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:0000554 | HP:0000554 | Uveitis | 0 | AIRE CL E G H | 326 | 360 | OMIM:240300 | AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1 | | | | 92 | | |
HP:0000554 | HP:0000554 | Uveitis | 0 | ANKRD55 CL E G H | 79722 | 25681 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | HP:0040282 - Frequent | | | | | |
HP:0000554 | HP:0000554 | Uveitis | 0 | ANKRD55 CL E G H | 79722 | 25681 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | | | |
HP:0000554 | HP:0000554 | Uveitis | 0 | ATOH7 CL E G H | 220202 | 13907 | OMIM:221900 | Persistent hyperplastic primary vitreous, autosomal recessive | HP:0040283 - Occasional | | | 4 | | |
HP:0000554 | HP:0000554 | Uveitis | 0 | BCL10 CL E G H | 8915 | 989 | ORPHA:52417 | MALT lymphoma | | | | 18 | | |
HP:0000554 | HP:0000554 | Uveitis | 0 | BIRC3 CL E G H | 330 | 591 | ORPHA:52417 | MALT lymphoma | | | | | | |
HP:0000554 | HP:0000554 | Uveitis | 0 | BLM CL E G H | 641 | 1058 | ORPHA:125 | Bloom syndrome | HP:0040283 - Occasional | | | 314 | | |
HP:0000554 | HP:0000554 | Uveitis | 0 | BTNL2 CL E G H | 56244 | 1142 | ORPHA:797 | Sarcoidosis | HP:0040282 - Frequent | | | 1 | | |
HP:0000554 | HP:0000554 | Uveitis | 0 | BTNL2 CL E G H | 56244 | 1142 | OMIM:612387 | Sarcoidosis, susceptibility to, 2 | . | | | 1 | | |
HP:0000554 | HP:0000554 | Uveitis | 0 | CAPN5 CL E G H | 726 | 1482 | OMIM:193235 | Vitreoretinopathy, neovascular inflammatory | . | | | 6 | | |
HP:0000554 | HP:0000554 | Uveitis | 0 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040284 - Very rare | | | 87 | | |
HP:0000554 | HP:0000554 | Uveitis | 0 | CD247 CL E G H | 919 | 1677 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | HP:0040282 - Frequent | | | 8 | | |
HP:0000554 | HP:0000554 | Uveitis | 0 | CD247 CL E G H | 919 | 1677 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 8 | | |
HP:0000554 | HP:0000554 | Uveitis | 0 | CD27 CL E G H | 939 | 11922 | OMIM:615122 | Lymphoproliferative syndrome 2 | | | | 4 | | |
HP:0000554 | HP:0000554 | Uveitis | 0 | DNASE1L3 CL E G H | 1776 | 2959 | ORPHA:36412 | Hypocomplementemic urticarial vasculitis | HP:0040282 - Frequent | | | 3 | | |
HP:0000554 | HP:0000554 | Uveitis | 0 | ERCC1 CL E G H | 2067 | 3433 | ORPHA:90322 | Cockayne syndrome type 2 | HP:0040283 - Occasional | | | 20 | | |
HP:0000554 | HP:0000554 | Uveitis | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040283 - Occasional | | | 158 | | |
HP:0000554 | HP:0000554 | Uveitis | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040283 - Occasional | | | 199 | | |
HP:0000554 | HP:0000554 | Uveitis | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90322 | Cockayne syndrome type 2 | HP:0040283 - Occasional | | | 199 | | |
HP:0000554 | HP:0000554 | Uveitis | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040283 - Occasional | | | 55 | | |
HP:0000554 | HP:0000554 | Uveitis | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90322 | Cockayne syndrome type 2 | HP:0040283 - Occasional | | | 55 | | |
HP:0000554 | HP:0000554 | Uveitis | 0 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040284 - Very rare | | | 59 | | |
HP:0000554 | HP:0000554 | Uveitis | 0 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040284 - Very rare | | | 37 | | |
HP:0000554 | HP:0000554 | Uveitis | 0 | FOXP1 CL E G H | 27086 | 3823 | ORPHA:52417 | MALT lymphoma | | | | 184 | | |
HP:0000554 | HP:0000554 | Uveitis | 0 | GPR35 CL E G H | 2859 | 4492 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040284 - Very rare | | | 2 | | |
HP:0000554 | HP:0000554 | Uveitis | 0 | HLA-B CL E G H | 3106 | 4932 | OMIM:106300 | Spondyloarthropathy, susceptibility to, 1 | | | | 4 | | |
HP:0000554 | HP:0000554 | Uveitis | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:797 | Sarcoidosis | HP:0040282 - Frequent | | | 2 | | |
HP:0000554 | HP:0000554 | Uveitis | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | OMIM:181000 | Sarcoidosis, susceptibility to, 1 | . | | | 2 | | |
HP:0000554 | HP:0000554 | Uveitis | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:85414 | Systemic-onset juvenile idiopathic arthritis | | | | 2 | | |
HP:0000554 | HP:0000554 | Uveitis | 0 | IGH CL E G H | 3492 | 5477 | ORPHA:52417 | MALT lymphoma | | | | 7 | | |
HP:0000554 | HP:0000554 | Uveitis | 0 | IKBKG CL E G H | 8517 | 5961 | OMIM:301081 | | | | | 52 | | |
HP:0000554 | HP:0000554 | Uveitis | 0 | IKBKG CL E G H | 8517 | 5961 | ORPHA:464 | Incontinentia pigmenti | HP:0040283 - Occasional | | | 52 | | |
HP:0000554 | HP:0000554 | Uveitis | 0 | IKBKG CL E G H | 8517 | 5961 | OMIM:308300 | Incontinentia pigmenti | . | | | 52 | | |
HP:0000554 | HP:0000554 | Uveitis | 0 | IL2RA CL E G H | 3559 | 6008 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | HP:0040282 - Frequent | | | 65 | | |
HP:0000554 | HP:0000554 | Uveitis | 0 | IL2RA CL E G H | 3559 | 6008 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 65 | | |
HP:0000554 | HP:0000554 | Uveitis | 0 | IL2RB CL E G H | 3560 | 6009 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | HP:0040282 - Frequent | | | | | |
HP:0000554 | HP:0000554 | Uveitis | 0 | IL2RB CL E G H | 3560 | 6009 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | | | |
HP:0000554 | HP:0000554 | Uveitis | 0 | IL6 CL E G H | 3569 | 6018 | ORPHA:85414 | Systemic-onset juvenile idiopathic arthritis | | | | 2 | | |
HP:0000554 | HP:0000554 | Uveitis | 0 | IRF4 CL E G H | 3662 | 6119 | ORPHA:3452 | Whipple disease | HP:0040282 - Frequent | | | 1 | | |
HP:0000554 | HP:0000554 | Uveitis | 0 | LACC1 CL E G H | 144811 | 26789 | ORPHA:85414 | Systemic-onset juvenile idiopathic arthritis | | | | 1 | | |
HP:0000554 | HP:0000554 | Uveitis | 0 | LRBA CL E G H | 987 | 1742 | OMIM:614700 | IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8 | | | | 45 | | |
HP:0000554 | HP:0000554 | Uveitis | 0 | MALT1 CL E G H | 10892 | 6819 | ORPHA:52417 | MALT lymphoma | | | | 6 | | |
HP:0000554 | HP:0000554 | Uveitis | 0 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:2273 | Ichthyosis follicularis-alopecia-photophobia syndrome | HP:0040283 - Occasional | | | 22 | | |
HP:0000554 | HP:0000554 | Uveitis | 0 | MIF CL E G H | 4282 | 7097 | ORPHA:85414 | Systemic-onset juvenile idiopathic arthritis | | | | 1 | | |
HP:0000554 | HP:0000554 | Uveitis | 0 | MST1 CL E G H | 4485 | 7380 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040284 - Very rare | | | 1 | | |
HP:0000554 | HP:0000554 | Uveitis | 0 | NLRP1 CL E G H | 22861 | 14374 | OMIM:617388 | AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK | | | | 37 | | |
HP:0000554 | HP:0000554 | Uveitis | 0 | NLRP3 CL E G H | 114548 | 16400 | ORPHA:1451 | CINCA syndrome | HP:0040281 - Very frequent | | | 217 | | |
HP:0000554 | HP:0000554 | Uveitis | 0 | NLRP3 CL E G H | 114548 | 16400 | OMIM:607115 | CINCA SYNDROME; CINCA | | | | 217 | | |
HP:0000554 | HP:0000554 | Uveitis | 0 | NLRP3 CL E G H | 114548 | 16400 | OMIM:120100 | FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1 | | | | 217 | | |
HP:0000554 | HP:0000554 | Uveitis | 0 | NLRP3 CL E G H | 114548 | 16400 | ORPHA:575 | Muckle-Wells syndrome | HP:0040281 - Very frequent | | | 217 | | |
HP:0000554 | HP:0000554 | Uveitis | 0 | NOD2 CL E G H | 64127 | 5331 | OMIM:186580 | Blau syndrome | | | | 187 | | |
HP:0000554 | HP:0000554 | Uveitis | 0 | NOD2 CL E G H | 64127 | 5331 | ORPHA:90340 | Blau syndrome | | | | 187 | | |
HP:0000554 | HP:0000554 | Uveitis | 0 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040284 - Very rare | | | 10 | | |
HP:0000554 | HP:0000554 | Uveitis | 0 | PTPN2 CL E G H | 5771 | 9650 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | HP:0040282 - Frequent | | | | | |
HP:0000554 | HP:0000554 | Uveitis | 0 | PTPN2 CL E G H | 5771 | 9650 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | | | |
HP:0000554 | HP:0000554 | Uveitis | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | HP:0040282 - Frequent | | | 3 | | |
HP:0000554 | HP:0000554 | Uveitis | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 3 | | |
HP:0000554 | HP:0000554 | Uveitis | 0 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040284 - Very rare | | | | | |
HP:0000554 | HP:0000554 | Uveitis | 0 | SEMA4D CL E G H | 10507 | 10732 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040284 - Very rare | | | | | |
HP:0000554 | HP:0000554 | Uveitis | 0 | STAT4 CL E G H | 6775 | 11365 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | HP:0040282 - Frequent | | | 2 | | |
HP:0000554 | HP:0000554 | Uveitis | 0 | STAT4 CL E G H | 6775 | 11365 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 2 | | |
HP:0000554 | HP:0000554 | Uveitis | 0 | STUB1 CL E G H | 10273 | 11427 | ORPHA:412057 | Autosomal recessive cerebellar ataxia due to STUB1 deficiency | | | | 14 | | |
HP:0000554 | HP:0000554 | Uveitis | 0 | TCF4 CL E G H | 6925 | 11634 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040284 - Very rare | | | 241 | | |
HP:0000554 | HP:0000554 | Uveitis | 0 | TKT CL E G H | 7086 | 11834 | OMIM:617044 | Short stature, developmental delay, and congenital heart defects | HP:0040283 - Occasional | | | 4 | | |
HP:0000554 | HP:0000554 | Uveitis | 0 | TKT CL E G H | 7086 | 11834 | ORPHA:488618 | Transketolase deficiency | HP:0040282 - Frequent | | | 4 | | |
HP:0000554 | HP:0000554 | Uveitis | 0 | TNFAIP3 CL E G H | 7128 | 11896 | OMIM:616744 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL | | | | 26 | | |
HP:0000554 | HP:0000554 | Uveitis | 0 | TNFRSF1A CL E G H | 7132 | 11916 | ORPHA:32960 | Tumor necrosis factor receptor 1 associated periodic syndrome | HP:0040283 - Occasional | | | 131 | | |
HP:0000554 | HP:0012124 | Intermediate uveitis | 1 | CL E G H | | | | | | | | | | |
HP:0000554 | HP:0012122 | Anterior uveitis | 1 | AIRE CL E G H | 326 | 360 | OMIM:240300 | AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1 | | | | 92 | | |
HP:0000554 | HP:0012122 | Anterior uveitis | 1 | ANKRD55 CL E G H | 79722 | 25681 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | | | |
HP:0000554 | HP:0012123 | Posterior uveitis | 1 | BCL10 CL E G H | 8915 | 989 | ORPHA:52417 | MALT lymphoma | HP:0040283 - Occasional | | | 18 | | |
HP:0000554 | HP:0012123 | Posterior uveitis | 1 | BIRC3 CL E G H | 330 | 591 | ORPHA:52417 | MALT lymphoma | HP:0040283 - Occasional | | | | | |
HP:0000554 | HP:0012122 | Anterior uveitis | 1 | CD247 CL E G H | 919 | 1677 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | 8 | | |
HP:0000554 | HP:0012123 | Posterior uveitis | 1 | FOXP1 CL E G H | 27086 | 3823 | ORPHA:52417 | MALT lymphoma | HP:0040283 - Occasional | | | 184 | | |
HP:0000554 | HP:0012122 | Anterior uveitis | 1 | HLA-B CL E G H | 3106 | 4932 | OMIM:106300 | Spondyloarthropathy, susceptibility to, 1 | . | | | 4 | | |
HP:0000554 | HP:0012122 | Anterior uveitis | 1 | HLA-DRB1 CL E G H | 3123 | 4948 | OMIM:181000 | Sarcoidosis, susceptibility to, 1 | | | | 2 | | |
HP:0000554 | HP:0012122 | Anterior uveitis | 1 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:85414 | Systemic-onset juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 2 | | |
HP:0000554 | HP:0012123 | Posterior uveitis | 1 | IGH CL E G H | 3492 | 5477 | ORPHA:52417 | MALT lymphoma | HP:0040283 - Occasional | | | 7 | | |
HP:0000554 | HP:0012122 | Anterior uveitis | 1 | IKBKG CL E G H | 8517 | 5961 | OMIM:301081 | | | | | 52 | | |
HP:0000554 | HP:0012121 | Panuveitis | 1 | IKBKG CL E G H | 8517 | 5961 | OMIM:301081 | | | | | 52 | | |
HP:0000554 | HP:0012122 | Anterior uveitis | 1 | IL2RA CL E G H | 3559 | 6008 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | 65 | | |
HP:0000554 | HP:0012122 | Anterior uveitis | 1 | IL2RB CL E G H | 3560 | 6009 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | | | |
HP:0000554 | HP:0012122 | Anterior uveitis | 1 | IL6 CL E G H | 3569 | 6018 | ORPHA:85414 | Systemic-onset juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 2 | | |
HP:0000554 | HP:0012122 | Anterior uveitis | 1 | LACC1 CL E G H | 144811 | 26789 | ORPHA:85414 | Systemic-onset juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 1 | | |
HP:0000554 | HP:0012123 | Posterior uveitis | 1 | MALT1 CL E G H | 10892 | 6819 | ORPHA:52417 | MALT lymphoma | HP:0040283 - Occasional | | | 6 | | |
HP:0000554 | HP:0012122 | Anterior uveitis | 1 | MIF CL E G H | 4282 | 7097 | ORPHA:85414 | Systemic-onset juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 1 | | |
HP:0000554 | HP:0012123 | Posterior uveitis | 1 | NOD2 CL E G H | 64127 | 5331 | ORPHA:90340 | Blau syndrome | HP:0040281 - Very frequent | | | 187 | | |
HP:0000554 | HP:0012122 | Anterior uveitis | 1 | NOD2 CL E G H | 64127 | 5331 | ORPHA:90340 | Blau syndrome | | | | 187 | | |
HP:0000554 | HP:0007813 | Nongranulomatous uveitis | 1 | NOD2 CL E G H | 64127 | 5331 | OMIM:186580 | Blau syndrome | . | | | 187 | | |
HP:0000554 | HP:0012122 | Anterior uveitis | 1 | PTPN2 CL E G H | 5771 | 9650 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | | | |
HP:0000554 | HP:0012122 | Anterior uveitis | 1 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | 3 | | |
HP:0000554 | HP:0012122 | Anterior uveitis | 1 | STAT4 CL E G H | 6775 | 11365 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | 2 | | |
HP:0000554 | HP:0012122 | Anterior uveitis | 1 | STUB1 CL E G H | 10273 | 11427 | ORPHA:412057 | Autosomal recessive cerebellar ataxia due to STUB1 deficiency | | | | 14 | | |
HP:0000554 | HP:0012122 | Anterior uveitis | 1 | TNFAIP3 CL E G H | 7128 | 11896 | OMIM:616744 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL | | | | 26 | | |
HP:0000554 | HP:0001094 | Iridocyclitis | 2 | AIRE CL E G H | 326 | 360 | OMIM:240300 | AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1 | | | | 92 | | |
HP:0000554 | HP:0001094 | Iridocyclitis | 2 | ANKRD55 CL E G H | 79722 | 25681 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040284 - Very rare | | | | | |
HP:0000554 | HP:0001094 | Iridocyclitis | 2 | CD247 CL E G H | 919 | 1677 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040284 - Very rare | | | 8 | | |
HP:0000554 | HP:0001094 | Iridocyclitis | 2 | HLA-DRB1 CL E G H | 3123 | 4948 | OMIM:181000 | Sarcoidosis, susceptibility to, 1 | . | | | 2 | | |
HP:0000554 | HP:0001094 | Iridocyclitis | 2 | IL2RA CL E G H | 3559 | 6008 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040284 - Very rare | | | 65 | | |
HP:0000554 | HP:0001094 | Iridocyclitis | 2 | IL2RB CL E G H | 3560 | 6009 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040284 - Very rare | | | | | |
HP:0000554 | HP:0001094 | Iridocyclitis | 2 | NOD2 CL E G H | 64127 | 5331 | ORPHA:90340 | Blau syndrome | HP:0040281 - Very frequent | | | 187 | | |
HP:0000554 | HP:0001094 | Iridocyclitis | 2 | PTPN2 CL E G H | 5771 | 9650 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040284 - Very rare | | | | | |
HP:0000554 | HP:0001094 | Iridocyclitis | 2 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040284 - Very rare | | | 3 | | |
HP:0000554 | HP:0001094 | Iridocyclitis | 2 | STAT4 CL E G H | 6775 | 11365 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040284 - Very rare | | | 2 | | |
HP:0000554 | HP:0001094 | Iridocyclitis | 2 | STUB1 CL E G H | 10273 | 11427 | ORPHA:412057 | Autosomal recessive cerebellar ataxia due to STUB1 deficiency | HP:0040284 - Very rare | | | 14 | | |