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:0008348 | HP:0008348 | Decreased circulating IgG2 level | 0 | ADA CL E G H | 100 | 186 | OMIM:102700 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | . | | | 75 | | |
HP:0008348 | HP:0008348 | Decreased circulating IgG2 level | 0 | ATM CL E G H | 472 | 795 | OMIM:208900 | ATAXIA-TELANGIECTASIA | . | | | 3267 | | |
HP:0008348 | HP:0008348 | Decreased circulating IgG2 level | 0 | CD247 CL E G H | 919 | 1677 | OMIM:610163 | IMMUNODEFICIENCY 25; IMD25 | | | | 8 | | |
HP:0008348 | HP:0008348 | Decreased circulating IgG2 level | 0 | CD3G CL E G H | 917 | 1675 | OMIM:615607 | Immunodeficiency 17 | | | | 19 | | |
HP:0008348 | HP:0008348 | Decreased circulating IgG2 level | 0 | CTPS1 CL E G H | 1503 | 2519 | OMIM:615897 | IMMUNODEFICIENCY 24; IMD24 | | | | 2 | | |
HP:0008348 | HP:0008348 | Decreased circulating IgG2 level | 0 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | . | | | 40 | | |
HP:0008348 | HP:0008348 | Decreased circulating IgG2 level | 0 | EPG5 CL E G H | 57724 | 29331 | ORPHA:1493 | Vici syndrome | HP:0040283 - Occasional | | | 40 | | |
HP:0008348 | HP:0008348 | Decreased circulating IgG2 level | 0 | PIK3CD CL E G H | 5293 | 8977 | OMIM:615513 | IMMUNODEFICIENCY 14; IMD14 | | | | 9 | | |
HP:0008348 | HP:0041062 | Transient decreased circulating IgG2 | 1 | CL E G H | | | | | | | | | | |
HP:0008348 | HP:0041063 | Chronic decreased cirulating IgG2 | 1 | CD3G CL E G H | 917 | 1675 | OMIM:615607 | Immunodeficiency 17 | | | | 19 | | |
HP:0008348 | HP:0041066 | Chronic partially decreased circulating IgG2 | 2 | CL E G H | | | | | | | | | | |
HP:0008348 | HP:0041065 | Chronic (near) absent circulating IgG2 | 2 | CL E G H | | | | | | | | | | |