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:0031379 | HP:0031379 | Abnormal T cell proliferation | 0 | CARD11 CL E G H | 84433 | 16393 | OMIM:615206 | Card11 immunodeficiency | | | | 45 | | |
HP:0031379 | HP:0031379 | Abnormal T cell proliferation | 0 | CD3E CL E G H | 916 | 1674 | OMIM:615615 | Immunodeficiency 18 | | | | 24 | | |
HP:0031379 | HP:0031379 | Abnormal T cell proliferation | 0 | CTPS1 CL E G H | 1503 | 2519 | OMIM:615897 | IMMUNODEFICIENCY 24; IMD24 | | | | 2 | | |
HP:0031379 | HP:0031379 | Abnormal T cell proliferation | 0 | DOCK2 CL E G H | 1794 | 2988 | OMIM:616433 | Immunodeficiency 40 | | | | 6 | | |
HP:0031379 | HP:0031379 | Abnormal T cell proliferation | 0 | LCP2 CL E G H | 3937 | 6529 | OMIM:619374 | IMMUNODEFICIENCY 81; IMD81 | | | | | | |
HP:0031379 | HP:0031379 | Abnormal T cell proliferation | 0 | LIG1 CL E G H | 3978 | 6598 | OMIM:619774 | IMMUNODEFICIENCY 96; IMD96 | | | | 9 | | |
HP:0031379 | HP:0031379 | Abnormal T cell proliferation | 0 | MRTFA CL E G H | 57591 | 14334 | OMIM:618847 | IMMUNODEFICIENCY 66; IMD66 | | | | | | |
HP:0031379 | HP:0031379 | Abnormal T cell proliferation | 0 | NSMCE3 CL E G H | 56160 | 7677 | OMIM:617241 | LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS | | | | 2 | | |
HP:0031379 | HP:0031379 | Abnormal T cell proliferation | 0 | PGM3 CL E G H | 5238 | 8907 | ORPHA:443811 | PGM3-CDG | | | | 15 | | |
HP:0031379 | HP:0031379 | Abnormal T cell proliferation | 0 | RAG1 CL E G H | 5896 | 9831 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | | | | 127 | | |
HP:0031379 | HP:0031379 | Abnormal T cell proliferation | 0 | RAG2 CL E G H | 5897 | 9832 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | | | | 50 | | |
HP:0031379 | HP:0031379 | Abnormal T cell proliferation | 0 | RASGRP1 CL E G H | 10125 | 9878 | OMIM:618534 | IMMUNODEFICIENCY 64; IMD64 | | | | | | |
HP:0031379 | HP:0031379 | Abnormal T cell proliferation | 0 | TGFB1 CL E G H | 7040 | 11766 | OMIM:618213 | INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE | | | | 13 | | |
HP:0031379 | HP:0031379 | Abnormal T cell proliferation | 0 | WIPF1 CL E G H | 7456 | 12736 | OMIM:614493 | WISKOTT-ALDRICH SYNDROME 2; WAS2 | | | | 6 | | |
HP:0031379 | HP:0031402 | Reduced antigen-specific T cell proliferation | 1 | CARD11 CL E G H | 84433 | 16393 | OMIM:615206 | Card11 immunodeficiency | | | | 45 | | |
HP:0031379 | HP:0030253 | Defective T cell proliferation | 1 | CD3E CL E G H | 916 | 1674 | OMIM:615615 | Immunodeficiency 18 | HP:0040283 - Occasional | | | 24 | | |
HP:0031379 | HP:0030253 | Defective T cell proliferation | 1 | CTPS1 CL E G H | 1503 | 2519 | OMIM:615897 | IMMUNODEFICIENCY 24; IMD24 | | | | 2 | | |
HP:0031379 | HP:0031402 | Reduced antigen-specific T cell proliferation | 1 | CTPS1 CL E G H | 1503 | 2519 | OMIM:615897 | IMMUNODEFICIENCY 24; IMD24 | | | | 2 | | |
HP:0031379 | HP:0031402 | Reduced antigen-specific T cell proliferation | 1 | DOCK2 CL E G H | 1794 | 2988 | OMIM:616433 | Immunodeficiency 40 | | | | 6 | | |
HP:0031379 | HP:0031402 | Reduced antigen-specific T cell proliferation | 1 | LCP2 CL E G H | 3937 | 6529 | OMIM:619374 | IMMUNODEFICIENCY 81; IMD81 | | | | | | |
HP:0031379 | HP:0030253 | Defective T cell proliferation | 1 | LIG1 CL E G H | 3978 | 6598 | OMIM:619774 | IMMUNODEFICIENCY 96; IMD96 | | | | 9 | | |
HP:0031379 | HP:0030253 | Defective T cell proliferation | 1 | MRTFA CL E G H | 57591 | 14334 | OMIM:618847 | IMMUNODEFICIENCY 66; IMD66 | | | | | | |
HP:0031379 | HP:0031402 | Reduced antigen-specific T cell proliferation | 1 | NSMCE3 CL E G H | 56160 | 7677 | OMIM:617241 | LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS | | | | 2 | | |
HP:0031379 | HP:0031402 | Reduced antigen-specific T cell proliferation | 1 | PGM3 CL E G H | 5238 | 8907 | ORPHA:443811 | PGM3-CDG | HP:0040282 - Frequent | | | 15 | | |
HP:0031379 | HP:0031402 | Reduced antigen-specific T cell proliferation | 1 | RAG1 CL E G H | 5896 | 9831 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | HP:0040282 - Frequent | | | 127 | | |
HP:0031379 | HP:0031402 | Reduced antigen-specific T cell proliferation | 1 | RAG2 CL E G H | 5897 | 9832 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | HP:0040282 - Frequent | | | 50 | | |
HP:0031379 | HP:0030253 | Defective T cell proliferation | 1 | RASGRP1 CL E G H | 10125 | 9878 | OMIM:618534 | IMMUNODEFICIENCY 64; IMD64 | | | | | | |
HP:0031379 | HP:0030253 | Defective T cell proliferation | 1 | TGFB1 CL E G H | 7040 | 11766 | OMIM:618213 | INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE | | | | 13 | | |
HP:0031379 | HP:0030253 | Defective T cell proliferation | 1 | WIPF1 CL E G H | 7456 | 12736 | OMIM:614493 | WISKOTT-ALDRICH SYNDROME 2; WAS2 | | | | 6 | | |