FOXN1, forkhead box N1, 8456

N. diseases: 60; N. variants: 5
Disease: Congenital absence of thymus ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 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