Gene: NR0B1 ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894897
rs104894897
NR0B1
0.810 GeneticVariation UNIPROT Inappropriate tall stature and renal ectopy in a male patient with X-linked congenital adrenal hypoplasia due to a novel missense mutation in the DAX-1 gene. 15800903

2005
dbSNP: rs28935481
rs28935481
NR0B1
0.810 GeneticVariation UNIPROT Inappropriate tall stature and renal ectopy in a male patient with X-linked congenital adrenal hypoplasia due to a novel missense mutation in the DAX-1 gene. 15800903

2005
dbSNP: rs104894897
rs104894897
NR0B1
0.810 GeneticVariation UNIPROT Identification of a novel missense mutation that is as damaging to DAX-1 repressor function as a nonsense mutation. 12629128

2003
dbSNP: rs28935481
rs28935481
NR0B1
0.810 GeneticVariation UNIPROT Identification of a novel missense mutation that is as damaging to DAX-1 repressor function as a nonsense mutation. 12629128

2003
dbSNP: rs104894897
rs104894897
NR0B1
0.810 GeneticVariation UNIPROT Hypogonadotropic hypogonadism as a presenting feature of late-onset X-linked adrenal hypoplasia congenita. 11788621

2002
dbSNP: rs28935481
rs28935481
NR0B1
0.810 GeneticVariation UNIPROT Hypogonadotropic hypogonadism as a presenting feature of late-onset X-linked adrenal hypoplasia congenita. 11788621

2002
dbSNP: rs104894897
rs104894897
NR0B1
0.810 GeneticVariation UNIPROT Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenita. 11748852

2001
dbSNP: rs104894897
rs104894897
NR0B1
0.810 GeneticVariation UNIPROT Missense mutations cluster within the carboxyl-terminal region of DAX-1 and impair transcriptional repression. 11443184

2001
dbSNP: rs28935481
rs28935481
NR0B1
0.810 GeneticVariation UNIPROT Missense mutations cluster within the carboxyl-terminal region of DAX-1 and impair transcriptional repression. 11443184

2001
dbSNP: rs28935481
rs28935481
NR0B1
0.810 GeneticVariation UNIPROT Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenita. 11748852

2001
dbSNP: rs104894897
rs104894897
NR0B1
0.810 GeneticVariation UNIPROT Presymptomatic diagnosis of X-linked adrenal hypoplasia congenita by analysis of DAX1. 11113848

2000
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 Orphan receptor DAX-1 is a shuttling RNA binding protein associated with polyribosomes via mRNA. 10848616

2000
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: rs28935481
rs28935481
NR0B1
0.810 GeneticVariation UNIPROT Presymptomatic diagnosis of X-linked adrenal hypoplasia congenita by analysis of DAX1. 11113848

2000
dbSNP: rs28935481
rs28935481
NR0B1
0.810 GeneticVariation UNIPROT Orphan receptor DAX-1 is a shuttling RNA binding protein associated with polyribosomes via mRNA. 10848616

2000
dbSNP: rs104894897
rs104894897
NR0B1
0.810 GeneticVariation UNIPROT Novel missense mutation (Leu466Arg) of the DAX1 gene in a patient with X-linked congenital adrenal hypoplasia. 10323730

1999
dbSNP: rs104894897
rs104894897
NR0B1
0.810 GeneticVariation UNIPROT Novel DAX1 mutations in X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism. 10341858

1999
dbSNP: rs28935481
rs28935481
NR0B1
0.810 GeneticVariation UNIPROT Novel DAX1 mutations in X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism. 10341858

1999
dbSNP: rs28935481
rs28935481
NR0B1
0.810 GeneticVariation UNIPROT Novel missense mutation (Leu466Arg) of the DAX1 gene in a patient with X-linked congenital adrenal hypoplasia. 10323730

1999
dbSNP: rs104894897
rs104894897
NR0B1
0.810 GeneticVariation UNIPROT DAX1 mutations map to putative structural domains in a deduced three-dimensional model. 9529340

1998
dbSNP: rs28935481
rs28935481
NR0B1
0.810 GeneticVariation UNIPROT DAX1 mutations map to putative structural domains in a deduced three-dimensional model. 9529340

1998
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: rs104894897
rs104894897
NR0B1
0.810 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 Three novel mutations and a de novo deletion mutation of the DAX-1 gene in patients with X-linked adrenal hypoplasia congenita. 9360549

1997