|
| Entrez Id: |
5447 |
| Gene Symbol: |
POR |
POR
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients.
|
15483095 |
2005 |
|
| Entrez Id: |
5447 |
| Gene Symbol: |
POR |
POR
|
0.350 |
Biomarker
|
disease |
CTD_human |
Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study.
|
15220035 |
2004 |
|
| Entrez Id: |
5447 |
| Gene Symbol: |
POR |
POR
|
0.350 |
Biomarker
|
disease |
CTD_human |
Mutations of POR also affect drug-metabolizing P450 enzymes, explaining the association of ABS with maternal fluconazole ingestion.
|
14758361 |
2004 |
|
| Entrez Id: |
1555 |
| Gene Symbol: |
CYP2B6 |
CYP2B6
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome.
|
14758361 |
2004 |
|
| Entrez Id: |
2263 |
| Gene Symbol: |
FGFR2 |
FGFR2
|
0.740 |
GeneticVariation
|
disease |
UNIPROT |
Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?
|
10633130 |
2000 |
|
| Entrez Id: |
2263 |
| Gene Symbol: |
FGFR2 |
FGFR2
|
0.740 |
GermlineCausalMutation
|
disease |
ORPHANET |
Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?
|
10633130 |
2000 |
|
| Entrez Id: |
2263 |
| Gene Symbol: |
FGFR2 |
FGFR2
|
0.740 |
Biomarker
|
disease |
CTD_human |
We report the first case of ABS associated with an apparent dominant de novo mutation in the fibroblast growth factor receptor 2 (FGFR2) gene.
|
9605588 |
1998 |
|
| Entrez Id: |
2263 |
| Gene Symbol: |
FGFR2 |
FGFR2
|
0.740 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
We report the first case of ABS associated with an apparent dominant de novo mutation in the fibroblast growth factor receptor 2 (FGFR2) gene.
|
9605588 |
1998 |
|
| Entrez Id: |
2263 |
| Gene Symbol: |
FGFR2 |
FGFR2
|
0.740 |
GermlineCausalMutation
|
disease |
ORPHANET |
We report the first case of ABS associated with an apparent dominant de novo mutation in the fibroblast growth factor receptor 2 (FGFR2) gene.
|
9605588 |
1998 |
|
| Entrez Id: |
2263 |
| Gene Symbol: |
FGFR2 |
FGFR2
|
0.740 |
GeneticVariation
|
disease |
BEFREE |
FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome.
|
9605588 |
1998 |
|
| Entrez Id: |
2263 |
| Gene Symbol: |
FGFR2 |
FGFR2
|
0.740 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome.
|
8696350 |
1996 |
|
| Entrez Id: |
2263 |
| Gene Symbol: |
FGFR2 |
FGFR2
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
2263 |
| Gene Symbol: |
FGFR2 |
FGFR2
|
0.740 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|