Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8456
Gene Symbol: FOXN1
FOXN1
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		0.230 GeneticVariation 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
Entrez Id: 8456
Gene Symbol: FOXN1
FOXN1
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		0.230 GeneticVariation 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
Entrez Id: 8456
Gene Symbol: FOXN1
FOXN1
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		0.230 AlteredExpression 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