| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.080 | GeneticVariation | disease | BEFREE | Both patients had a presentation consistent with T-/loB+NK+ SCID, with normal hair and nails, distinct from the classic nude/SCID phenotype in individuals with autosomal-recessive FOXN1 mutations. | 31566583 | 2019 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | Severe combined immunodeficiency (SCID) is an extremely rare disease caused by a disruption in the forkhead box N1 (<i>FOXN1</i>) gene, with an incidence of <1 per 1 000 000 live births. | 31151968 | 2019 | ||||
|
0.080 | Biomarker | disease | BEFREE | FOXN1 deficient nude severe combined immunodeficiency. | 28077132 | 2017 | ||||
|
0.080 | AlteredExpression | disease | BEFREE | The transcription factor FOXN1 is implicated in the differentiation of thymic and skin epithelial cells, and alterations in it are responsible for the Nude/SCID phenotype. | 21507891 | 2011 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | Among these genes, FOXN1 encodes a protein whose alteration is responsible for the Nude/SCID phenotype. | 20864124 | 2010 | ||||
|
0.080 | Biomarker | disease | BEFREE | Thus, the present chapter will focus on the information that came out from the original description of the human Nude/SCID phenotype and on the role of FOXN1 and of the other members of FOX subfamilies in those immunological disorders characterized by abnormal T-cell development or abnormal T-cell regulatory homeostasis. | 20429426 | 2009 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | Alterations of the FOXN1 gene in both mice and humans result in a severe combined immunodeficiency caused by an intrinsic defect of the thymus associated with congenital alopecia (Nude/severe combined immunodeficiency phenotype). | 18339010 | 2008 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | Ancestral founder mutation of the nude (FOXN1) gene in congenital severe combined immunodeficiency associated with alopecia in southern Italy population. | 15180707 | 2004 | ||||
|
0.080 | GeneticVariation | disease | LHGDN | Ancestral founder mutation of the nude (FOXN1) gene in congenital severe combined immunodeficiency associated with alopecia in southern Italy population. | 15180707 | 2004 |