Gene: NR0B1 ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28935481
rs28935481
NR0B1
0.810 GeneticVariation UNIPROT A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism. 10675358

2000
dbSNP: rs104894888
rs104894888
NR0B1
0.800 GeneticVariation UNIPROT A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism. 10675358

2000
dbSNP: rs104894896
rs104894896
NR0B1
0.800 GeneticVariation UNIPROT A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism. 10675358

2000
dbSNP: rs104894899
rs104894899
NR0B1
0.800 GeneticVariation UNIPROT A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism. 10675358

2000
dbSNP: rs104894900
rs104894900
NR0B1
0.800 GeneticVariation UNIPROT A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism. 10675358

2000
dbSNP: rs104894907
rs104894907
NR0B1
0.800 GeneticVariation UNIPROT A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism. 10675358

2000
dbSNP: rs28935482
rs28935482
NR0B1
0.800 GeneticVariation UNIPROT A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism. 10675358

2000
dbSNP: rs104894897
rs104894897
NR0B1
0.810 GeneticVariation UNIPROT A transcriptional silencing domain in DAX-1 whose mutation causes adrenal hypoplasia congenita. 9415399

1997
dbSNP: rs28935481
rs28935481
NR0B1
0.810 GeneticVariation UNIPROT A transcriptional silencing domain in DAX-1 whose mutation causes adrenal hypoplasia congenita. 9415399

1997
dbSNP: rs104894888
rs104894888
NR0B1
0.800 GeneticVariation UNIPROT A transcriptional silencing domain in DAX-1 whose mutation causes adrenal hypoplasia congenita. 9415399

1997
dbSNP: rs104894896
rs104894896
NR0B1
0.800 GeneticVariation UNIPROT A transcriptional silencing domain in DAX-1 whose mutation causes adrenal hypoplasia congenita. 9415399

1997
dbSNP: rs104894899
rs104894899
NR0B1
0.800 GeneticVariation UNIPROT A transcriptional silencing domain in DAX-1 whose mutation causes adrenal hypoplasia congenita. 9415399

1997
dbSNP: rs104894900
rs104894900
NR0B1
0.800 GeneticVariation UNIPROT A transcriptional silencing domain in DAX-1 whose mutation causes adrenal hypoplasia congenita. 9415399

1997
dbSNP: rs104894907
rs104894907
NR0B1
0.800 GeneticVariation UNIPROT A transcriptional silencing domain in DAX-1 whose mutation causes adrenal hypoplasia congenita. 9415399

1997
dbSNP: rs28935482
rs28935482
NR0B1
0.800 GeneticVariation UNIPROT A transcriptional silencing domain in DAX-1 whose mutation causes adrenal hypoplasia congenita. 9415399

1997
dbSNP: rs104894897
rs104894897
NR0B1
0.810 GeneticVariation UNIPROT Active hypothalamic-pituitary-gonadal axis in an infant with X-linked adrenal hypoplasia congenita. 9063431

1997
dbSNP: rs28935481
rs28935481
NR0B1
0.810 GeneticVariation UNIPROT Active hypothalamic-pituitary-gonadal axis in an infant with X-linked adrenal hypoplasia congenita. 9063431

1997
dbSNP: rs104894888
rs104894888
NR0B1
0.800 GeneticVariation UNIPROT Active hypothalamic-pituitary-gonadal axis in an infant with X-linked adrenal hypoplasia congenita. 9063431

1997
dbSNP: rs104894896
rs104894896
NR0B1
0.800 GeneticVariation UNIPROT Active hypothalamic-pituitary-gonadal axis in an infant with X-linked adrenal hypoplasia congenita. 9063431

1997
dbSNP: rs104894899
rs104894899
NR0B1
0.800 GeneticVariation UNIPROT Active hypothalamic-pituitary-gonadal axis in an infant with X-linked adrenal hypoplasia congenita. 9063431

1997
dbSNP: rs104894900
rs104894900
NR0B1
0.800 GeneticVariation UNIPROT Active hypothalamic-pituitary-gonadal axis in an infant with X-linked adrenal hypoplasia congenita. 9063431

1997
dbSNP: rs104894907
rs104894907
NR0B1
0.800 GeneticVariation UNIPROT Active hypothalamic-pituitary-gonadal axis in an infant with X-linked adrenal hypoplasia congenita. 9063431

1997
dbSNP: rs28935482
rs28935482
NR0B1
0.800 GeneticVariation UNIPROT Active hypothalamic-pituitary-gonadal axis in an infant with X-linked adrenal hypoplasia congenita. 9063431

1997
dbSNP: rs104894897
rs104894897
NR0B1
0.810 GeneticVariation UNIPROT Consistent with the patient's mild clinical phenotype, the I439S mutation conferred intermediate levels of repressor activity of DAX-1 when compared with mutations associated with classic AHC. 10675358

2000
dbSNP: rs104894897
rs104894897
NR0B1
0.810 GeneticVariation UNIPROT DAX1 mutations map to putative structural domains in a deduced three-dimensional model. 9529340

1998