Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 11005
Gene Symbol: SPINK5
SPINK5
0.200 GeneticVariation disease BEFREE The inhibitory activities of the LEKTI domain 4 (D4) and D6 WT and AD-associated mutants on the enzyme activities of KLK5 and KLK7 were compared using fluorogenic substrates. 31407378 2020
Entrez Id: 11005
Gene Symbol: SPINK5
SPINK5
0.200 AlteredExpression disease BEFREE LEKTI expression in normal human skin and lesions from psoriasis or atopic dermatitis (AD) were analyzed by immunohistochemically and tape-stripping. 31501002 2019
Entrez Id: 11005
Gene Symbol: SPINK5
SPINK5
0.200 AlteredExpression disease BEFREE This ineffective KLK activation was associated with impaired KLK7 secretion from lamellar granules and increased expression of LEKTI in AD. 27769847 2017
Entrez Id: 11005
Gene Symbol: SPINK5
SPINK5
0.200 GeneticVariation disease BEFREE Mutations in the human filaggrin gene (FLG) are the most significant and well-replicated genetic mutation associated with AD, and other mutations associated with epidermal barriers such as SPINK5, FLG-2, SPRR3, and CLDN1 have all been linked to AD. 26385242 2016
Entrez Id: 11005
Gene Symbol: SPINK5
SPINK5
0.200 Biomarker disease BEFREE Although best known are mutations in filaggrin (FLG), mutations in other member of the fused S-100 family of proteins (ie, hornerin [hrn] and filaggrin 2 [flg-2]); the cornified envelope precursor (ie, SPRR3); mattrin, which is encoded by TMEM79 and regulates the assembly of lamellar bodies; SPINK5, which encodes the serine protease inhibitor lymphoepithelial Kazal-type trypsin inhibitor type 1; and the fatty acid transporter fatty acid transport protein 4 have all been linked to AD. 25131691 2014
Entrez Id: 11005
Gene Symbol: SPINK5
SPINK5
0.200 GeneticVariation disease BEFREE For the four non-synonymous SNPs, A1103G(Asn368Ser), G1156A(Asp386Asn), G1258A(Glu420Lys), G2475T(Glu825Asp) in SPINK5, the allelic frequencies in the AD cohort were 0.55 for 1103G, 0.57 for 1156A, 0.54for 1258A, 0.62 for 2475T, consistent with those already published in the original British and Japanese cohorts. 21585560 2012
Entrez Id: 11005
Gene Symbol: SPINK5
SPINK5
0.200 GeneticVariation disease BEFREE Several studies also reported genetic association between the multifactorial disease atopic dermatitis (AD) and a frequent and non-conservative LEKTI variant, E420K, in different populations. 22730493 2012
Entrez Id: 11005
Gene Symbol: SPINK5
SPINK5
0.200 GeneticVariation disease BEFREE Yet, recent information suggests that the inflammation in AD instead is initiated by inherited insults to the barrier, including a strong association between mutations in FILAGGRIN and SPINK5 in Netherton syndrome, the latter of which provides an important clue that AD is provoked by excess serine protease activity. 21174234 2011
Entrez Id: 11005
Gene Symbol: SPINK5
SPINK5
0.200 GeneticVariation disease BEFREE We also found that four SNPs [rs17718511 (P = 0.033), rs17860502 (P = 0.031), rs60978485 (P = 0.005), rs17718737 (P = 0.023)] and the haplotype TAA (P = 0.02) in the SPINK5 gene showed associations with the susceptibility of the allergic type of AD (ADe). 21087323 2010
Entrez Id: 11005
Gene Symbol: SPINK5
SPINK5
0.200 GeneticVariation disease BEFREE There were also highly significant associations (P<0.001) between SPINK5 variants and visible eczema (but not IgE levels) and between IL13 variants and total IgE. 20085599 2009
Entrez Id: 11005
Gene Symbol: SPINK5
SPINK5
0.200 Biomarker disease BEFREE Finally, we discuss the pathophysiological implications of LEKTI-1 in skin biology as well as its contribution to the pathogenesis of Netherton Syndrome and its potential involvement in atopic dermatitis. 19467033 2009
Entrez Id: 11005
Gene Symbol: SPINK5
SPINK5
0.200 Biomarker disease BEFREE The study also disclosed the necessity of functional analyses in addition to genetic investigations to gain further and more detailed insights into the role of LEKTI in AD. 19522716 2009
Entrez Id: 11005
Gene Symbol: SPINK5
SPINK5
0.200 GeneticVariation disease BEFREE Recently, single nucleotide polymorphism (SNP) of the SPINK5 was shown to be significantly associated with atopy, atopic dermatitis, asthma, and total serum IgE. 19534795 2009
Entrez Id: 11005
Gene Symbol: SPINK5
SPINK5
0.200 GeneticVariation disease BEFREE G1258A polymorphism in SPINK5 may be associated with atopic dermatitis, which shares several clinical features with NS. 19438860 2009
Entrez Id: 11005
Gene Symbol: SPINK5
SPINK5
0.200 GeneticVariation disease BEFREE The SPINK5 420LysSer mutation confers a risk of eczema when maternally inherited but is not a major eczema risk factor. 18774391 2008
Entrez Id: 11005
Gene Symbol: SPINK5
SPINK5
0.200 Biomarker disease BEFREE Variants on three candidate genes (SPINK5, KLK7 and FLG) have been associated with atopic dermatitis. 17989887 2007
Entrez Id: 11005
Gene Symbol: SPINK5
SPINK5
0.200 Biomarker disease BEFREE Because our patients were ascertained for asthma, a role of SPINK5 in atopic dermatitis cannot be excluded. 15753894 2005
Entrez Id: 11005
Gene Symbol: SPINK5
SPINK5
0.200 GeneticVariation disease BEFREE These results suggest that SPINK5 Glu420Lys polymorphism may be associated with certain asthma phenotypes characterized by the concomitant expression of asthma and atopic dermatitis or SPT reactivity. 15005725 2004
Entrez Id: 11005
Gene Symbol: SPINK5
SPINK5
0.200 AlteredExpression disease BEFREE To investigate the expression of LEKTI in the skin of patients with NS in comparison with normal controls and patients with other skin conditions, namely atopic dermatitis, psoriasis and nonbullous ichthyosiform erythroderma. 15606522 2004
Entrez Id: 11005
Gene Symbol: SPINK5
SPINK5
0.200 Biomarker disease BEFREE Our data indicate that the SPINK5 gene is associated with AD across ethnicities. 14551605 2003
Entrez Id: 11005
Gene Symbol: SPINK5
SPINK5
0.200 Biomarker disease BEFREE This study confirms the previous suggestion of an association between SPINK5 and AD. 12752122 2003
Entrez Id: 11005
Gene Symbol: SPINK5
SPINK5
0.200 Biomarker disease HPO