Table 1.
#SNPsa | Gene | Full Gene Name | Chr. | Reported Processes and Functionc | Reported Associated Disordersd |
---|---|---|---|---|---|
8b | FLG | filaggrin | 1q21.3 | Keratinocyte differentiation, multicellular organismal development, cytoplasmic membrane bounded vesicle, intermediate filament, structural molecule activity | atopic dermatitis, eczema, ichthyosis vulgaris, asthma, rheumatoid arthritis, psoriasis, skin diseases, ichythyosis, atopy, inflammation |
| |||||
13 | SPINK 5 | Serine protease inhibitor Kazal-type 5 | 5q32 | Peptidase inhibitor activity, serine-type endopeptidase inhibitor activity | Netherton syndrome, atopic dermatitis, asthma, skin diseases, congenital ichthyosis, atopy, congenital erythroderma ichthyosiform, ichthyosis, psoriasis, growth retardation |
| |||||
8 | TSLP | Thymic stromal lymphopoietin | 5q22.1 | Extracellular region and space, cytokine activity, protein binding | inflammation, asthma, atopic dermatitis, necrosis, tumors, allergic asthma, skin lesions, mixed cryoglobulinemia, allergy, membranoproliferative glomerulonephritis |
Indicates the total number of tagging SNPs that entered the analyses.
This includes the 2282del4 deletion and R501X truncation.
Obtained from Gene Ontology website (www.geneontology.org).
Reported disease associations were obtained from the top 10 Novoseek disease relationships hits (number of articles in which both the gene's symbol or description and the disease appear) from GeneCards® (www.genecards.org).