eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| immunoglobulin a deficiency | ||||
| Disease ID | 1106 |
|---|---|
| Disease | immunoglobulin a deficiency |
| Definition | A dysgammaglobulinemia characterized by a deficiency of IMMUNOGLOBULIN A. |
| Synonym | decreased iga decreased immunoglobulin a defic iga deficiencies immunoglobulin deficiencies, iga deficiency, iga gamma-a globulin deficiency iga defic iga deficiencies iga deficiency iga deficiency [disease/finding] iga deficiency, isolated immunoglobulin a deficiency (disorder) low levels of immunoglobulin a reduced iga levels |
| DOID | |
| UMLS | C0162538 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:20) C0024141 | systemic lupus erythematosus | 3 C0021053 | immune disorder | 3 C0007570 | celiac disease | 3 C0021053 | immune disorders | 3 C0021053 | immune disease | 2 C0409974 | lupus erythematosus | 2 C0003864 | arthritis | 1 C0004096 | asthma | 1 C0027697 | nephritis | 1 C0034152 | henoch-schonlein purpura | 1 C0175691 | dubowitz syndrome | 1 C0026780 | parotitis | 1 C0011854 | type 1 diabetes | 1 C0003873 | rheumatoid arthritis | 1 C0553662 | juvenile rheumatoid arthritis | 1 C0026896 | myasthenia gravis | 1 C0017665 | membranous glomerulopathy | 1 C0034150 | purpura | 1 C0011847 | diabetes | 1 C0039103 | synovitis | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:3) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:14) 3105 | HLA-A | CIPHER 3106 | HLA-B | CIPHER 3117 | HLA-DQA1 | CIPHER 3123 | HLA-DRB1 | CIPHER 3493 | IGHA1 | CIPHER 3586 | IL10 | CIPHER 3569 | IL6 | CIPHER 4439 | MSH5 | CIPHER 639 | PRDM1 | CIPHER 23495 | TNFRSF13B | CIPHER 7494 | XBP1 | CIPHER 26191 | PTPN22 | CIPHER 23274 | CLEC16A | CTD_human 64135 | IFIH1 | CTD_human |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1106 |
|---|---|
| Disease | immunoglobulin a deficiency |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:17) HP:0002960 | Autoimmune condition | 10 HP:0002608 | Celiac disease | 4 HP:0002725 | Systemic lupus erythematosus | 3 HP:0011947 | Respiratory infection | 2 HP:0000979 | Purpura | 1 HP:0002205 | Frequent respiratory infections | 1 HP:0100820 | Glomerulopathy | 1 HP:0002788 | Recurrent upper respiratory infection | 1 HP:0100769 | Synovitis | 1 HP:0005681 | Juvenile idiopathic arthritis | 1 HP:0002242 | Enteropathy | 1 HP:0002099 | Asthma | 1 HP:0002719 | infections, recurrent | 1 HP:0000123 | Nephritis | 1 HP:0011850 | Parotitis | 1 HP:0001370 | Rheumatoid arthritis | 1 HP:0003473 | Fatigable weakness | 1 |
| Disease ID | 1106 |
|---|---|
| Disease | immunoglobulin a deficiency |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:2) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:0) | |
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| (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) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
| Disease ID | 1106 |
|---|---|
| Disease | immunoglobulin a deficiency |
| Case | (Waiting for update.) |