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:0001904 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 0 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040282 - Frequent | | | 87 | | |
HP:0001904 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 0 | CASP10 CL E G H | 843 | 1500 | OMIM:603909 | Autoimmune lymphoproliferative syndrome, type IIA | . | | | 87 | | |
HP:0001904 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 0 | CIITA CL E G H | 4261 | 7067 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | HP:0040283 - Occasional | | | 118 | | |
HP:0001904 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 0 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040282 - Frequent | | | 59 | | |
HP:0001904 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 0 | FAS CL E G H | 355 | 11920 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | . | | | 59 | | |
HP:0001904 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 0 | FASLG CL E G H | 356 | 11936 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | . | | | 37 | | |
HP:0001904 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 0 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040282 - Frequent | | | 37 | | |
HP:0001904 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 0 | FCGR3B CL E G H | 2215 | 3620 | ORPHA:464370 | Neonatal alloimmune neutropenia | HP:0040281 - Very frequent | | | 5 | | |
HP:0001904 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 0 | FOXP3 CL E G H | 50943 | 6106 | ORPHA:37042 | Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome | HP:0040283 - Occasional | | | 32 | | |
HP:0001904 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 0 | ICOS CL E G H | 29851 | 5351 | OMIM:607594 | Immunodeficiency, common variable, 1 | HP:0040283 - Occasional | | | 32 | | |
HP:0001904 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 0 | ITCH CL E G H | 83737 | 13890 | ORPHA:228426 | Syndromic multisystem autoimmune disease due to Itch deficiency | HP:0040283 - Occasional | | | 3 | | |
HP:0001904 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 0 | PGM3 CL E G H | 5238 | 8907 | ORPHA:443811 | PGM3-CDG | HP:0040283 - Occasional | | | 15 | | |
HP:0001904 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 0 | PIK3CG CL E G H | 5294 | 8978 | OMIM:619802 | IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97 | | | | 2 | | |
HP:0001904 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 0 | PNP CL E G H | 4860 | 7892 | OMIM:613179 | Immunodeficiency due to purine nucleoside phosphorylase deficiency | . | | | 52 | | |
HP:0001904 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 0 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040282 - Frequent | | | 10 | | |
HP:0001904 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 0 | RAG1 CL E G H | 5896 | 9831 | ORPHA:231154 | Combined immunodeficiency due to partial RAG1 deficiency | HP:0040282 - Frequent | | | 127 | | |
HP:0001904 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 0 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040282 - Frequent | | | | | |
HP:0001904 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 0 | RFX5 CL E G H | 5993 | 9986 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | HP:0040283 - Occasional | | | 38 | | |
HP:0001904 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 0 | RFXANK CL E G H | 8625 | 9987 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | HP:0040283 - Occasional | | | 26 | | |
HP:0001904 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 0 | RFXAP CL E G H | 5994 | 9988 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | HP:0040283 - Occasional | | | 34 | | |
HP:0001904 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 0 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0001904 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 0 | STAT1 CL E G H | 6772 | 11362 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | HP:0040283 - Occasional | | | 89 | | |
HP:0001904 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 0 | STAT3 CL E G H | 6774 | 11364 | OMIM:615952 | AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1 | | | | 110 | | |
HP:0001904 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 0 | TOM1 CL E G H | 10043 | 11982 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | HP:0040283 - Occasional | | | | | |
HP:0001904 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 0 | TPP2 CL E G H | 7174 | 12016 | OMIM:619220 | IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78 | | | | | | |