Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0005479 | HP:0005479 | Decreased circulating IgE | 0 | BACH2 CL E G H | 60468 | 14078 | OMIM:618394 | IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60 | | | | | | |
HP:0005479 | HP:0005479 | Decreased circulating IgE | 0 | BTK CL E G H | 695 | 1133 | OMIM:300755 | Agammaglobulinemia, X-linked | | | | 109 | | |
HP:0005479 | HP:0005479 | Decreased circulating IgE | 0 | CD40 CL E G H | 958 | 11919 | OMIM:606843 | Immunodeficiency with hyper-igm, type 3 | . | | | 27 | | |
HP:0005479 | HP:0005479 | Decreased circulating IgE | 0 | CD40LG CL E G H | 959 | 11935 | OMIM:308230 | Immunodeficiency, X-linked, with hyper-IgM | . | | | 33 | | |
HP:0005479 | HP:0005479 | Decreased circulating IgE | 0 | IL2RG CL E G H | 3561 | 6010 | OMIM:300400 | Severe combined immunodeficiency, X-linked | | | | 48 | | |
HP:0005479 | HP:0005479 | Decreased circulating IgE | 0 | TCF3 CL E G H | 6929 | 11633 | OMIM:619824 | AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B | | | | 2 | | |
HP:0005479 | HP:0005479 | Decreased circulating IgE | 0 | TOM1 CL E G H | 10043 | 11982 | OMIM:619510 | IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85 | | | | | | |
HP:0005479 | HP:0033021 | Transient decreased circulating IgE | 1 | CL E G H | | | | | | | | | | |
HP:0005479 | HP:0033023 | Chronic absent circulating IgE | 1 | CL E G H | | | | | | | | | | |
HP:0005479 | HP:0033022 | Chronic decreased circulating IgE | 1 | CL E G H | | | | | | | | | | |