Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 11005
Gene Symbol: SPINK5
SPINK5
0.030 GeneticVariation disease BEFREE Netherton syndrome (NS) is a congenital ichthyosiform dermatosis caused by serine protease inhibitor Kazal-type 5 (SPINK5) mutations. 17989726 2008
Entrez Id: 11005
Gene Symbol: SPINK5
SPINK5
0.030 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
0.030 GeneticVariation disease BEFREE Deleterious mutations in SPINK5 in a patient with congenital ichthyosiform erythroderma: molecular testing as a helpful diagnostic tool for Netherton syndrome. 15347338 2004