Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0045080 | HP:0045080 | Decreased proportion of CD3-positive T cells | 0 | CD247 CL E G H | 919 | 1677 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | HP:0040282 - Frequent | | | 8 | | |
HP:0045080 | HP:0045080 | Decreased proportion of CD3-positive T cells | 0 | CD3D CL E G H | 915 | 1673 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | HP:0040282 - Frequent | | | 18 | | |
HP:0045080 | HP:0045080 | Decreased proportion of CD3-positive T cells | 0 | CD3E CL E G H | 916 | 1674 | OMIM:615615 | Immunodeficiency 18 | | | | 24 | | |
HP:0045080 | HP:0045080 | Decreased proportion of CD3-positive T cells | 0 | CD3E CL E G H | 916 | 1674 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | HP:0040282 - Frequent | | | 24 | | |
HP:0045080 | HP:0045080 | Decreased proportion of CD3-positive T cells | 0 | DCLRE1C CL E G H | 64421 | 17642 | ORPHA:275 | Severe combined immunodeficiency due to DCLRE1C deficiency | HP:0040283 - Occasional | | | 94 | | |
HP:0045080 | HP:0045080 | Decreased proportion of CD3-positive T cells | 0 | IL2RG CL E G H | 3561 | 6010 | ORPHA:276 | T-B+ severe combined immunodeficiency due to gamma chain deficiency | HP:0040282 - Frequent | | | 48 | | |
HP:0045080 | HP:0045080 | Decreased proportion of CD3-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:0045080 | HP:0045080 | Decreased proportion of CD3-positive T cells | 0 | PGM3 CL E G H | 5238 | 8907 | ORPHA:443811 | PGM3-CDG | HP:0040282 - Frequent | | | 15 | | |
HP:0045080 | HP:0045080 | Decreased proportion of CD3-positive T cells | 0 | PNP CL E G H | 4860 | 7892 | ORPHA:760 | Purine nucleoside phosphorylase deficiency | HP:0040283 - Occasional | | | 52 | | |
HP:0045080 | HP:0045080 | Decreased proportion of CD3-positive T cells | 0 | RAG1 CL E G H | 5896 | 9831 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | HP:0040282 - Frequent | | | 127 | | |
HP:0045080 | HP:0045080 | Decreased proportion of CD3-positive T cells | 0 | RAG2 CL E G H | 5897 | 9832 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | HP:0040282 - Frequent | | | 50 | | |