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:0005415 | HP:0005415 | Decreased proportion of CD8-positive T cells | 0 | CD3G CL E G H | 917 | 1675 | OMIM:615607 | Immunodeficiency 17 | . | | | 19 | | |
HP:0005415 | HP:0005415 | Decreased proportion of CD8-positive T cells | 0 | CD8A CL E G H | 925 | 1706 | OMIM:608957 | Cd8 deficiency, familial | | | | 4 | | |
HP:0005415 | HP:0005415 | Decreased proportion of CD8-positive T cells | 0 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0005415 | HP:0005415 | Decreased proportion of CD8-positive T cells | 0 | IKBKB CL E G H | 3551 | 5960 | OMIM:618204 | IMMUNODEFICIENCY 15A; IMD15A | | | | 4 | | |
HP:0005415 | HP:0005415 | Decreased proportion of CD8-positive T cells | 0 | IL2RG CL E G H | 3561 | 6010 | OMIM:312863 | Combined immunodeficiency, X-linked | . | | | 48 | | |
HP:0005415 | HP:0005415 | Decreased proportion of CD8-positive T cells | 0 | IL7R CL E G H | 3575 | 6024 | ORPHA:169154 | T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency | HP:0040282 - Frequent | | | 94 | | |
HP:0005415 | HP:0005415 | Decreased proportion of CD8-positive T cells | 0 | NSMCE3 CL E G H | 56160 | 7677 | OMIM:617241 | LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS | | | | 2 | | |
HP:0005415 | HP:0005415 | Decreased proportion of CD8-positive T cells | 0 | PIK3CG CL E G H | 5294 | 8978 | OMIM:619802 | IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97 | | | | 2 | | |
HP:0005415 | HP:0005415 | Decreased proportion of CD8-positive T cells | 0 | WAS CL E G H | 7454 | 12731 | OMIM:301000 | Wiskott-Aldrich syndrome | | | | 65 | | |
HP:0005415 | HP:0005415 | Decreased proportion of CD8-positive T cells | 0 | WIPF1 CL E G H | 7456 | 12736 | OMIM:614493 | WISKOTT-ALDRICH SYNDROME 2; WAS2 | | | | 6 | | |
HP:0005415 | HP:0005415 | Decreased proportion of CD8-positive T cells | 0 | ZAP70 CL E G H | 7535 | 12858 | ORPHA:911 | Combined immunodeficiency due to ZAP70 deficiency | HP:0040282 - Frequent | | | 46 | | |
HP:0005415 | HP:0005415 | Decreased proportion of CD8-positive T cells | 0 | ZAP70 CL E G H | 7535 | 12858 | OMIM:269840 | SELECTIVE T-CELL DEFECT | | | | 46 | | |
HP:0005415 | HP:0005422 | Absence of CD8-positive T cells | 1 | CD8A CL E G H | 925 | 1706 | OMIM:608957 | Cd8 deficiency, familial | . | | | 4 | | |
HP:0005415 | HP:0005422 | Absence of CD8-positive T cells | 1 | ZAP70 CL E G H | 7535 | 12858 | ORPHA:911 | Combined immunodeficiency due to ZAP70 deficiency | HP:0040282 - Frequent | | | 46 | | |
HP:0005415 | HP:0005422 | Absence of CD8-positive T cells | 1 | ZAP70 CL E G H | 7535 | 12858 | OMIM:269840 | SELECTIVE T-CELL DEFECT | | | | 46 | | |