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:0012178 | HP:0012178 | Reduced natural killer cell activity | 0 | AP3B1 CL E G H | 8546 | 566 | OMIM:608233 | Hermansky-Pudlak syndrome 2 | | | | 83 | | |
HP:0012178 | HP:0012178 | Reduced natural killer cell activity | 0 | FCGR3A CL E G H | 2214 | 3619 | OMIM:615707 | Immunodeficiency 20 | | | | 4 | | |
HP:0012178 | HP:0012178 | Reduced natural killer cell activity | 0 | IKBKG CL E G H | 8517 | 5961 | OMIM:300291 | ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1; EDAID1 | | | | 52 | | |
HP:0012178 | HP:0012178 | Reduced natural killer cell activity | 0 | IL2RG CL E G H | 3561 | 6010 | OMIM:300400 | Severe combined immunodeficiency, X-linked | | | | 48 | | |
HP:0012178 | HP:0012178 | Reduced natural killer cell activity | 0 | LCP2 CL E G H | 3937 | 6529 | OMIM:619374 | IMMUNODEFICIENCY 81; IMD81 | | | | | | |
HP:0012178 | HP:0012178 | Reduced natural killer cell activity | 0 | NLRC4 CL E G H | 58484 | 16412 | OMIM:616050 | AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC | | | | 30 | | |
HP:0012178 | HP:0012178 | Reduced natural killer cell activity | 0 | PIK3CD CL E G H | 5293 | 8977 | OMIM:619281 | IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B | | | | 9 | | |
HP:0012178 | HP:0012178 | Reduced natural killer cell activity | 0 | PRF1 CL E G H | 5551 | 9360 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040282 - Frequent | | | 58 | | |
HP:0012178 | HP:0012178 | Reduced natural killer cell activity | 0 | PRF1 CL E G H | 5551 | 9360 | OMIM:603553 | Hemophagocytic lymphohistiocytosis, familial, 2 | | | | 58 | | |
HP:0012178 | HP:0012178 | Reduced natural killer cell activity | 0 | PRKCD CL E G H | 5580 | 9399 | OMIM:615559 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3 | | | | 10 | | |
HP:0012178 | HP:0012178 | Reduced natural killer cell activity | 0 | SH2D1A CL E G H | 4068 | 10820 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | . | | | 37 | | |
HP:0012178 | HP:0012178 | Reduced natural killer cell activity | 0 | STX11 CL E G H | 8676 | 11429 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040282 - Frequent | | | 85 | | |
HP:0012178 | HP:0012178 | Reduced natural killer cell activity | 0 | STXBP2 CL E G H | 6813 | 11445 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040282 - Frequent | | | 70 | | |
HP:0012178 | HP:0012178 | Reduced natural killer cell activity | 0 | UNC13D CL E G H | 201294 | 23147 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040282 - Frequent | | | 116 | | |
HP:0012178 | HP:0012178 | Reduced natural killer cell activity | 0 | UNC13D CL E G H | 201294 | 23147 | OMIM:608898 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3 | | | | 116 | | |
HP:0012178 | HP:0012178 | Reduced natural killer cell activity | 0 | WAS CL E G H | 7454 | 12731 | OMIM:301000 | Wiskott-Aldrich syndrome | | | | 65 | | |
HP:0012178 | HP:0012178 | Reduced natural killer cell activity | 0 | WIPF1 CL E G H | 7456 | 12736 | OMIM:614493 | WISKOTT-ALDRICH SYNDROME 2; WAS2 | | | | 6 | | |
HP:0012178 | HP:0012178 | Reduced natural killer cell activity | 0 | XIAP CL E G H | 331 | 592 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | . | | | 81 | | |