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: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.010 Biomarker disease BEFREE Immunodeficient/Rowett Nude rats received C6 implantation of G55 human glioblastoma cells (10K/each). 26671631 2016
CUI: C0000846
Disease: Agenesis
Agenesis 		0.010 GeneticVariation disease BEFREE Investigation of a patient with a rare homozygous FOXN1 mutation (R255X), leading to alopecia universalis and thymus aplasia, unexpectedly revealed non-maternal circulating T-cells, and, strikingly, large numbers of aberrant double-negative αβ T-cells (CD4negCD8neg, DN) and regulatory-like T-cells. 22590644 2012
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 LHGDN Ancestral founder mutation of the nude (FOXN1) gene in congenital severe combined immunodeficiency associated with alopecia in southern Italy population. 15180707 2004
CUI: C0002170
Disease: Alopecia
Alopecia 		0.140 Biomarker disease HPO
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: C0265992
Disease: alopecia congenita
alopecia congenita 		0.010 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: C0263505
Disease: Alopecia universalis
Alopecia universalis 		0.010 GeneticVariation disease BEFREE Investigation of a patient with a rare homozygous FOXN1 mutation (R255X), leading to alopecia universalis and thymus aplasia, unexpectedly revealed non-maternal circulating T-cells, and, strikingly, large numbers of aberrant double-negative αβ T-cells (CD4negCD8neg, DN) and regulatory-like T-cells. 22590644 2012
CUI: C0002902
Disease: Anencephaly
Anencephaly 		0.010 GeneticVariation disease BEFREE FOXN1 homozygous mutation associated with anencephaly and severe neural tube defect in human athymic Nude/SCID fetus. 18339010 2008
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.010 GeneticVariation disease BEFREE Our results frame a possible link of RA regulation in brain to ASD etiology, and a feasible non-additive effect of two apparently unrelated variants in ALDH1A3 and FOXN1 recognizing that every result given by next generation sequencing should be cautiously analyzed, as it might be an incidental finding. 26352270 2015
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.100 GeneticVariation disease CLINVAR
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 Biomarker phenotype BEFREE This review analyzes the pleiotropic effects of FOXN1 in the skin, its function in the tumorigenesis process, and its potential role in depletion of the stem cell niche after injury, as well as its suggested mechanistic role, acting in a cell-autonomous and a non-cell-autonomous manner during skin self-renewal. 28606930 2017
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.010 AlteredExpression disease BEFREE Moreover, the T-cell reduction in chd7-deficient embryos was partially rescued by overexpressing foxn1, suggesting that restoring thymic epithelium may be a potential therapeutic strategy for treating immunodeficiency in CHARGE syndrome. 29353058 2018
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.010 Biomarker disease BEFREE Immunodeficient/Rowett Nude rats received C6 implantation of G55 human glioblastoma cells (10K/each). 26671631 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 GeneticVariation disease CLINVAR
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: C4025175
Disease: Congenital alopecia totalis
Congenital alopecia totalis 		0.100 Biomarker disease HPO
CUI: C3495530
Disease: Congenital alopecia X-linked
Congenital alopecia X-linked 		0.010 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: C0392485
Disease: Congenital diverticulum of pharynx
Congenital diverticulum of pharynx 		0.010 AlteredExpression disease BEFREE Tbx1Cre/+;Foxi3f/f embryos had failed invagination of the third pharyngeal pouch with greatly reduced Gcm2 and Foxn1 expression, thereby explaining the absence of thymus and parathyroid glands. 31412026 2019
CUI: C2936812
Disease: Congenital hypertrichosis
Congenital hypertrichosis 		0.010 GeneticVariation disease BEFREE As far as we are aware, this is the first case of FOXN1 duplication associated with congenital hypertrichosis to be reported in the literature. 28297140 2017
CUI: C0235864
Disease: Congenital hypertrichosis lanuginosa
Congenital hypertrichosis lanuginosa 		0.010 GeneticVariation disease BEFREE As far as we are aware, this is the first case of FOXN1 duplication associated with congenital hypertrichosis to be reported in the literature. 28297140 2017