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:0100827 | HP:0100827 | Lymphocytosis | 0 | ARPC1B CL E G H | 10095 | 704 | OMIM:617718 | Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease | . | | | | | |
HP:0100827 | HP:0100827 | Lymphocytosis | 0 | BTNL2 CL E G H | 56244 | 1142 | ORPHA:797 | Sarcoidosis | | | | 1 | | |
HP:0100827 | HP:0100827 | Lymphocytosis | 0 | CARD11 CL E G H | 84433 | 16393 | OMIM:616452 | B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA | | | | 45 | | |
HP:0100827 | HP:0100827 | Lymphocytosis | 0 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | 87 | | |
HP:0100827 | HP:0100827 | Lymphocytosis | 0 | CASP10 CL E G H | 843 | 1500 | OMIM:603909 | Autoimmune lymphoproliferative syndrome, type IIA | | | | 87 | | |
HP:0100827 | HP:0100827 | Lymphocytosis | 0 | EIF2AK3 CL E G H | 9451 | 3255 | ORPHA:1667 | Wolcott-Rallison syndrome | HP:0040283 - Occasional | | | 65 | | |
HP:0100827 | HP:0100827 | Lymphocytosis | 0 | ELF4 CL E G H | 2000 | 3319 | OMIM:301074 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2 | | | | 1 | | |
HP:0100827 | HP:0100827 | Lymphocytosis | 0 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | 59 | | |
HP:0100827 | HP:0100827 | Lymphocytosis | 0 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0100827 | HP:0100827 | Lymphocytosis | 0 | FOCAD CL E G H | 54914 | 23377 | OMIM:619991 | | | | | 3 | | |
HP:0100827 | HP:0100827 | Lymphocytosis | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:797 | Sarcoidosis | | | | 2 | | |
HP:0100827 | HP:0100827 | Lymphocytosis | 0 | IL7R CL E G H | 3575 | 6024 | ORPHA:169154 | T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency | HP:0040283 - Occasional | | | 94 | | |
HP:0100827 | HP:0100827 | Lymphocytosis | 0 | KRAS CL E G H | 3845 | 6407 | OMIM:614470 | RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic | . | | | 196 | | |
HP:0100827 | HP:0100827 | Lymphocytosis | 0 | LMNB2 CL E G H | 84823 | 6638 | ORPHA:79087 | Acquired partial lipodystrophy | HP:0040282 - Frequent | | | 11 | | |
HP:0100827 | HP:0100827 | Lymphocytosis | 0 | NCKAP1L CL E G H | 3071 | 4862 | OMIM:618982 | IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72 | | | | | | |
HP:0100827 | HP:0100827 | Lymphocytosis | 0 | NRAS CL E G H | 4893 | 7989 | OMIM:614470 | RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic | . | | | 102 | | |
HP:0100827 | HP:0100827 | Lymphocytosis | 0 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0100827 | HP:0100827 | Lymphocytosis | 0 | PRKCD CL E G H | 5580 | 9399 | OMIM:615559 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3 | | | | 10 | | |
HP:0100827 | HP:0100827 | Lymphocytosis | 0 | PTPRC CL E G H | 5788 | 9666 | OMIM:619924 | | | | | 25 | | |
HP:0100827 | HP:0100827 | Lymphocytosis | 0 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | | | |
HP:0100827 | HP:0100827 | Lymphocytosis | 0 | REL CL E G H | 5966 | 9954 | OMIM:619652 | IMMUNODEFICIENCY 92; IMD92 | | | | 1 | | |
HP:0100827 | HP:0100827 | Lymphocytosis | 0 | RNASEH2B CL E G H | 79621 | 25671 | OMIM:610181 | Aicardi-Goutieres syndrome 2 | . | | | 34 | | |
HP:0100827 | HP:0100827 | Lymphocytosis | 0 | SH2D1A CL E G H | 4068 | 10820 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | . | | | 37 | | |
HP:0100827 | HP:0100827 | Lymphocytosis | 0 | XIAP CL E G H | 331 | 592 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | . | | | 81 | | |
HP:0100827 | HP:0100827 | Lymphocytosis | 0 | ZAP70 CL E G H | 7535 | 12858 | ORPHA:911 | Combined immunodeficiency due to ZAP70 deficiency | HP:0040283 - Occasional | | | 46 | | |
HP:0100827 | HP:0100828 | Increased T cell count | 1 | BTNL2 CL E G H | 56244 | 1142 | ORPHA:797 | Sarcoidosis | HP:0040282 - Frequent | | | 1 | | |
HP:0100827 | HP:0005404 | Increased B cell count | 1 | CARD11 CL E G H | 84433 | 16393 | OMIM:616452 | B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA | | | | 45 | | |
HP:0100827 | HP:0005404 | Increased B cell count | 1 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040282 - Frequent | | | 87 | | |
HP:0100827 | HP:0005404 | Increased B cell count | 1 | CASP10 CL E G H | 843 | 1500 | OMIM:603909 | Autoimmune lymphoproliferative syndrome, type IIA | . | | | 87 | | |
HP:0100827 | HP:0005404 | Increased B cell count | 1 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040282 - Frequent | | | 59 | | |
HP:0100827 | HP:0005404 | Increased B cell count | 1 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040282 - Frequent | | | 37 | | |
HP:0100827 | HP:0100828 | Increased T cell count | 1 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:797 | Sarcoidosis | HP:0040282 - Frequent | | | 2 | | |
HP:0100827 | HP:0005404 | Increased B cell count | 1 | NCKAP1L CL E G H | 3071 | 4862 | OMIM:618982 | IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72 | | | | | | |
HP:0100827 | HP:0005404 | Increased B cell count | 1 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040282 - Frequent | | | 10 | | |
HP:0100827 | HP:0005404 | Increased B cell count | 1 | PRKCD CL E G H | 5580 | 9399 | OMIM:615559 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3 | | | | 10 | | |
HP:0100827 | HP:0005404 | Increased B cell count | 1 | PTPRC CL E G H | 5788 | 9666 | OMIM:619924 | | | | | 25 | | |
HP:0100827 | HP:0005404 | Increased B cell count | 1 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040282 - Frequent | | | | | |