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 Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. 7990958

1994
dbSNP: rs28935481
rs28935481
NR0B1
0.810 GeneticVariation UNIPROT Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. 7990958

1994
dbSNP: rs104894888
rs104894888
NR0B1
0.800 GeneticVariation UNIPROT Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. 7990958

1994
dbSNP: rs104894896
rs104894896
NR0B1
0.800 GeneticVariation UNIPROT Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. 7990958

1994
dbSNP: rs104894899
rs104894899
NR0B1
0.800 GeneticVariation UNIPROT Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. 7990958

1994
dbSNP: rs104894900
rs104894900
NR0B1
0.800 GeneticVariation UNIPROT Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. 7990958

1994
dbSNP: rs104894907
rs104894907
NR0B1
0.800 GeneticVariation UNIPROT Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. 7990958

1994
dbSNP: rs28935482
rs28935482
NR0B1
0.800 GeneticVariation UNIPROT Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. 7990958

1994
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
dbSNP: rs104894897
rs104894897
NR0B1
0.810 GeneticVariation UNIPROT X-linked adrenal hypoplasia in a large Greenlandic family. Detection of a missense mutation (N4401) in the DAX-1 gene; implication for genetic counselling and carrier diagnosis. 9003500

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: rs28935481
rs28935481
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 Three novel mutations and a de novo deletion mutation of the DAX-1 gene in patients with X-linked adrenal hypoplasia congenita. 9360549

1997
dbSNP: rs28935481
rs28935481
NR0B1
0.810 GeneticVariation UNIPROT We have identified a missense mutation (N440I) in three patients with AHC and HHG, all belonging to a large Greenlandic family. 9003500

1997
dbSNP: rs104894888
rs104894888
NR0B1
0.800 GeneticVariation UNIPROT X-linked adrenal hypoplasia in a large Greenlandic family. Detection of a missense mutation (N4401) in the DAX-1 gene; implication for genetic counselling and carrier diagnosis. 9003500

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: rs104894888
rs104894888
NR0B1
0.800 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
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 Three novel mutations and a de novo deletion mutation of the DAX-1 gene in patients with X-linked adrenal hypoplasia congenita. 9360549

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: rs104894896
rs104894896
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 X-linked adrenal hypoplasia in a large Greenlandic family. Detection of a missense mutation (N4401) in the DAX-1 gene; implication for genetic counselling and carrier diagnosis. 9003500

1997
dbSNP: rs104894899
rs104894899
NR0B1
0.800 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