FOXN1, forkhead box N1, 8456

N. diseases: 60; N. variants: 5
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555609768
rs1555609768
Entrez Id: 8456
Gene Symbol: FOXN1
FOXN1
CUI: C1866426
Disease:
T-cell immunodeficiency, congenital alopecia and nail dystrophy 		T 0.700 GeneticVariation CLINVAR Ancestral founder mutation of the nude (FOXN1) gene in congenital severe combined immunodeficiency associated with alopecia in southern Italy population. 15180707 2004
dbSNP: rs1555609768
rs1555609768
Entrez Id: 8456
Gene Symbol: FOXN1
FOXN1
CUI: C1866426
Disease:
T-cell immunodeficiency, congenital alopecia and nail dystrophy 		T 0.700 GeneticVariation CLINVAR Exposing the human nude phenotype. 10206641 1999
dbSNP: rs104894562
rs104894562
Entrez Id: 8456
Gene Symbol: FOXN1
FOXN1
CUI: C1866426
Disease:
T-cell immunodeficiency, congenital alopecia and nail dystrophy 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1567886959
rs1567886959
Entrez Id: 8456
Gene Symbol: FOXN1
FOXN1
CUI: C1849075
Disease:
Relative macrocephaly 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1567886959
rs1567886959
Entrez Id: 8456
Gene Symbol: FOXN1
FOXN1
CUI: C4025208
Disease:
Severe T-cell immunodeficiency 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1567886959
rs1567886959
Entrez Id: 8456
Gene Symbol: FOXN1
FOXN1
CUI: C0685894
Disease:
Congenital absence of thymus 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1567887558
rs1567887558
Entrez Id: 8456
Gene Symbol: FOXN1
FOXN1
CUI: C1866426
Disease:
T-cell immunodeficiency, congenital alopecia and nail dystrophy 		CCA 0.700 CausalMutation CLINVAR
dbSNP: rs797046135
rs797046135
Entrez Id: 8456
Gene Symbol: FOXN1
FOXN1
CUI: C0004352
Disease:
Autistic Disorder 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs104894562
rs104894562
Entrez Id: 8456
Gene Symbol: FOXN1
FOXN1
CUI: C0263505
Disease:
Alopecia universalis 		0.010 GeneticVariation 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
dbSNP: rs104894562
rs104894562
Entrez Id: 8456
Gene Symbol: FOXN1
FOXN1
CUI: C0000846
Disease:
Agenesis 		0.010 GeneticVariation 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