| Entry |
|
|---|
| Name |
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| Type |
Loss of function
|
|---|
| Gene |
NR3C1 glucocorticoid receptor isoform alpha [KO: K05771]
|
|---|
| Organism |
hsa_var Human gene variants (Homo sapiens)
|
|---|
| Variation |
|
|---|
| Network |
nt06310 CRH-ACTH-cortisol signaling |
|---|
| Disease |
| H01702 | Glucocorticoid resistance syndrome |
|
|---|
| Reference |
|
|---|
| Authors |
Nicolaides N, Lamprokostopoulou A, Sertedaki A, Charmandari E |
|---|
| Title |
Recent advances in the molecular mechanisms causing primary generalized glucocorticoid resistance. |
|---|
| Journal |
|
|---|
| Reference |
|
|---|
| Authors |
Vitellius G, Trabado S, Bouligand J, Delemer B, Lombes M |
|---|
| Title |
Pathophysiology of Glucocorticoid Signaling. |
|---|
| Journal |
|
|---|
| Reference |
|
|---|
| Authors |
Kino T |
|---|
| Title |
Single Nucleotide Variations of the Human GR Gene Manifested as Pathologic Mutations or Polymorphisms. |
|---|
| Journal |
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|---|
| LinkDB |
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