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:0001386 | HP:0001386 | Joint swelling | 0 | ACP5 CL E G H | 54 | 124 | OMIM:607944 | Spondyloenchondrodysplasia with immune dysregulation | | | | 16 | | |
HP:0001386 | HP:0001386 | Joint swelling | 0 | AIP CL E G H | 9049 | 358 | ORPHA:963 | Acromegaly | HP:0040281 - Very frequent | | | 95 | | |
HP:0001386 | HP:0001386 | Joint swelling | 0 | ANKH CL E G H | 56172 | 15492 | ORPHA:1416 | Familial calcium pyrophosphate deposition | HP:0040281 - Very frequent | | | 164 | | |
HP:0001386 | HP:0001386 | Joint swelling | 0 | ANKRD55 CL E G H | 79722 | 25681 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040282 - Frequent | | | | | |
HP:0001386 | HP:0001386 | Joint swelling | 0 | ASAH1 CL E G H | 427 | 735 | ORPHA:333 | Farber disease | HP:0040281 - Very frequent | | | 78 | | |
HP:0001386 | HP:0001386 | Joint swelling | 0 | ASAH1 CL E G H | 427 | 735 | OMIM:228000 | Farber lipogranulomatosis | . | | | 78 | | |
HP:0001386 | HP:0001386 | Joint swelling | 0 | ATP7B CL E G H | 540 | 870 | ORPHA:905 | Wilson disease | HP:0040281 - Very frequent | | | 315 | | |
HP:0001386 | HP:0001386 | Joint swelling | 0 | BMP6 CL E G H | 654 | 1073 | ORPHA:465508 | Symptomatic form of hemochromatosis type 1 | HP:0040283 - Occasional | | | | | |
HP:0001386 | HP:0001386 | Joint swelling | 0 | BTNL2 CL E G H | 56244 | 1142 | ORPHA:797 | Sarcoidosis | HP:0040282 - Frequent | | | 1 | | |
HP:0001386 | HP:0001386 | Joint swelling | 0 | CCN6 CL E G H | 8838 | 12771 | OMIM:208230 | Arthropathy, progressive pseudorheumatoid, of childhood | . | | | | | |
HP:0001386 | HP:0001386 | Joint swelling | 0 | CCN6 CL E G H | 8838 | 12771 | ORPHA:1159 | Progressive pseudorheumatoid arthropathy of childhood | HP:0040281 - Very frequent | | | | | |
HP:0001386 | HP:0001386 | Joint swelling | 0 | CD244 CL E G H | 51744 | 18171 | OMIM:180300 | RHEUMATOID ARTHRITIS; RA | | | | 2 | | |
HP:0001386 | HP:0001386 | Joint swelling | 0 | CD247 CL E G H | 919 | 1677 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040282 - Frequent | | | 8 | | |
HP:0001386 | HP:0001386 | Joint swelling | 0 | CHEK2 CL E G H | 11200 | 16627 | ORPHA:668 | Osteosarcoma | HP:0040282 - Frequent | | | 833 | | |
HP:0001386 | HP:0001386 | Joint swelling | 0 | CIITA CL E G H | 4261 | 7067 | OMIM:180300 | RHEUMATOID ARTHRITIS; RA | | | | 118 | | |
HP:0001386 | HP:0001386 | Joint swelling | 0 | COL1A1 CL E G H | 1277 | 2197 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 373 | | |
HP:0001386 | HP:0001386 | Joint swelling | 0 | COL5A1 CL E G H | 1289 | 2209 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 660 | | |
HP:0001386 | HP:0001386 | Joint swelling | 0 | COL5A2 CL E G H | 1290 | 2210 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 325 | | |
HP:0001386 | HP:0001386 | Joint swelling | 0 | DDR2 CL E G H | 4921 | 2731 | OMIM:618175 | WARBURG-CINOTTI SYNDROME; WRCN | | | | 45 | | |
HP:0001386 | HP:0001386 | Joint swelling | 0 | F8 CL E G H | 2157 | 3546 | ORPHA:169805 | Moderate hemophilia A | HP:0040283 - Occasional | | | 303 | | |
HP:0001386 | HP:0001386 | Joint swelling | 0 | F8 CL E G H | 2157 | 3546 | ORPHA:169802 | Severe hemophilia A | HP:0040282 - Frequent | | | 303 | | |
HP:0001386 | HP:0001386 | Joint swelling | 0 | FGA CL E G H | 2243 | 3661 | ORPHA:98880 | Familial afibrinogenemia | HP:0040281 - Very frequent | | | 47 | | |
HP:0001386 | HP:0001386 | Joint swelling | 0 | FGB CL E G H | 2244 | 3662 | ORPHA:98880 | Familial afibrinogenemia | HP:0040281 - Very frequent | | | 62 | | |
HP:0001386 | HP:0001386 | Joint swelling | 0 | FGG CL E G H | 2266 | 3694 | ORPHA:98880 | Familial afibrinogenemia | HP:0040281 - Very frequent | | | 34 | | |
HP:0001386 | HP:0001386 | Joint swelling | 0 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0001386 | HP:0001386 | Joint swelling | 0 | GPR101 CL E G H | 83550 | 14963 | ORPHA:963 | Acromegaly | HP:0040281 - Very frequent | | | 5 | | |
HP:0001386 | HP:0001386 | Joint swelling | 0 | HFE CL E G H | 3077 | 4886 | ORPHA:465508 | Symptomatic form of hemochromatosis type 1 | HP:0040283 - Occasional | | | 38 | | |
HP:0001386 | HP:0001386 | Joint swelling | 0 | HGD CL E G H | 3081 | 4892 | ORPHA:56 | Alkaptonuria | HP:0040281 - Very frequent | | | 77 | | |
HP:0001386 | HP:0001386 | Joint swelling | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:29207 | Reactive arthritis | HP:0040281 - Very frequent | | | 4 | | |
HP:0001386 | HP:0001386 | Joint swelling | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:797 | Sarcoidosis | HP:0040282 - Frequent | | | 2 | | |
HP:0001386 | HP:0001386 | Joint swelling | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:85414 | Systemic-onset juvenile idiopathic arthritis | HP:0040281 - Very frequent | | | 2 | | |
HP:0001386 | HP:0001386 | Joint swelling | 0 | HPGD CL E G H | 3248 | 5154 | ORPHA:1525 | Cranio-osteoarthropathy | HP:0040282 - Frequent | | | 55 | | |
HP:0001386 | HP:0001386 | Joint swelling | 0 | HPGD CL E G H | 3248 | 5154 | ORPHA:2796 | Pachydermoperiostosis | HP:0040282 - Frequent | | | 55 | | |
HP:0001386 | HP:0001386 | Joint swelling | 0 | IL10 CL E G H | 3586 | 5962 | OMIM:180300 | RHEUMATOID ARTHRITIS; RA | | | | 2 | | |
HP:0001386 | HP:0001386 | Joint swelling | 0 | IL1RN CL E G H | 3557 | 6000 | OMIM:612852 | Interleukin 1 receptor antagonist deficiency | | | | 40 | | |
HP:0001386 | HP:0001386 | Joint swelling | 0 | IL2RA CL E G H | 3559 | 6008 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040282 - Frequent | | | 65 | | |
HP:0001386 | HP:0001386 | Joint swelling | 0 | IL2RB CL E G H | 3560 | 6009 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040282 - Frequent | | | | | |
HP:0001386 | HP:0001386 | Joint swelling | 0 | IL6 CL E G H | 3569 | 6018 | ORPHA:85414 | Systemic-onset juvenile idiopathic arthritis | HP:0040281 - Very frequent | | | 2 | | |
HP:0001386 | HP:0001386 | Joint swelling | 0 | LACC1 CL E G H | 144811 | 26789 | ORPHA:85414 | Systemic-onset juvenile idiopathic arthritis | HP:0040281 - Very frequent | | | 1 | | |
HP:0001386 | HP:0001386 | Joint swelling | 0 | LPIN2 CL E G H | 9663 | 14450 | OMIM:609628 | MAJEED SYNDROME; MJDS | | | | 186 | | |
HP:0001386 | HP:0001386 | Joint swelling | 0 | MEFV CL E G H | 4210 | 6998 | ORPHA:329967 | Intermittent hydrarthrosis | HP:0040281 - Very frequent | | | 281 | | |
HP:0001386 | HP:0001386 | Joint swelling | 0 | MIF CL E G H | 4282 | 7097 | ORPHA:85414 | Systemic-onset juvenile idiopathic arthritis | HP:0040281 - Very frequent | | | 1 | | |
HP:0001386 | HP:0001386 | Joint swelling | 0 | NFKBIL1 CL E G H | 4795 | 7800 | OMIM:180300 | RHEUMATOID ARTHRITIS; RA | | | | 1 | | |
HP:0001386 | HP:0001386 | Joint swelling | 0 | NOD2 CL E G H | 64127 | 5331 | OMIM:186580 | Blau syndrome | | | | 187 | | |
HP:0001386 | HP:0001386 | Joint swelling | 0 | NOD2 CL E G H | 64127 | 5331 | ORPHA:90340 | Blau syndrome | HP:0040281 - Very frequent | | | 187 | | |
HP:0001386 | HP:0001386 | Joint swelling | 0 | OCRL CL E G H | 4952 | 8108 | ORPHA:534 | Oculocerebrorenal syndrome of Lowe | HP:0040282 - Frequent | | | 88 | | |
HP:0001386 | HP:0001386 | Joint swelling | 0 | OTULIN CL E G H | 90268 | 25118 | OMIM:617099 | AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS | | | | 3 | | |
HP:0001386 | HP:0001386 | Joint swelling | 0 | PTPN2 CL E G H | 5771 | 9650 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040282 - Frequent | | | | | |
HP:0001386 | HP:0001386 | Joint swelling | 0 | PTPN22 CL E G H | 26191 | 9652 | OMIM:180300 | RHEUMATOID ARTHRITIS; RA | | | | 3 | | |
HP:0001386 | HP:0001386 | Joint swelling | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040282 - Frequent | | | 3 | | |
HP:0001386 | HP:0001386 | Joint swelling | 0 | RB1 CL E G H | 5925 | 9884 | ORPHA:668 | Osteosarcoma | HP:0040282 - Frequent | | | 365 | | |
HP:0001386 | HP:0001386 | Joint swelling | 0 | SLC22A4 CL E G H | 6583 | 10968 | OMIM:180300 | RHEUMATOID ARTHRITIS; RA | | | | 3 | | |
HP:0001386 | HP:0001386 | Joint swelling | 0 | SLC40A1 CL E G H | 30061 | 10909 | ORPHA:139491 | Hemochromatosis type 4 | HP:0040281 - Very frequent | | | 56 | | |
HP:0001386 | HP:0001386 | Joint swelling | 0 | SLCO2A1 CL E G H | 6578 | 10955 | ORPHA:2796 | Pachydermoperiostosis | HP:0040282 - Frequent | | | 13 | | |
HP:0001386 | HP:0001386 | Joint swelling | 0 | STAT4 CL E G H | 6775 | 11365 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040282 - Frequent | | | 2 | | |
HP:0001386 | HP:0001386 | Joint swelling | 0 | SYK CL E G H | 6850 | 11491 | OMIM:619381 | IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82 | | | | 1 | | |
HP:0001386 | HP:0001386 | Joint swelling | 0 | TNFRSF11B CL E G H | 4982 | 11909 | ORPHA:1416 | Familial calcium pyrophosphate deposition | HP:0040281 - Very frequent | | | 44 | | |
HP:0001386 | HP:0001386 | Joint swelling | 0 | TNFRSF1A CL E G H | 7132 | 11916 | ORPHA:329967 | Intermittent hydrarthrosis | HP:0040281 - Very frequent | | | 131 | | |
HP:0001386 | HP:0001386 | Joint swelling | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:668 | Osteosarcoma | HP:0040282 - Frequent | | | 911 | | |
HP:0001386 | HP:0001386 | Joint swelling | 0 | TRAPPC2 CL E G H | 6399 | 23068 | ORPHA:93284 | Spondyloepiphyseal dysplasia tarda | HP:0040282 - Frequent | | | 46 | | |