ATOD2
MCID: DRM054
MIFTS: 44

Dermatitis, Atopic, 2 (ATOD2)

Categories: Genetic diseases, Immune diseases, Neuronal diseases, Skin diseases

Aliases & Classifications for Dermatitis, Atopic, 2

MalaCards integrated aliases for Dermatitis, Atopic, 2:

Name: Dermatitis, Atopic, 2 56 29 6 71
Atod2 56 12 73
Dermatitis, Atopic, Susceptibility to, 2 56 13
Dermatitis, Atopic, 2, Susceptibility to 29 6
Atopic Dermatitis 2 12 15
Dermatitis, Atopic, Type 2 39
Dermatitis, Atopic 2 56
Dermatitis Atopic 2 73
Dermatitis, Atopic 71
Atopic Eczema 73

Classifications:



External Ids:

Disease Ontology 12 DOID:0110098
OMIM 56 605803
OMIM Phenotypic Series 56 PS603165
MeSH 43 D003876
MedGen 41 C1853965
UMLS 71 C0011615 C1853965

Summaries for Dermatitis, Atopic, 2

UniProtKB/Swiss-Prot : 73 Dermatitis atopic 2: Atopic dermatitis is a complex, inflammatory disease with multiple alleles at several loci thought to be involved in the pathogenesis. It commonly begins in infancy or early childhood and is characterized by a chronic relapsing form of skin inflammation, a disturbance of epidermal barrier function that culminates in dry skin, and IgE- mediated sensitization to food and environmental allergens. It is manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee.

MalaCards based summary : Dermatitis, Atopic, 2, also known as atod2, is related to ichthyosis and molluscum contagiosum, and has symptoms including pruritus and exanthema. An important gene associated with Dermatitis, Atopic, 2 is FLG (Filaggrin), and among its related pathways/superpathways are Keratinization and Defensins. The drugs carbamide peroxide and Zinc have been mentioned in the context of this disorder. Affiliated tissues include skin, testes and colon.

Disease Ontology : 12 An atopic dermatitis conferred by variation in the FLG gene on chromosome 1q21.

More information from OMIM: 605803 PS603165

Related Diseases for Dermatitis, Atopic, 2

Diseases in the Dermatitis, Atopic family:

Dermatitis, Atopic, 2 Dermatitis, Atopic, 3
Dermatitis, Atopic, 4 Dermatitis, Atopic, 5
Dermatitis, Atopic, 6 Dermatitis, Atopic, 7
Dermatitis, Atopic, 8 Dermatitis, Atopic, 9

Diseases related to Dermatitis, Atopic, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 192)
# Related Disease Score Top Affiliating Genes
1 ichthyosis 30.4 LORICRIN FLG-AS1 FLG
2 molluscum contagiosum 30.1 LORICRIN FLG
3 skin atrophy 30.1 LORICRIN FLG
4 dermatitis 30.0 LORICRIN FLG-AS1 FLG
5 irritant dermatitis 29.9 LORICRIN FLG
6 skin disease 29.8 LORICRIN FLG CDSN
7 psoriasis 4 29.7 LORICRIN CDSN
8 porokeratosis 29.7 LORICRIN FLG
9 ichthyosis vulgaris 29.4 LORICRIN FLG-AS1 FLG CDSN
10 dermatitis, atopic 29.1 LORICRIN FLG-AS1 FLG CDSN
11 hair disease 29.0 LORICRIN CDSN
12 ifap syndrome with or without bresheck syndrome 11.3
13 rhinitis 10.8
14 food allergy 10.8
15 allergic rhinitis 10.8
16 exanthem 10.5
17 contact dermatitis 10.5
18 allergic hypersensitivity disease 10.5
19 milk allergy 10.5
20 respiratory allergy 10.4
21 attention deficit-hyperactivity disorder 10.4
22 allergic asthma 10.4
23 urticaria 10.4
24 allergic contact dermatitis 10.4
25 neurodermatitis 10.4
26 conjunctivitis 10.4
27 herpes simplex 10.4
28 proteasome-associated autoinflammatory syndrome 1 10.3
29 asthma-related traits 4 10.3
30 paroxysmal dystonia 10.3 FLG-AS1 FLG
31 neurofibromatosis, type ii 10.3
32 asthma 10.3
33 hypereosinophilic syndrome 10.3
34 respiratory failure 10.2
35 egg allergy 10.2
36 eczema herpeticum 10.2
37 alopecia 10.2
38 dowling-degos disease 1 10.2
39 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.2
40 anxiety 10.2
41 lymphoma 10.2
42 bacterial infectious disease 10.2
43 toxic shock syndrome 10.2
44 measles 10.2
45 seborrheic dermatitis 10.2
46 48,xyyy 10.2
47 ige responsiveness, atopic 10.2
48 psoriasis 1 10.2
49 pustulosis of palm and sole 10.2
50 psoriasis 10.2

Graphical network of the top 20 diseases related to Dermatitis, Atopic, 2:



Diseases related to Dermatitis, Atopic, 2

Symptoms & Phenotypes for Dermatitis, Atopic, 2

Clinical features from OMIM:

605803

UMLS symptoms related to Dermatitis, Atopic, 2:


pruritus, exanthema

Drugs & Therapeutics for Dermatitis, Atopic, 2

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

(show top 50) (show all 322)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
carbamide peroxide Approved Phase 4 124-43-6
2
Zinc Approved, Investigational Phase 4 7440-66-6 32051
3
Zinc oxide Approved Phase 4 1314-13-2
4
Coal tar Approved Phase 4 8007-45-2
5
Omalizumab Approved, Investigational Phase 4 242138-07-4
6
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
7
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
8
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
9
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
10 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
11
Fluticasone Approved, Experimental Phase 4 90566-53-3 62924
12
Levocetirizine Approved Phase 4 130018-77-8 1549000
13
Montelukast Approved Phase 4 158966-92-8 5281040
14
Desoximetasone Approved Phase 4 382-67-2 5311067
15
Methylprednisolone aceponate Approved, Vet_approved Phase 4 86401-95-8
16
Mupirocin Approved, Investigational, Vet_approved Phase 4 12650-69-0 446596
17
Fluocinonide Approved, Investigational Phase 4 356-12-7 9642
18
tannic acid Approved Phase 4 1401-55-4
19
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
20
mometasone furoate Approved, Investigational, Vet_approved Phase 4 83919-23-7
21
Pimecrolimus Approved, Investigational Phase 4 137071-32-0 17753757 6447131
22
Betamethasone Approved, Vet_approved Phase 4 378-44-9 9782
23
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
24
Lactitol Approved, Investigational Phase 4 585-88-6, 585-86-4 493591
25
Alitretinoin Approved, Investigational Phase 4 5300-03-8 449171 444795
26
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 5280795 6221
27
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
28
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
29
Cortisone Experimental Phase 4 53-06-5 222786
30 Neurotransmitter Agents Phase 4
31 Adrenergic Agents Phase 4
32 Clobetasone butyrate Phase 4
33 Adrenergic alpha-Agonists Phase 4
34 Adrenergic Agonists Phase 4
35 Keratolytic Agents Phase 4
36 Adrenergic beta-Agonists Phase 4
37 Mydriatics Phase 4
38 Sympathomimetics Phase 4
39 Methylprednisolone Acetate Phase 4
40 Emollients Phase 4
41 Bronchodilator Agents Phase 4
42 Histamine H1 Antagonists, Non-Sedating Phase 4
43 Acidophilus Phase 4
44 Leukotriene Antagonists Phase 4
45 decanoic acid Phase 4
46 Neuroprotective Agents Phase 4
47 Evening Primrose Phase 4
48 Linoleate Phase 4
49 Calcium, Dietary Phase 4
50 Phosphodiesterase 4 Inhibitors Phase 4

Interventional clinical trials:

(show top 50) (show all 831)
# Name Status NCT ID Phase Drugs
1 Effect of Moisturizing Creams on Skin Barrier Function Unknown status NCT00771121 Phase 4 urea/lactic acid;Placebo
2 Efficacy of KAM2904 Face Cream and KAM3008 Body Lotion Treatment in Children With Atopic Dermatitis (AD) Unknown status NCT01781663 Phase 4
3 A Randomized Controlled Pilot Study Comparing the Efficacy of Topical Coal Tar to Topical Corticosteroids in Children Aged 1 to < 16 Years With Moderate-severe Atopic Dermatitis Unknown status NCT03461302 Phase 4 Topical coal tar;Topical corticosteroids
4 Bronchiolitis All-study, SE-Norway What is the Optimal Inhalation Treatment for Children 0-12 Months With Acute Bronchiolitis? Unknown status NCT00817466 Phase 4 Racemic adrenaline;Isotonic saline
5 The Role of Anti-IgE (Omalizumab) in the Management of Severe Recalcitrant Paediatric Atopic Eczema Completed NCT02300701 Phase 4 Xolair;Placebo
6 A 3-Month Open Label, National, Quality of Life , and Safety Study With Pimecrolimus Cream, 1% in Children (Age 2-12 Years ) With Atopic Dermatitis Completed NCT00484003 Phase 4 Pimecrolimus cream 1%
7 Prednisolone vs. Ciclosporine in Severe Atopic Eczema Completed NCT00445081 Phase 4 Prednisolone;Ciclosporine A
8 A Multi-Center Study to Assess the Impact of Topical Corticosteroids on the Safety and Efficacy of Protopic Ointment in the Short-Term Treatment of Atopic Dermatitis and to Assess Protopic in the Long-term Management of Atopic Dermatitis Completed NCT00106496 Phase 4 Protopic;Corticosteroid;placebo
9 An Exploratory 16 Week, Double Blind, Placebo-Controlled Single Center Mechanistic Study to Determine the Effect of Rhumab-E25 on Phenotype and Function of IgE Mediated Antigen Presentation by Dendritic Cells in Subjects With Atopic Dermatitis. Completed NCT00822783 Phase 4 Omalizumab;Placebo
10 An Open-label Multicenter 12-month Long Term Study on Skin Reconstitution With Pimecrolimus Cream 1% in Adult Patients With Atopic Eczema and Corticosteroid Induced Skin Damage Completed NCT00367393 Phase 4 Pimecrolimus cream 1%
11 Non-comparative Open-label Study to Investigate the Efficacy, Safety and Systemic Exposure of Pimecrolimus in Adult and Pediatric Patients With Moderate to Severe Atopic Dermatitis Treated Topically for 8.5 Days With Pimecrolimus Cream 1% Under Occlusion Completed NCT00925730 Phase 4 Pimecrolimus
12 Comparative, Multicentre, Randomized, Double-blind Study to Assess the Efficacy of Tacrolimus 0.1% Ointment Versus Fluticasone 0.005% Ointment in Adult Patients Suffering From Moderate to Severe Atopic Dermatitis and Presenting With So-called 'Red Face' Lesions of the Head and Neck. Completed NCT00690105 Phase 4 tacrolimus 0.1%;fluticasone 0.005 %
13 Comparative, Multicentre, Randomised, Double-blind Study to Assess the Efficacy of Tacrolimus 0.03% Ointment Versus Fluticasone 0.005% Ointment in Children Aged 2 Years or Over Suffering From Moderate to Severe Atopic Dermatitis. Completed NCT00689832 Phase 4 Tacrolimus 0.03%;Fluticasone 0.005%
14 Quality of Life Study in Adults With Facial Eczema Completed NCT00120302 Phase 4 Pimecrolimus;Placebo
15 Comparing Efficacy of Topical Steroid Cream vs. Ointment Formulations Using Wet Dressings for Treatment of Atopic Dermatitis Completed NCT02680301 Phase 4 0.1% triamcinolone CREAM;0.1% triamcinolone OINTMENT
16 Phase IV - Evaluation of Cetaphil Advanced Usage to Control Light to Moderate Atopic Dermatitis, in Attempt to Reduce the Necessity of Topic Corticoids Application Completed NCT01063218 Phase 4
17 A Phase IV,Open Label Study of the Treatment of Children With Moderate to Severe Atopic Dermatitis (AD) Using Locobase® REPAIR as an Adjunctive to Standard Treatment Completed NCT00673725 Phase 4 Locobase® REPAIR
18 A Randomized, Investigator Blinded Study of Protopic (Tacrolimus) Ointment Vs. Elidel (Pimecrolimus) Cream in Pediatric Patients With Mild Atopic Dermatitis Completed NCT00667160 Phase 4 tacrolimus ointment;pimecrolimus cream
19 A Randomized, Investigator Blinded Study of Protopic (Tacrolimus) Ointment Vs. Elidel (Pimecrolimus) Cream in Patients With Atopic Dermatitis Completed NCT00666302 Phase 4 tacrolimus ointment;pimecrolimus cream
20 A Randomized, Investigator Blinded Study of Protopic (Tacrolimus) Ointment Vs. Elidel (Pimecrolimus) Cream in Pediatric Patients With Moderate to Severe Atopic Dermatitis Completed NCT00666159 Phase 4 tacrolimus ointment;pimecrolimus cream
21 Pimecrolimus Cream 1% Plus Topical Corticosteroid in Patients (2-17 Years of Age) With Severe Atopic Dermatitis Completed NCT00121381 Phase 4 Pimecrolimus plus topical corticosteroid (TCS);Pimecrolimus vehicle (Placebo) plus topical corticosteroid (TCS)
22 Montelukast as a Controller of Atopic Syndrome Completed NCT00559546 Phase 4 montelukast
23 A Multi-Center, Open-Label Study to Evaluate the Effect of ALTANA Inc's Cutivate (Fluticasone Propionate) Lotion 0.05% on the Hypothalmic Pituitary Adrenal (HPA) Axis in the Treatment of Atopic Dermatitis in a Pediatric Population Completed NCT00546000 Phase 4 Fluticasone propionate 0.05% lotion
24 Efficacy and Safety of Pimecrolimus Cream 1% in Patients ≥ 3 Months of Age With Mild or Moderate Atopic Dermatitis Completed NCT00150059 Phase 4 Pimecrolimus Cream 1%
25 Effects of Pimecrolimus Cream 1% on the Molecular and Cellular Profile of Adult Male Patients With Atopic Dermatitis Completed NCT00117377 Phase 4 Pimecrolimus;Placebo
26 Control of Therapy With Elidel vs Placebo in Patients With Atopic Dermatitis Using Bioengineering Methods Completed NCT00180141 Phase 4 Elidel-Creme
27 Open Label Multicenter Study, 52 Weeks Duration, Using Pimecrolimus Cream 1% for the Long-term Treatment of Mild to Moderate Atopic Dermatitis in Pediatric Patients Within a Usual Clinical Setting Completed NCT00509990 Phase 4 Pimecrolimus
28 Clinical Evaluation of the Effect of Moisturising Cream on Skin Moisture in Atopic Dermatitis Completed NCT00846235 Phase 4
29 The Efficacy and Safety of Tacrolimus Ointment in Pediatric Patients With Moderate to Severe Atopic Dermatitis Completed NCT01782729 Phase 4 Tacrolimus
30 Effect of Cetaphil® Restoraderm® Moisturizer on Very Dry Skin in Children With a Controlled Atopic Dermatitis:a Randomised, Parallel Group Study Completed NCT02589392 Phase 4
31 A Randomized, Investigator-Blind, Six-Week, Parallel Group, Multicenter Pilot Study to Compare the Safety and Efficacy of EpiCeram Skin Barrier Emulsion and Desonide Cream 0.05% in the Twice Daily Treatment of Pediatric Subjects With Moderate Atopic Dermatitis Completed NCT00828412 Phase 4 Desonide Cream 0.05%
32 A Multicenter, 3-week, Randomized, Double-blind, Parallel-group, Vehicle-controlled Study to Evaluate the Efficacy and Safety of Pimecrolimus Cream 1% in Pediatric Patients With Mild to Moderate Atopic Dermatitis Completed NCT00510003 Phase 4 Pimecrolimus
33 A Multicenter, Randomized, Double-blind Clinical Study to Examine the Efficacy and Safety of Zarzenda in Comparison to Elidel in the Management of Mild to Moderate Atopic Dermatitis in Children and Adolescents Completed NCT00568412 Phase 4 Elidel
34 An Open -Label Study to Evaluate the Effect of Pandel Cream 0.1% on the Hypothalamic Pituitary Adrenal Axis in the Pediatric and Adult Population Completed NCT01137032 Phase 4 Pandel Cream 0.1%
35 Comparison of Pimecrolimus Cream 1% Twice-Daily to Once-Daily Dosing in the Management of Atopic Dermatitis in Pediatric Subjects Completed NCT00139581 Phase 4 Pimecrolimus;Pimecrolimus
36 Management of Pruritus With Xyzal in Atopic Dermatitis in a Randomized, Double-Blind, Placebo Controlled Study Completed NCT00884325 Phase 4 Levocetirizine dihydrochloride (Xyzal);placebo
37 Short Term Growth in Children With Atopic Dermatitis Completed NCT00236106 Phase 4 tacrolimus ointment 0.1%;mometasone furoate 0.1%
38 Measuring Adherence to Topical Therapy in Children With Atopic Dermatitis and the Impact of a Return Visit Completed NCT00654355 Phase 4 tacrolimus ointment
39 Double-Blind, Placebo Controlled, Randomized, Multicenter, Parallel-Group Study to Compare the Efficacy and Safety of Advantan Cream Twice Weekly With Advabase Cream During a Maintenance Phase of 16 Weeks After Successful Treatment of Atopic Dermatitis With Advantan Cream Completed NCT00185510 Phase 4 Methylprednisolone Aceponate (Advantan, BAY86-4862);Placebo
40 The Impact of Treating Staphylococcus Aureus Infection and Colonization on the Clinical Severity of Atopic Dermatitis Completed NCT00179959 Phase 4 Sodium hypochlorite (bleach) baths;Mupirocin ointment;Water;Petrolatum Ointment
41 The Efficacy and Safety of Tacrolimus Ointment in Adult Patients With Moderate to Severe Atopic Dermatitis Completed NCT01828879 Phase 4 Tacrolimus
42 Proactive Treatment With Tacrolimus Ointment in Children With Moderate/Severe Atopic Dermatitis: A Randomized, Multicenter, Open-label Study Completed NCT01745159 Phase 4 tacrolimus
43 Effects of a Novel Formulation of Fluocinonide 0.1% Cream on Skin Barrier Function in Atopic Dermatitis Completed NCT00819507 Phase 4 Fluocinonide
44 Prospective Clinical Trial to Assess the Efficacy and Safety of EPOGAM 1000 in Patients With Atopic Dermatitis (Explorative Pilot Study) Completed NCT00878670 Phase 4 EPOGAM 1000
45 Analysis of the Quality of Life, the Clinical Effectiveness and Cost-effectiveness of a Novel Educational Programme in Patients With Psoriasis and Atopic Dermatitis Completed NCT01077882 Phase 4
46 Efficacy and Safety of Pimecrolimus Cream 1% in Patients (2 to 11 Years Old) With Mild to Moderate Facial Atopic Dermatitis Completed NCT00130364 Phase 4 Pimecrolimus;Placebo
47 Safety and Efficacy of Pimecrolimus Cream 1% in Mild to Moderate Head and Neck Atopic Dermatitis (AD) of Patients Intolerant to, or Dependant on, Topical Corticosteroids Completed NCT00121316 Phase 4 Pimecrolimus;Placebo
48 Efficacy of Desonide (Desonatetm) Gel 0.05% in Younger and Older Subjects With Atopic Dermatitis Completed NCT00690833 Phase 4 topical desonide hydrogel 0.05%
49 Efficacy and Tolerability of New Topical Formulations in Subjects With Atopic Dermatitis Completed NCT02732314 Phase 4 Investigational OTC Cream;0.05% Desonide Cream
50 Montelukast as Adjunct Treatment in Children With Atopic Dermatitis Completed NCT02534467 Phase 4 Montelukast

Search NIH Clinical Center for Dermatitis, Atopic, 2

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


Betamethasone
Betamethasone acetate
Betamethasone benzoate
betamethasone dipropionate
betamethasone sodium phosphate
Betamethasone valerate
BETAMETHASONE VALERATE PWDR
Doxepin
Doxepin Hydrochloride
fluocinolone
Fluocinolone Acetonide
methdilazine
Methdilazine hydrochloride
Pimecrolimus
Tacrolimus
Trimeprazine
trimeprazine tartrate
Triprolidine
Triprolidine Hydrochloride
Zinc Oxide

Genetic Tests for Dermatitis, Atopic, 2

Genetic tests related to Dermatitis, Atopic, 2:

# Genetic test Affiliating Genes
1 Dermatitis, Atopic, 2 29 FLG
2 Dermatitis, Atopic, 2, Susceptibility to 29

Anatomical Context for Dermatitis, Atopic, 2

MalaCards organs/tissues related to Dermatitis, Atopic, 2:

40
Skin, Testes, Colon, T Cells, Bone, Heart, Pituitary

Publications for Dermatitis, Atopic, 2

Articles related to Dermatitis, Atopic, 2:

# Title Authors PMID Year
1
Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis. 56 6
17291859 2007
2
Filaggrin loss-of-function mutations predispose to phenotypes involved in the atopic march. 6 56
17030239 2006
3
Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations. 56 6
16815158 2006
4
Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis. 56 6
16550169 2006
5
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. 56 6
16444271 2006
6
Co-localization of susceptibility loci for psoriasis (PSORS4) and atopic dermatitis (ATOD2) on human chromosome 1q21. 56 61
16912508 2006
7
Genetic linkage of childhood atopic dermatitis to psoriasis susceptibility loci. 56
11279517 2001

Variations for Dermatitis, Atopic, 2

ClinVar genetic disease variations for Dermatitis, Atopic, 2:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FLG NM_002016.1(FLG):c.3321del (p.Gly1109fs)deletion Pathogenic 420115 rs200519781 1:152284041-152284041 1:152311565-152311565
2 FLG NM_002016.1(FLG):c.5170G>T (p.Gly1724Ter)SNV Pathogenic 522879 rs747301529 1:152282192-152282192 1:152309716-152309716
3 FLG NM_002016.1(FLG):c.487G>T (p.Gly163Ter)SNV Pathogenic 523875 rs1214424848 1:152286875-152286875 1:152314399-152314399
4 FLG NM_002016.1(FLG):c.7661C>G (p.Ser2554Ter)SNV Pathogenic,risk factor 16321 rs121909626 1:152279701-152279701 1:152307225-152307225
5 FLG NM_002016.1(FLG):c.7339C>T (p.Arg2447Ter)SNV Pathogenic 50932 rs138726443 1:152280023-152280023 1:152307547-152307547
6 FLG NM_002016.1(FLG):c.1501C>T (p.Arg501Ter)SNV Pathogenic/Likely pathogenic 16319 rs61816761 1:152285861-152285861 1:152313385-152313385
7 FLG NM_002016.1(FLG):c.2282_2285delCAGTshort repeat Conflicting interpretations of pathogenicity 16320 rs558269137 1:152285077-152285080 1:152312601-152312604
8 FLG NM_002016.1(FLG):c.7801G>A (p.Asp2601Asn)SNV Conflicting interpretations of pathogenicity 445660 rs146849256 1:152279561-152279561 1:152307085-152307085
9 FLG NM_002016.1(FLG):c.2379_2394delinsTCCTCAG (p.Leu794_Ser798delinsProGln)indel Uncertain significance 547860 rs1553213630 1:152284968-152284983 1:152312492-152312507

Expression for Dermatitis, Atopic, 2

Search GEO for disease gene expression data for Dermatitis, Atopic, 2.

Pathways for Dermatitis, Atopic, 2

Pathways related to Dermatitis, Atopic, 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.71 LORICRIN LCE1B FLG CDSN
2
Show member pathways
11.35 DEFB132 DEFB128 DEFB127 DEFB125 DEFB124

GO Terms for Dermatitis, Atopic, 2

Cellular components related to Dermatitis, Atopic, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.5 DEFB132 DEFB128 DEFB127 DEFB125 DEFB124 CDSN
2 cornified envelope GO:0001533 8.8 LORICRIN FLG CDSN

Biological processes related to Dermatitis, Atopic, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 9.65 DEFB132 DEFB128 DEFB127 DEFB125 DEFB124
2 cornification GO:0070268 9.54 LORICRIN FLG CDSN
3 defense response to Gram-negative bacterium GO:0050829 9.5 DEFB132 DEFB128 DEFB127
4 killing of cells of other organism GO:0031640 9.43 DEFB132 DEFB128
5 peptide cross-linking GO:0018149 9.4 LORICRIN FLG
6 defense response to bacterium GO:0042742 9.35 DEFB132 DEFB128 DEFB127 DEFB125 DEFB124
7 keratinocyte differentiation GO:0030216 9.33 LORICRIN FLG CDSN
8 defense response GO:0006952 9.02 DEFB132 DEFB128 DEFB127 DEFB125 DEFB124

Molecular functions related to Dermatitis, Atopic, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of epidermis GO:0030280 8.62 LORICRIN FLG

Sources for Dermatitis, Atopic, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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