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: C0685891
Disease: Congenital hypoplasia of thymus
Congenital hypoplasia of thymus
0.020 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: C0685891
Disease: Congenital hypoplasia of thymus
Congenital hypoplasia of thymus
0.020 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