eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| antley bixler syndrome | ||||
| Disease ID | 1985 |
|---|---|
| Disease | antley bixler syndrome |
| Definition | Antley-Bixler Syndrome phenotype with normal genitalia and normal steroidogenesis, and associated with autosomal dominant mutations in FGFR2, the gene for FIBROBLAST GROWTH FACTOR RECEPTOR 2. |
| Synonym | abs2 antley bixler syndrome, autosomal dominant antley-bixler syndrome antley-bixler syndrome (disorder) antley-bixler syndrome without genital anomalies or disordered steroidogenesis antley-bixler syndrome, autosomal dominant antley-bixter syndrome multisynostotic osteodysgenesis multisynostotic osteodysgenesis with long bone fractures osteodysgenesis, multisynostotic osteodysgenesis, multisynostotic, with fractures syndrome, antley-bixler syndrome, trapezoidocephaly-synostosis syndromes, trapezoidocephaly-synostosis trapezoidcephaly-multiple synostosis trapezoidocephaly synostosis syndrome trapezoidocephaly-synostosis syndrome trapezoidocephaly-synostosis syndromes |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C2936791 |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:3) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:19) 415 | ARSE | 1.986 | DISEASES 1528 | CYB5A | 3.626 | DISEASES 1586 | CYP17A1 | 4.723 | DISEASES 1544 | CYP1A2 | 1.225 | DISEASES 1589 | CYP21A2 | 4.719 | DISEASES 1555 | CYP2B6 | 1.679 | DISEASES 1576 | CYP3A4 | 1.827 | DISEASES 1718 | DHCR24 | 4.698 | DISEASES 1717 | DHCR7 | 2.743 | DISEASES 50506 | DUOX2 | 1.637 | DISEASES 10682 | EBP | 4.296 | DISEASES 2232 | FDXR | 2.721 | DISEASES 2260 | FGFR1 | 2.521 | DISEASES 2263 | FGFR2 | 5.364 | DISEASES 2261 | FGFR3 | 2.411 | DISEASES 4519 | MT-CYB | 1.525 | DISEASES 50814 | NSDHL | 3.417 | DISEASES 5447 | POR | 4.751 | DISEASES 117581 | TWIST2 | 2.339 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1985 |
|---|---|
| Disease | antley bixler syndrome |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 1985 |
|---|---|
| Disease | antley bixler syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:3) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121918488 | NA | 2263 | FGFR2 | umls:C2936791 | CLINVAR | NA | 0.361900093 | NA | FGFR2 | 10 | 121517379 | A | T,G |
| rs121918502 | NA | 2263 | FGFR2 | umls:C2936791 | CLINVAR | NA | 0.361900093 | NA | FGFR2 | 10 | 121517351 | G | C |
| rs28931606 | 16998238 | 5447 | POR | umls:C2936791 | BeFree | Based on these findings, decreased FAD-binding affinity is proposed as the basis of the observed loss of CYPOR function in the Y459H and V492E POR mutations in ABS. | 0.001085767 | 2006 | POR | 7 | 75985655 | T | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 1985 |
|---|---|
| Disease | antley bixler syndrome |
| Case | (Waiting for update.) |