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:0011227 | HP:0011227 | Elevated circulating C-reactive protein concentration | 0 | ADA2 CL E G H | 51816 | 1839 | OMIM:615688 | Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome | | | | 22 | | |
HP:0011227 | HP:0011227 | Elevated circulating C-reactive protein concentration | 0 | ARPC1B CL E G H | 10095 | 704 | OMIM:617718 | Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease | | | | | | |
HP:0011227 | HP:0011227 | Elevated circulating C-reactive protein concentration | 0 | C2ORF69 CL E G H | 205327 | 26799 | OMIM:619423 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53 | | | | | | |
HP:0011227 | HP:0011227 | Elevated circulating C-reactive protein concentration | 0 | CARD10 CL E G H | 29775 | 16422 | OMIM:619632 | IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89 | | | | 5 | | |
HP:0011227 | HP:0011227 | Elevated circulating C-reactive protein concentration | 0 | CASR CL E G H | 846 | 1514 | ORPHA:676 | Hereditary chronic pancreatitis | HP:0040281 - Very frequent | | | 272 | | |
HP:0011227 | HP:0011227 | Elevated circulating C-reactive protein concentration | 0 | CD244 CL E G H | 51744 | 18171 | OMIM:180300 | RHEUMATOID ARTHRITIS; RA | | | | 2 | | |
HP:0011227 | HP:0011227 | Elevated circulating C-reactive protein concentration | 0 | CFTR CL E G H | 1080 | 1884 | ORPHA:676 | Hereditary chronic pancreatitis | HP:0040281 - Very frequent | | | 1371 | | |
HP:0011227 | HP:0011227 | Elevated circulating C-reactive protein concentration | 0 | CIITA CL E G H | 4261 | 7067 | OMIM:180300 | RHEUMATOID ARTHRITIS; RA | | | | 118 | | |
HP:0011227 | HP:0011227 | Elevated circulating C-reactive protein concentration | 0 | COPA CL E G H | 1314 | 2230 | OMIM:616414 | AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE; AILJK | | | | 5 | | |
HP:0011227 | HP:0011227 | Elevated circulating C-reactive protein concentration | 0 | CPA1 CL E G H | 1357 | 2296 | ORPHA:676 | Hereditary chronic pancreatitis | HP:0040281 - Very frequent | | | 5 | | |
HP:0011227 | HP:0011227 | Elevated circulating C-reactive protein concentration | 0 | CTLA4 CL E G H | 1493 | 2505 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040282 - Frequent | | | 10 | | |
HP:0011227 | HP:0011227 | Elevated circulating C-reactive protein concentration | 0 | CTRC CL E G H | 11330 | 2523 | ORPHA:676 | Hereditary chronic pancreatitis | HP:0040281 - Very frequent | | | 39 | | |
HP:0011227 | HP:0011227 | Elevated circulating C-reactive protein concentration | 0 | DEF6 CL E G H | 50619 | 2760 | OMIM:619573 | IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87 | | | | | | |
HP:0011227 | HP:0011227 | Elevated circulating C-reactive protein concentration | 0 | ELF4 CL E G H | 2000 | 3319 | OMIM:301074 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2 | | | | 1 | | |
HP:0011227 | HP:0011227 | Elevated circulating C-reactive protein concentration | 0 | HLA-DPA1 CL E G H | 3113 | 4938 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040282 - Frequent | | | | | |
HP:0011227 | HP:0011227 | Elevated circulating C-reactive protein concentration | 0 | HLA-DPB1 CL E G H | 3115 | 4940 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040282 - Frequent | | | 1 | | |
HP:0011227 | HP:0011227 | Elevated circulating C-reactive protein concentration | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:85414 | Systemic-onset juvenile idiopathic arthritis | HP:0040281 - Very frequent | | | 2 | | |
HP:0011227 | HP:0011227 | Elevated circulating C-reactive protein concentration | 0 | HMOX1 CL E G H | 3162 | 5013 | OMIM:614034 | HEME OXYGENASE 1 DEFICIENCY; HMOX1D | | | | 3 | | |
HP:0011227 | HP:0011227 | Elevated circulating C-reactive protein concentration | 0 | IL10 CL E G H | 3586 | 5962 | OMIM:180300 | RHEUMATOID ARTHRITIS; RA | | | | 2 | | |
HP:0011227 | HP:0011227 | Elevated circulating C-reactive protein concentration | 0 | IL1RN CL E G H | 3557 | 6000 | OMIM:612852 | Interleukin 1 receptor antagonist deficiency | | | | 40 | | |
HP:0011227 | HP:0011227 | Elevated circulating C-reactive protein concentration | 0 | IL36RN CL E G H | 26525 | 15561 | OMIM:614204 | PSORIASIS 14, PUSTULAR; PSORS14 | | | | 51 | | |
HP:0011227 | HP:0011227 | Elevated circulating C-reactive protein concentration | 0 | IL37 CL E G H | 27178 | 15563 | OMIM:619398 | INFLAMMATORY BOWEL DISEASE (INFANTILE ULCERATIVE COLITIS) 31, AUTOSOMAL RECESSIVE; IBD31 | | | | | | |
HP:0011227 | HP:0011227 | Elevated circulating C-reactive protein concentration | 0 | IL6 CL E G H | 3569 | 6018 | ORPHA:85414 | Systemic-onset juvenile idiopathic arthritis | HP:0040281 - Very frequent | | | 2 | | |
HP:0011227 | HP:0011227 | Elevated circulating C-reactive protein concentration | 0 | IL6ST CL E G H | 3572 | 6021 | OMIM:619750 | IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94 | | | | | | |
HP:0011227 | HP:0011227 | Elevated circulating C-reactive protein concentration | 0 | ITGB2 CL E G H | 3689 | 6155 | OMIM:116920 | Leukocyte adhesion deficiency, type I | | | | 114 | | |
HP:0011227 | HP:0011227 | Elevated circulating C-reactive protein concentration | 0 | ITK CL E G H | 3702 | 6171 | OMIM:613011 | LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1 | | | | 51 | | |
HP:0011227 | HP:0011227 | Elevated circulating C-reactive protein concentration | 0 | LACC1 CL E G H | 144811 | 26789 | ORPHA:85414 | Systemic-onset juvenile idiopathic arthritis | HP:0040281 - Very frequent | | | 1 | | |
HP:0011227 | HP:0011227 | Elevated circulating C-reactive protein concentration | 0 | MEFV CL E G H | 4210 | 6998 | OMIM:249100 | Familial Mediterranean fever, AR | | | | 281 | | |
HP:0011227 | HP:0011227 | Elevated circulating C-reactive protein concentration | 0 | MEFV CL E G H | 4210 | 6998 | OMIM:608068 | NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE | | | | 281 | | |
HP:0011227 | HP:0011227 | Elevated circulating C-reactive protein concentration | 0 | MEFV CL E G H | 4210 | 6998 | ORPHA:3243 | Sweet syndrome | HP:0040282 - Frequent | | | 281 | | |
HP:0011227 | HP:0011227 | Elevated circulating C-reactive protein concentration | 0 | MIF CL E G H | 4282 | 7097 | ORPHA:85414 | Systemic-onset juvenile idiopathic arthritis | HP:0040281 - Very frequent | | | 1 | | |
HP:0011227 | HP:0011227 | Elevated circulating C-reactive protein concentration | 0 | MVK CL E G H | 4598 | 7530 | OMIM:610377 | Mevalonic aciduria | | | | 150 | | |
HP:0011227 | HP:0011227 | Elevated circulating C-reactive protein concentration | 0 | NFKBIL1 CL E G H | 4795 | 7800 | OMIM:180300 | RHEUMATOID ARTHRITIS; RA | | | | 1 | | |
HP:0011227 | HP:0011227 | Elevated circulating C-reactive protein concentration | 0 | NLRC4 CL E G H | 58484 | 16412 | OMIM:616050 | AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC | | | | 30 | | |
HP:0011227 | HP:0011227 | Elevated circulating C-reactive protein concentration | 0 | NLRP1 CL E G H | 22861 | 14374 | OMIM:617388 | AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK | | | | 37 | | |
HP:0011227 | HP:0011227 | Elevated circulating C-reactive protein concentration | 0 | NLRP12 CL E G H | 91662 | 22938 | OMIM:611762 | Familial cold autoinflammatory syndrome 2 | | | | 99 | | |
HP:0011227 | HP:0011227 | Elevated circulating C-reactive protein concentration | 0 | NLRP3 CL E G H | 114548 | 16400 | ORPHA:1451 | CINCA syndrome | HP:0040281 - Very frequent | | | 217 | | |
HP:0011227 | HP:0011227 | Elevated circulating C-reactive protein concentration | 0 | NLRP3 CL E G H | 114548 | 16400 | OMIM:607115 | CINCA SYNDROME; CINCA | | | | 217 | | |
HP:0011227 | HP:0011227 | Elevated circulating C-reactive protein concentration | 0 | NLRP3 CL E G H | 114548 | 16400 | OMIM:120100 | FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1 | | | | 217 | | |
HP:0011227 | HP:0011227 | Elevated circulating C-reactive protein concentration | 0 | NLRP3 CL E G H | 114548 | 16400 | OMIM:191900 | Muckle-Wells syndrome | | | | 217 | | |
HP:0011227 | HP:0011227 | Elevated circulating C-reactive protein concentration | 0 | OTULIN CL E G H | 90268 | 25118 | OMIM:617099 | AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS | | | | 3 | | |
HP:0011227 | HP:0011227 | Elevated circulating C-reactive protein concentration | 0 | POMP CL E G H | 51371 | 20330 | OMIM:618048 | Proteasome-Associated autoinflammatory syndrome 2 | | | | 2 | | |
HP:0011227 | HP:0011227 | Elevated circulating C-reactive protein concentration | 0 | PRKCD CL E G H | 5580 | 9399 | OMIM:615559 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3 | | | | 10 | | |
HP:0011227 | HP:0011227 | Elevated circulating C-reactive protein concentration | 0 | PRSS1 CL E G H | 5644 | 9475 | ORPHA:676 | Hereditary chronic pancreatitis | HP:0040281 - Very frequent | | | 51 | | |
HP:0011227 | HP:0011227 | Elevated circulating C-reactive protein concentration | 0 | PRSS2 CL E G H | 5645 | 9483 | ORPHA:676 | Hereditary chronic pancreatitis | HP:0040281 - Very frequent | | | 1 | | |
HP:0011227 | HP:0011227 | Elevated circulating C-reactive protein concentration | 0 | PRTN3 CL E G H | 5657 | 9495 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040282 - Frequent | | | | | |
HP:0011227 | HP:0011227 | Elevated circulating C-reactive protein concentration | 0 | PSMB8 CL E G H | 5696 | 9545 | OMIM:256040 | Proteasome-associated autoinflammatory syndrome 1 and digenic forms | | | | 20 | | |
HP:0011227 | HP:0011227 | Elevated circulating C-reactive protein concentration | 0 | PSTPIP1 CL E G H | 9051 | 9580 | OMIM:604416 | Pyogenic sterile arthritis, pyoderma gangrenosum, and acne | | | | 96 | | |
HP:0011227 | HP:0011227 | Elevated circulating C-reactive protein concentration | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040282 - Frequent | | | 3 | | |
HP:0011227 | HP:0011227 | Elevated circulating C-reactive protein concentration | 0 | PTPN22 CL E G H | 26191 | 9652 | OMIM:180300 | RHEUMATOID ARTHRITIS; RA | | | | 3 | | |
HP:0011227 | HP:0011227 | Elevated circulating C-reactive protein concentration | 0 | SH2D1A CL E G H | 4068 | 10820 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | | | | 37 | | |
HP:0011227 | HP:0011227 | Elevated circulating C-reactive protein concentration | 0 | SLC22A4 CL E G H | 6583 | 10968 | OMIM:180300 | RHEUMATOID ARTHRITIS; RA | | | | 3 | | |
HP:0011227 | HP:0011227 | Elevated circulating C-reactive protein concentration | 0 | SPINK1 CL E G H | 6690 | 11244 | ORPHA:676 | Hereditary chronic pancreatitis | HP:0040281 - Very frequent | | | 34 | | |
HP:0011227 | HP:0011227 | Elevated circulating C-reactive protein concentration | 0 | STING1 CL E G H | 340061 | 27962 | OMIM:615934 | STING-associated vasculopathy, infantile-onset | | | | | | |
HP:0011227 | HP:0011227 | Elevated circulating C-reactive protein concentration | 0 | SYK CL E G H | 6850 | 11491 | OMIM:619381 | IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82 | | | | 1 | | |
HP:0011227 | HP:0011227 | Elevated circulating C-reactive protein concentration | 0 | TBK1 CL E G H | 29110 | 11584 | ORPHA:1930 | Herpes simplex virus encephalitis | HP:0040283 - Occasional | | | 20 | | |
HP:0011227 | HP:0011227 | Elevated circulating C-reactive protein concentration | 0 | TICAM1 CL E G H | 148022 | 18348 | ORPHA:1930 | Herpes simplex virus encephalitis | HP:0040283 - Occasional | | | 6 | | |
HP:0011227 | HP:0011227 | Elevated circulating C-reactive protein concentration | 0 | TLR3 CL E G H | 7098 | 11849 | ORPHA:1930 | Herpes simplex virus encephalitis | HP:0040283 - Occasional | | | 3 | | |
HP:0011227 | HP:0011227 | Elevated circulating C-reactive protein concentration | 0 | TNFRSF1A CL E G H | 7132 | 11916 | ORPHA:32960 | Tumor necrosis factor receptor 1 associated periodic syndrome | HP:0040281 - Very frequent | | | 131 | | |
HP:0011227 | HP:0011227 | Elevated circulating C-reactive protein concentration | 0 | TRAF3 CL E G H | 7187 | 12033 | ORPHA:1930 | Herpes simplex virus encephalitis | HP:0040283 - Occasional | | | 2 | | |
HP:0011227 | HP:0011227 | Elevated circulating C-reactive protein concentration | 0 | UBA1 CL E G H | 7317 | 12469 | OMIM:301054 | VEXAS SYNDROME; VEXAS | | | | 35 | | |
HP:0011227 | HP:0011227 | Elevated circulating C-reactive protein concentration | 0 | UNC93B1 CL E G H | 81622 | 13481 | ORPHA:1930 | Herpes simplex virus encephalitis | HP:0040283 - Occasional | | | 5 | | |
HP:0011227 | HP:0011227 | Elevated circulating C-reactive protein concentration | 0 | XIAP CL E G H | 331 | 592 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | | | | 81 | | |
HP:0011227 | HP:0011227 | Elevated circulating C-reactive protein concentration | 0 | ZNFX1 CL E G H | 57169 | 29271 | OMIM:619644 | IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91 | | | | | | |