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:0500033 | HP:0500033 | Abnormal natural killer subset distribution | 0 | GINS1 CL E G H | 9837 | 28980 | OMIM:617827 | Immunodeficiency 55 | | | | | | |
HP:0500033 | HP:0500033 | Abnormal natural killer subset distribution | 0 | JAK3 CL E G H | 3718 | 6193 | OMIM:600802 | Scid, autosomal recessive, T-Negative/b-Positive type | | | | 140 | | |
HP:0500033 | HP:0500033 | Abnormal natural killer subset distribution | 0 | JAK3 CL E G H | 3718 | 6193 | ORPHA:35078 | T-B+ severe combined immunodeficiency due to JAK3 deficiency | | | | 140 | | |
HP:0500033 | HP:0031410 | Abnormal distribution of CD56 bright/dim natural killer cells | 1 | CL E G H | | | | | | | | | | |
HP:0500033 | HP:0040219 | Absent natural killer cells | 1 | GINS1 CL E G H | 9837 | 28980 | OMIM:617827 | Immunodeficiency 55 | | | | | | |
HP:0500033 | HP:0040219 | Absent natural killer cells | 1 | JAK3 CL E G H | 3718 | 6193 | OMIM:600802 | Scid, autosomal recessive, T-Negative/b-Positive type | | | | 140 | | |
HP:0500033 | HP:0040219 | Absent natural killer cells | 1 | JAK3 CL E G H | 3718 | 6193 | ORPHA:35078 | T-B+ severe combined immunodeficiency due to JAK3 deficiency | HP:0040282 - Frequent | | | 140 | | |