PedAM
Pediatric Disease Annotations & Medicines
| hyper-ige recurrent infection syndrome | ||||
| Disease ID | 1644 |
|---|---|
| Disease | hyper-ige recurrent infection syndrome |
| Definition | A condition of decreased or absent presence or activity of signal transducer and activator of transcription 3 protein. Deficiency of this protein is associated with hyper-IgE syndrome. |
| Synonym | autosomal dominant hies autosomal dominant hiess autosomal dominant hyper-ige syndrome hies, autosomal dominant hiess, autosomal dominant hyper ige syndrome, autosomal dominant hyper immunoglobulin e syndrome, autosomal dominant hyper-ige syndrome, autosomal dominant hyper-immunoglobulin e syndrome, autosomal dominant job syndrome job's syndrome stat3 deficiency |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C2936739 |
| MeSH | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:30) 55808 | ST6GALNAC1 | DISEASES 158 | ADSL | DISEASES 3458 | IFNG | DISEASES 5184 | PEPD | DISEASES 3569 | IL6 | DISEASES 671 | BPI | DISEASES 6774 | STAT3 | DISEASES 7297 | TYK2 | DISEASES 2206 | MS4A2 | DISEASES 64581 | CLEC7A | DISEASES 1673 | DEFB4A | DISEASES 7189 | TRAF6 | DISEASES 3716 | JAK1 | DISEASES 3605 | IL17A | DISEASES 7048 | TGFBR2 | DISEASES 7096 | TLR1 | DISEASES 64170 | CARD9 | DISEASES 6789 | STK4 | DISEASES 7046 | TGFBR1 | DISEASES 3274 | HRH2 | DISEASES 28984 | RGCC | DISEASES 10333 | TLR6 | DISEASES 93978 | CLEC6A | DISEASES 51135 | IRAK4 | DISEASES 3718 | JAK3 | DISEASES 4615 | MYD88 | DISEASES 3594 | IL12RB1 | DISEASES 81704 | DOCK8 | DISEASES 3586 | IL10 | DISEASES 100289462 | DEFB4B | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1644 |
|---|---|
| Disease | hyper-ige recurrent infection syndrome |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1644 |
|---|---|
| Disease | hyper-ige recurrent infection syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
All Snps(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
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.) |
Chemical(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |
FDA approved drug and dosage information(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |