thr) single nucleotide variant Uncertain significance rs190213582 GRCh38 Chromosome 17, 80184119: 80184119
38 CARD14 NM_024110.4(CARD14): c.556G> A (p.Ala186Thr) single nucleotide variant Uncertain significance rs190213582 GRCh37 Chromosome 17, 78157918: 78157918
39 CARD14 NM_024110.4(CARD14): c.709A> C (p.Asn237His) single nucleotide variant Benign rs114218658 GRCh38 Chromosome 17, 80188410: 80188410
40 CARD14 NM_024110.4(CARD14): c.709A> C (p.Asn237His) single nucleotide variant Benign rs114218658 GRCh37 Chromosome 17, 78162209: 78162209
41 CARD14 NM_024110.4(CARD14): c.2191G> A (p.Ala731Thr) single nucleotide variant Uncertain significance rs537086902 GRCh38 Chromosome 17, 80202392: 80202392
42 CARD14 NM_024110.4(CARD14): c.2191G> A (p.Ala731Thr) single nucleotide variant Uncertain significance rs537086902 GRCh37 Chromosome 17, 78176191: 78176191
43 CARD14 NM_024110.4(CARD14): c.2193G> A (p.Ala731=) single nucleotide variant Benign rs35692270 GRCh38 Chromosome 17, 80202394: 80202394
44 CARD14 NM_024110.4(CARD14): c.2193G> A (p.Ala731=) single nucleotide variant Benign rs35692270 GRCh37 Chromosome 17, 78176193: 78176193
45 CARD14 NM_024110.4(CARD14): c.2772C> T (p.His924=) single nucleotide variant Benign rs146356100 GRCh38 Chromosome 17, 80207050: 80207050
46 CARD14 NM_024110.4(CARD14): c.2772C> T (p.His924=) single nucleotide variant Benign rs146356100 GRCh37 Chromosome 17, 78180849: 78180849
47 CARD14 NM_024110.4(CARD14): c.203T> C (p.Met68Thr) single nucleotide variant Uncertain significance rs773633754 GRCh38 Chromosome 17, 80181641: 80181641
48 CARD14 NM_024110.4(CARD14): c.203T> C (p.Met68Thr) single nucleotide variant Uncertain significance rs773633754 GRCh37 Chromosome 17, 78155440: 78155440
49 CARD14 NM_024110.4(CARD14): c.378G> A (p.Glu126=) single nucleotide variant Benign rs138552007 GRCh38 Chromosome 17, 80183941: 80183941
50 CARD14 NM_024110.4(CARD14): c.378G> A (p.Glu126=) single nucleotide variant Benign rs138552007 GRCh37 Chromosome 17, 78157740: 78157740
Sources

Expression for Psoriasis 2

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Search GEO for disease gene expression data for Psoriasis 2.
Sources

Pathways for Psoriasis 2

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

# Super pathways Score Top Affiliating Genes
1
NF-KappaB Family Pathway 65
Show member pathways
 11.78 CARD14 TNF
2
NF-kappa B signaling pathway 38
10.96 CARD14 TNF
Sources

GO Terms for Psoriasis 2

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

# Name GO ID Score Top Affiliating Genes
1 inflammatory response GO:0006954 9.26 KRT16 TNF
2 positive regulation of protein phosphorylation GO:0001934 9.16 CARD14 TNF
3 positive regulation of NF-kappaB transcription factor activity GO:0051092 8.96 CARD14 TNF
4 tumor necrosis factor-mediated signaling pathway GO:0033209 8.62 CARD14 TNF
Sources

Sources for Psoriasis 2

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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