FOXN1, forkhead box N1, 8456

N. diseases: 60; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1866426
Disease: T-cell immunodeficiency, congenital alopecia and nail dystrophy
T-cell immunodeficiency, congenital alopecia and nail dystrophy 		0.910 GeneticVariation disease BEFREE A mutation in FoxN1 generates alymphoid cystic thymic dysgenesis due to defective TECs, causing primary T-cell immunodeficiency, named Nude/SCID syndrome, and leads to a hairless "nude" phenotype in both mice and humans. 24432845 2014
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		0.230 AlteredExpression disease BEFREE Our findings illustrate the complexities of the early steps of thymopoiesis and indicate that sporadic forms of thymic hypoplasia in humans may result from the interaction of genes affecting the magnitude of BMP signalling and Foxn1 expression. 28819138 2017
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		0.230 GeneticVariation disease BEFREE The mice with the Foxn1 compound heterozygous mutations had thymic hypoplasia, causing a T-B+NK+ SCID phenotype, whereas the hair and nails of these mice were normal. 31566583 2019
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		0.230 GeneticVariation disease BEFREE Thymic hypoplasia/aplasia occurs as a part of DiGeorge syndrome, which has several known genetic causes, and with loss-of-function mutations in forkhead box N1 (FOXN1). 31600545 2020
CUI: C0002170
Disease: Alopecia
Alopecia 		0.140 GeneticVariation disease BEFREE Mutations in the winged-helix-nude (WHN) gene in the nude mouse and rat phenotypes lead to loss of hair and athymia. 10483588 1999
CUI: C0002170
Disease: Alopecia
Alopecia 		0.140 GeneticVariation disease BEFREE The SSC7 region contains the forkhead box N3 (FOXN3) gene, the most plausible candidate gene of this region, considering that mutations in another gene of the same family (forkhead box N1; Foxn1 or FOXN1) are responsible for the nude locus in rodents and alopecia in humans. 29672877 2018
CUI: C0002170
Disease: Alopecia
Alopecia 		0.140 AlteredExpression disease BEFREE Alterations in the transcription factor FOXN1 gene, expressed in the mature thymic and skin epithelia, are responsible for human and murine athymia and prevent the development of the T-cell compartment associated to ectodermal abnormalities such as alopecia and nail dystrophy. 25774666 2016
CUI: C0002170
Disease: Alopecia
Alopecia 		0.140 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
CUI: C0221260
Disease: Dystrophia unguium
Dystrophia unguium 		0.130 GeneticVariation disease BEFREE As in mice, also in humans this form is characterized by an intrinsic defect of the thymus, congenital alopecia and nail dystrophy and is due to mutations of the FOXN1 gene, as well. 20429426 2009
CUI: C0221260
Disease: Dystrophia unguium
Dystrophia unguium 		0.130 Biomarker disease BEFREE FOXN1 deficiency leads to thymic aplasia, alopecia, and nail dystrophy, accounting for the nude/severe combined immunodeficiency (nu/SCID) phenotype in humans and mice. 31447097 2019
CUI: C0221260
Disease: Dystrophia unguium
Dystrophia unguium 		0.130 AlteredExpression disease BEFREE Alterations in the transcription factor FOXN1 gene, expressed in the mature thymic and skin epithelia, are responsible for human and murine athymia and prevent the development of the T-cell compartment associated to ectodermal abnormalities such as alopecia and nail dystrophy. 25774666 2016
CUI: C0685894
Disease: Congenital absence of thymus
Congenital absence of thymus 		0.130 GeneticVariation disease BEFREE Mutations in the winged-helix-nude (WHN) gene in the nude mouse and rat phenotypes lead to loss of hair and athymia. 10483588 1999
CUI: C0685894
Disease: Congenital absence of thymus
Congenital absence of thymus 		0.130 Biomarker disease BEFREE FOXN1 deficiency leads to thymic aplasia, alopecia, and nail dystrophy, accounting for the nude/severe combined immunodeficiency (nu/SCID) phenotype in humans and mice. 31447097 2019
CUI: C0685894
Disease: Congenital absence of thymus
Congenital absence of thymus 		0.130 AlteredExpression disease BEFREE Alterations in the transcription factor FOXN1 gene, expressed in the mature thymic and skin epithelia, are responsible for human and murine athymia and prevent the development of the T-cell compartment associated to ectodermal abnormalities such as alopecia and nail dystrophy. 25774666 2016
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		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
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		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
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		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
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		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
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		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
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		0.080 Biomarker disease BEFREE FOXN1 deficient nude severe combined immunodeficiency. 28077132 2017
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		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
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		0.080 GeneticVariation disease BEFREE Among these genes, FOXN1 encodes a protein whose alteration is responsible for the Nude/SCID phenotype. 20864124 2010
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.050 Biomarker group BEFREE In conclusion, the present study demonstrated that FOXN1 served major roles in NSCLC proliferation and invasion by directly repressing EZH2 and β-catenin, which suggested that FOXN1 may function as a tumor suppressor in NSCLC. 29725441 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.050 Biomarker group BEFREE To determine whether Wnt4 and FoxN1 are involved in the pathogenesis of thymoma, this study determined the mRNA and protein levels of Wnt4 and Foxn1 in thymoma, and analyzed the effect of thymoma cell apoptosis and tumor growth in nude mice after Wnt4 and FoxN1 downregulation. 28740671 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.050 AlteredExpression group BEFREE Knockdown of FOXN1 expression in primary human keratinocytes cooperated with oncogenic RAS in the induction of SCC-like tumors, whereas increased FOXN1 expression triggered the SCC cells to shift to a benign SK-like tumor phenotype, which included increased FGFR3 expression. 19729838 2009