Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
0.010 AlteredExpression disease BEFREE Conversely, overexpression of NS significantly promotes STAT3 phosphorylation. 31785228 2020
Entrez Id: 25818
Gene Symbol: KLK5
KLK5
0.070 Biomarker disease BEFREE The connection between Netherton syndrome and overactivation of epidermal/dermal proteases, particularly Kallikrein 5 (KLK5) has been well established and it is expected that a KLK5 inhibitor would improve the dermal barrier and also reduce the pain and itch that afflict Netherton syndrome patients. 31521475 2019
Entrez Id: 11005
Gene Symbol: SPINK5
SPINK5
1.000 Biomarker disease BEFREE Netherton syndrome (NS) is a rare but severe type of ichthyosis characterized by atopy, allergies, and potentially lethal skin overdesquamation associated with highly elevated proteolytic activities in LEKTI-deficient epidermis. 31255470 2019
Entrez Id: 5653
Gene Symbol: KLK6
KLK6
0.010 Biomarker disease BEFREE To investigate in vivo whether KLK6 is implicated in epidermal overdesquamation and/or inflammation associated with NS. 31255470 2019
Entrez Id: 25818
Gene Symbol: KLK5
KLK5
0.070 Biomarker disease BEFREE Structure guided drug design to develop kallikrein 5 inhibitors to treat Netherton syndrome. 31005442 2019
Entrez Id: 11005
Gene Symbol: SPINK5
SPINK5
1.000 Biomarker disease BEFREE The novel functional link between LEKTI and TG1 should be taken into account when considering the development of a targeted topical protein therapy for Netherton syndrome. 30801672 2019
Entrez Id: 7051
Gene Symbol: TGM1
TGM1
0.010 Biomarker disease BEFREE LEKTI domains D6, D7 and D8+9 serve as substrates for transglutaminase 1: implications for targeted therapy of Netherton syndrome. 30801672 2019
Entrez Id: 10923
Gene Symbol: SUB1
SUB1
0.010 Biomarker disease BEFREE Genome wide genotyping data revealed a total of 16, 5 and 6 digenic interactions were detected under RS conditions in low yielding NILs of IR64, TDK1-Sub1 and Savitri respectively while no significant interaction was found in high yielding NILs under RS and NS conditions in any of the genetic backgrounds used in this study. 30796339 2019
Entrez Id: 25818
Gene Symbol: KLK5
KLK5
0.070 Biomarker disease BEFREE Identification of potent and selective KLK5 inhibitors would enable further exploration of the disease biology and could ultimately lead to a treatment for NS. 30691925 2019
Entrez Id: 2875
Gene Symbol: GPT
GPT
0.010 Biomarker disease BEFREE A 21-year-old man with Netherton syndrome underwent investigation of a persistently elevated serum alanine transaminase, detected on routine monitoring. 30567081 2018
Entrez Id: 11005
Gene Symbol: SPINK5
SPINK5
1.000 GeneticVariation disease BEFREE Netherton syndrome (NS) is a rare life-threatening syndrome caused by SPINK5 mutations leading to a skin barrier defect and a severe atopic diathesis. 30477583 2018
Entrez Id: 11005
Gene Symbol: SPINK5
SPINK5
1.000 GeneticVariation disease BEFREE LEKTI is known to be an essential molecule for the epidermal skin barrier, as demonstrated by SPINK5 nonsense mutation, which results in Netherton syndrome. 30270115 2018
Entrez Id: 27177
Gene Symbol: IL36B
IL36B
0.010 Biomarker disease BEFREE Although striking upregulation of TH17 pathway genes (IL17F and IL36B/G) resembling that seen in patients with psoriasis was common to all patients with ichthyoses in a severity-related manner, patients with Netherton syndrome showed the greatest T-cell activation (inducible costimulator [ICOS]) and a broader immune phenotype with T<sub>H</sub>1/IFN-γ, OASL, and T<sub>H</sub>2/IL-4 receptor/IL-5 skewing, although less than seen in patients with AD (all P < .05). 29803800 2019
Entrez Id: 3458
Gene Symbol: IFNG
IFNG
0.010 Biomarker disease BEFREE Although striking upregulation of TH17 pathway genes (IL17F and IL36B/G) resembling that seen in patients with psoriasis was common to all patients with ichthyoses in a severity-related manner, patients with Netherton syndrome showed the greatest T-cell activation (inducible costimulator [ICOS]) and a broader immune phenotype with T<sub>H</sub>1/IFN-γ, OASL, and T<sub>H</sub>2/IL-4 receptor/IL-5 skewing, although less than seen in patients with AD (all P < .05). 29803800 2019
Entrez Id: 29851
Gene Symbol: ICOS
ICOS
0.010 Biomarker disease BEFREE Although striking upregulation of TH17 pathway genes (IL17F and IL36B/G) resembling that seen in patients with psoriasis was common to all patients with ichthyoses in a severity-related manner, patients with Netherton syndrome showed the greatest T-cell activation (inducible costimulator [ICOS]) and a broader immune phenotype with T<sub>H</sub>1/IFN-γ, OASL, and T<sub>H</sub>2/IL-4 receptor/IL-5 skewing, although less than seen in patients with AD (all P < .05). 29803800 2019
Entrez Id: 112744
Gene Symbol: IL17F
IL17F
0.010 Biomarker disease BEFREE Although striking upregulation of TH17 pathway genes (IL17F and IL36B/G) resembling that seen in patients with psoriasis was common to all patients with ichthyoses in a severity-related manner, patients with Netherton syndrome showed the greatest T-cell activation (inducible costimulator [ICOS]) and a broader immune phenotype with T<sub>H</sub>1/IFN-γ, OASL, and T<sub>H</sub>2/IL-4 receptor/IL-5 skewing, although less than seen in patients with AD (all P < .05). 29803800 2019
Entrez Id: 50616
Gene Symbol: IL22
IL22
0.010 Biomarker disease BEFREE Significantly elevated IL-17- (P < 0.05) and IL-22-producing (P < 0.01) T cells characterized ichthyoses, mainly Netherton syndrome and congenital ichthyosiform erythroderma (P < 0.05). 29660300 2018
Entrez Id: 3605
Gene Symbol: IL17A
IL17A
0.010 Biomarker disease BEFREE Significantly elevated IL-17- (P < 0.05) and IL-22-producing (P < 0.01) T cells characterized ichthyoses, mainly Netherton syndrome and congenital ichthyosiform erythroderma (P < 0.05). 29660300 2018
Entrez Id: 25818
Gene Symbol: KLK5
KLK5
0.070 AlteredExpression disease BEFREE Kallikrein-related peptidases KLK5, KLK7 and KLK14 are important proteases in skin desquamation and aberrant KLK activity is associated with inflammatory skin diseases such as Netherton syndrome but also with various serious forms of cancer. 29494334 2018
Entrez Id: 5650
Gene Symbol: KLK7
KLK7
0.050 AlteredExpression disease BEFREE Kallikrein-related peptidases KLK5, KLK7 and KLK14 are important proteases in skin desquamation and aberrant KLK activity is associated with inflammatory skin diseases such as Netherton syndrome but also with various serious forms of cancer. 29494334 2018
Entrez Id: 43847
Gene Symbol: KLK14
KLK14
0.010 AlteredExpression disease BEFREE Kallikrein-related peptidases KLK5, KLK7 and KLK14 are important proteases in skin desquamation and aberrant KLK activity is associated with inflammatory skin diseases such as Netherton syndrome but also with various serious forms of cancer. 29494334 2018
Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
0.020 GeneticVariation disease BEFREE The extent and the grade of cartilage damage in the VEGF‑injected group were notably more severe compared with those in the NS‑treated group. 29488610 2018
Entrez Id: 79671
Gene Symbol: NLRX1
NLRX1
0.010 Biomarker disease BEFREE Additionally, three aquaporin genes (AQPs) including two plasma membrane intrinsic protein genes (PlPIP1;2, PlPIP2;1) and one NOD26-like intrinsic protein gene (PlNIP) were isolated, PlPIP1;2, and PlPIP2;1 that were induced by NS treatment took common effects on maintaining the water balance of cut P. lactiflora flowers. 29359232 2018
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.010 Biomarker disease BEFREE A total of 64 Sprague‑Dawley rats were randomly divided into the following four groups: Sham‑operated rats with normal saline (NS)‑treatment (n=16); anterior cruciate ligament transection with partial medial meniscectomy (ACLT + MMx) rats with NS‑treatment (n=16); sham‑operated rats treated with PTH 1‑34 (n=16); and ACLT + MMx rats treated with PTH 1‑34 (n=16). 29039525 2017
Entrez Id: 11005
Gene Symbol: SPINK5
SPINK5
1.000 Biomarker disease GENOMICS_ENGLAND Is c.1431-12G>A A common European mutation of <i>SPINK5?</i> report of a patient with Netherton Syndrome. 28289593 2016