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:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | ABCA12 CL E G H | 26154 | 14637 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | | | | 130 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | ADAM17 CL E G H | 6868 | 195 | OMIM:614328 | INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1 | | | | 2 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | ADAM17 CL E G H | 6868 | 195 | ORPHA:294023 | Neonatal inflammatory skin and bowel disease | | | | 2 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | AEBP1 CL E G H | 165 | 303 | ORPHA:536532 | Classical-like Ehlers-Danlos syndrome type 2 | | | | | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | AIRE CL E G H | 326 | 360 | OMIM:240300 | AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1 | | | | 92 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | ALDH3A2 CL E G H | 224 | 403 | ORPHA:816 | Sjögren-Larsson syndrome | HP:0040282 - Frequent | | | 87 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | ALOX12B CL E G H | 242 | 430 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | | | | 75 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | ALOXE3 CL E G H | 59344 | 13743 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | | | | 63 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | ANKRD55 CL E G H | 79722 | 25681 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | | | | | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | ANKRD55 CL E G H | 79722 | 25681 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | AP1B1 CL E G H | 162 | 554 | OMIM:242150 | Ichthyosiform erythroderma, corneal involvement, and deafness | | | | | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | APOE CL E G H | 348 | 613 | ORPHA:158029 | Sea-blue histiocytosis | | | | 39 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | ARPC1B CL E G H | 10095 | 704 | OMIM:617718 | Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease | | | | | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | ATOH7 CL E G H | 220202 | 13907 | OMIM:221900 | Persistent hyperplastic primary vitreous, autosomal recessive | | | | 4 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | BAP1 CL E G H | 8314 | 950 | ORPHA:39044 | Uveal melanoma | HP:0040284 - Very rare | | | 184 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | BCL10 CL E G H | 8915 | 989 | ORPHA:52417 | MALT lymphoma | | | | 18 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | BIRC3 CL E G H | 330 | 591 | ORPHA:52417 | MALT lymphoma | | | | | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | BLM CL E G H | 641 | 1058 | ORPHA:125 | Bloom syndrome | | | | 314 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | BLNK CL E G H | 29760 | 14211 | ORPHA:33110 | Autosomal agammaglobulinemia | | | | 4 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | BRD4 CL E G H | 23476 | 13575 | ORPHA:199 | Cornelia de Lange syndrome | | | | | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | BTD CL E G H | 686 | 1122 | ORPHA:79241 | Biotinidase deficiency | | | | 223 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | BTD CL E G H | 686 | 1122 | OMIM:253260 | Biotinidase deficiencymultiple carboxylase deficiency, late-onset | | | | 223 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | BTK CL E G H | 695 | 1133 | OMIM:300755 | Agammaglobulinemia, X-linked | | | | 109 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | BTK CL E G H | 695 | 1133 | OMIM:307200 | Isolated growth hormone deficiency, type III, with agammaglobulinemia | | | | 109 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | BTK CL E G H | 695 | 1133 | ORPHA:47 | X-linked agammaglobulinemia | | | | 109 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | BTNL2 CL E G H | 56244 | 1142 | ORPHA:797 | Sarcoidosis | | | | 1 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | BTNL2 CL E G H | 56244 | 1142 | OMIM:612387 | Sarcoidosis, susceptibility to, 2 | | | | 1 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | C4A CL E G H | 720 | 1323 | ORPHA:117 | Behçet disease | | | | 1 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | CAPN5 CL E G H | 726 | 1482 | OMIM:193235 | Vitreoretinopathy, neovascular inflammatory | | | | 6 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | CARS1 CL E G H | 833 | 1493 | ORPHA:33364 | Trichothiodystrophy | | | | | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 87 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | CCR1 CL E G H | 1230 | 1602 | ORPHA:117 | Behçet disease | | | | | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | CD19 CL E G H | 930 | 1633 | OMIM:240500 | Immunodeficiency, common variable, 2 | | | | 38 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | CD19 CL E G H | 930 | 1633 | OMIM:613493 | IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3 | | | | 38 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | CD247 CL E G H | 919 | 1677 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | | | | 8 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | CD247 CL E G H | 919 | 1677 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | 8 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | CD27 CL E G H | 939 | 11922 | OMIM:615122 | Lymphoproliferative syndrome 2 | | | | 4 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | CD79A CL E G H | 973 | 1698 | ORPHA:33110 | Autosomal agammaglobulinemia | | | | 9 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | CD79B CL E G H | 974 | 1699 | OMIM:612692 | Agammaglobulinemia 6, autosomal recessive | | | | 6 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | CD79B CL E G H | 974 | 1699 | ORPHA:33110 | Autosomal agammaglobulinemia | | | | 6 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | CERS3 CL E G H | 204219 | 23752 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | | | | 5 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | CLTCL1 CL E G H | 8218 | 2093 | ORPHA:453510 | Congenital insensitivity to pain with severe intellectual disability | | | | 6 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | COL17A1 CL E G H | 1308 | 2194 | ORPHA:293381 | Epithelial recurrent erosion dystrophy | | | | 129 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | COL4A5 CL E G H | 1287 | 2207 | ORPHA:1018 | X-linked Alport syndrome-diffuse leiomyomatosis | | | | 678 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | COL4A6 CL E G H | 1288 | 2208 | ORPHA:1018 | X-linked Alport syndrome-diffuse leiomyomatosis | | | | 18 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | COL7A1 CL E G H | 1294 | 2214 | OMIM:226600 | Epidermolysis bullosa dystrophica, autosomal recessive | | | | 263 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | CR2 CL E G H | 1380 | 2336 | OMIM:240500 | Immunodeficiency, common variable, 2 | | | | 10 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | CRLF1 CL E G H | 9244 | 2364 | OMIM:272430 | Crisponi/cold-induced sweating syndrome 1 | | | | 24 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | CST6 CL E G H | 1474 | 2478 | OMIM:618535 | Ectodermal dysplasia 15, Hypohidrotic/hair type | | | | | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | CTC1 CL E G H | 80169 | 26169 | ORPHA:1775 | Dyskeratosis congenita | | | | 160 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | CTLA4 CL E G H | 1493 | 2505 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040282 - Frequent | | | 10 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | CYBA CL E G H | 1535 | 2577 | ORPHA:379 | Chronic granulomatous disease | HP:0040283 - Occasional | | | 27 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | CYBB CL E G H | 1536 | 2578 | ORPHA:379 | Chronic granulomatous disease | HP:0040283 - Occasional | | | 111 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | CYBC1 CL E G H | 79415 | 28672 | ORPHA:379 | Chronic granulomatous disease | HP:0040283 - Occasional | | | | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | CYSLTR2 CL E G H | 57105 | 18274 | ORPHA:39044 | Uveal melanoma | HP:0040284 - Very rare | | | 1 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | DDB2 CL E G H | 1643 | 2718 | ORPHA:910 | Xeroderma pigmentosum | | | | 30 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | DDB2 CL E G H | 1643 | 2718 | OMIM:278740 | Xeroderma pigmentosum, complementation group E | | | | 30 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | DKC1 CL E G H | 1736 | 2890 | ORPHA:1775 | Dyskeratosis congenita | | | | 65 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | DKC1 CL E G H | 1736 | 2890 | OMIM:305000 | Dyskeratosis congenita, X-linked | | | | 65 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | DNASE1L3 CL E G H | 1776 | 2959 | ORPHA:36412 | Hypocomplementemic urticarial vasculitis | HP:0040282 - Frequent | | | 3 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | EGFR CL E G H | 1956 | 3236 | ORPHA:294023 | Neonatal inflammatory skin and bowel disease | | | | 257 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | EPCAM CL E G H | 4072 | 11529 | ORPHA:92050 | Congenital tufting enteropathy | | | | 170 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | ERAP1 CL E G H | 51752 | 18173 | ORPHA:117 | Behçet disease | | | | 1 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | ERCC1 CL E G H | 2067 | 3433 | ORPHA:90322 | Cockayne syndrome type 2 | | | | 20 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:33364 | Trichothiodystrophy | | | | 106 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | ERCC2 CL E G H | 2068 | 3434 | OMIM:601675 | Trichothiodystrophy 1, photosensitive | | | | 106 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:910 | Xeroderma pigmentosum | | | | 106 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | ERCC2 CL E G H | 2068 | 3434 | OMIM:278730 | Xeroderma pigmentosum, complementation group D | | | | 106 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:33364 | Trichothiodystrophy | | | | 54 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:910 | Xeroderma pigmentosum | | | | 54 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:90321 | Cockayne syndrome type 1 | | | | 158 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:910 | Xeroderma pigmentosum | | | | 158 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | ERCC5 CL E G H | 2073 | 3437 | ORPHA:910 | Xeroderma pigmentosum | | | | 83 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90321 | Cockayne syndrome type 1 | | | | 199 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90322 | Cockayne syndrome type 2 | | | | 199 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90324 | Cockayne syndrome type 3 | | | | 199 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:278800 | De Sanctis-Cacchione syndrome | | | | 199 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90321 | Cockayne syndrome type 1 | | | | 55 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90322 | Cockayne syndrome type 2 | | | | 55 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90324 | Cockayne syndrome type 3 | | | | 55 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | ERF CL E G H | 2077 | 3444 | ORPHA:207 | Crouzon disease | | | | 12 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 59 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | FAS CL E G H | 355 | 11920 | ORPHA:117 | Behçet disease | | | | 59 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 37 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:616914 | Marfan lipodystrophy syndrome | | | | 1361 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | FERMT1 CL E G H | 55612 | 15889 | ORPHA:2908 | Kindler epidermolysis bullosa | | | | 136 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | FGF10 CL E G H | 2255 | 3666 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | | | | 17 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:207 | Crouzon disease | | | | 175 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:123500 | Crouzon syndrome | | | | 175 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | | | | 175 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:93262 | Crouzon syndrome-acanthosis nigricans syndrome | HP:0040282 - Frequent | | | 145 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | | | | 145 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | FOXC2 CL E G H | 2303 | 3801 | OMIM:153400 | Lymphedema-Distichiasis syndrome | | | | 20 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | FOXC2 CL E G H | 2303 | 3801 | ORPHA:33001 | Lymphedema-distichiasis syndrome | | | | 20 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | FOXP1 CL E G H | 27086 | 3823 | ORPHA:52417 | MALT lymphoma | | | | 184 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | GATA1 CL E G H | 2623 | 4170 | ORPHA:79277 | Congenital erythropoietic porphyria | | | | 29 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | GJB2 CL E G H | 2706 | 4284 | OMIM:602540 | Ichthyosis, hystrix-like, with deafness | | | | 199 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | GJB2 CL E G H | 2706 | 4284 | OMIM:148210 | Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant | | | | 199 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | GJB2 CL E G H | 2706 | 4284 | ORPHA:477 | KID syndrome | | | | 199 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | GJB6 CL E G H | 10804 | 4288 | OMIM:129500 | Clouston syndrome | | | | 56 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | GJB6 CL E G H | 10804 | 4288 | ORPHA:477 | KID syndrome | | | | 56 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | GNA11 CL E G H | 2767 | 4379 | ORPHA:39044 | Uveal melanoma | HP:0040284 - Very rare | | | 16 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | GNAQ CL E G H | 2776 | 4390 | ORPHA:39044 | Uveal melanoma | HP:0040284 - Very rare | | | 7 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:79443 | Pseudohypoparathyroidism type 1A | | | | 101 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:94089 | Pseudohypoparathyroidism type 1B | | | | 101 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:79444 | Pseudohypoparathyroidism type 1C | | | | 101 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | GPR35 CL E G H | 2859 | 4492 | ORPHA:171 | Primary sclerosing cholangitis | | | | 2 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | GSN CL E G H | 2934 | 4620 | ORPHA:85448 | AGel amyloidosis | | | | 53 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | GTF2E2 CL E G H | 2961 | 4651 | ORPHA:33364 | Trichothiodystrophy | | | | 2 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | GTF2H5 CL E G H | 404672 | 21157 | ORPHA:33364 | Trichothiodystrophy | | | | 3 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | HDAC8 CL E G H | 55869 | 13315 | ORPHA:199 | Cornelia de Lange syndrome | | | | 37 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | HLA-A CL E G H | 3105 | 4931 | ORPHA:179 | Birdshot chorioretinopathy | HP:0040282 - Frequent | | | 4 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:117 | Behçet disease | | | | 4 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:29207 | Reactive arthritis | | | | 4 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | HLA-B CL E G H | 3106 | 4932 | OMIM:106300 | Spondyloarthropathy, susceptibility to, 1 | | | | 4 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:36426 | Stevens-Johnson syndrome | | | | 4 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:3287 | Takayasu arteritis | HP:0040282 - Frequent | | | 4 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | HLA-DPA1 CL E G H | 3113 | 4938 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040282 - Frequent | | | | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | HLA-DPB1 CL E G H | 3115 | 4940 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040282 - Frequent | | | 1 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:797 | Sarcoidosis | | | | 2 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | OMIM:181000 | Sarcoidosis, susceptibility to, 1 | | | | 2 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:85414 | Systemic-onset juvenile idiopathic arthritis | | | | 2 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | HLCS CL E G H | 3141 | 4976 | ORPHA:79242 | Holocarboxylase synthetase deficiency | | | | 148 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | IARS2 CL E G H | 55699 | 29685 | OMIM:616007 | Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia | | | | 25 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | ICOS CL E G H | 29851 | 5351 | OMIM:607594 | Immunodeficiency, common variable, 1 | | | | 32 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | ICOS CL E G H | 29851 | 5351 | OMIM:240500 | Immunodeficiency, common variable, 2 | | | | 32 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | IFNGR1 CL E G H | 3459 | 5439 | ORPHA:117 | Behçet disease | | | | 60 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | IGH CL E G H | 3492 | 5477 | ORPHA:52417 | MALT lymphoma | | | | 7 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | IGHM CL E G H | 3507 | 5541 | OMIM:601495 | Agammaglobulinemia 1, autosomal recessive | | | | 7 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | IGHM CL E G H | 3507 | 5541 | ORPHA:33110 | Autosomal agammaglobulinemia | | | | 7 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | IGLL1 CL E G H | 3543 | 5870 | ORPHA:33110 | Autosomal agammaglobulinemia | | | | 3 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | IGSF3 CL E G H | 3321 | 5950 | OMIM:149700 | Lacrimal duct defect | | | | 3 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | IKBKG CL E G H | 8517 | 5961 | OMIM:301081 | | | | | 52 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | IKBKG CL E G H | 8517 | 5961 | OMIM:308300 | Incontinentia pigmenti | | | | 52 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | IKBKG CL E G H | 8517 | 5961 | ORPHA:464 | Incontinentia pigmenti | | | | 52 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | IKZF1 CL E G H | 10320 | 13176 | ORPHA:36426 | Stevens-Johnson syndrome | | | | 8 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | IL10 CL E G H | 3586 | 5962 | ORPHA:117 | Behçet disease | | | | 2 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | IL12A CL E G H | 3592 | 5969 | ORPHA:117 | Behçet disease | | | | | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | IL12A-AS1 CL E G H | 101928376 | 49094 | ORPHA:117 | Behçet disease | | | | | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | IL12B CL E G H | 3593 | 5970 | ORPHA:3287 | Takayasu arteritis | HP:0040282 - Frequent | | | 31 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | IL23R CL E G H | 149233 | 19100 | ORPHA:117 | Behçet disease | | | | 1 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | IL2RA CL E G H | 3559 | 6008 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | | | | 65 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | IL2RA CL E G H | 3559 | 6008 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | 65 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | IL2RB CL E G H | 3560 | 6009 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | | | | | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | IL2RB CL E G H | 3560 | 6009 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | IL6 CL E G H | 3569 | 6018 | ORPHA:85414 | Systemic-onset juvenile idiopathic arthritis | | | | 2 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | IL6ST CL E G H | 3572 | 6021 | OMIM:618523 | HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B | | | | | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | IRF4 CL E G H | 3662 | 6119 | ORPHA:3452 | Whipple disease | | | | 1 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | KAT6A CL E G H | 7994 | 13013 | OMIM:616268 | Arboleda-Tham syndrome | | | | 34 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | KLRC4 CL E G H | 8302 | 6377 | ORPHA:117 | Behçet disease | | | | | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | LACC1 CL E G H | 144811 | 26789 | ORPHA:85414 | Systemic-onset juvenile idiopathic arthritis | | | | 1 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | LBR CL E G H | 3930 | 6518 | ORPHA:779 | Reynolds syndrome | | | | 70 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | LRBA CL E G H | 987 | 1742 | OMIM:614700 | IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8 | | | | 45 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | LRRC8A CL E G H | 56262 | 19027 | ORPHA:33110 | Autosomal agammaglobulinemia | | | | 3 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | MAB21L1 CL E G H | 4081 | 6757 | OMIM:618479 | Cerebellar, ocular, craniofacial, and genital syndrome | | | | | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | MALT1 CL E G H | 10892 | 6819 | ORPHA:52417 | MALT lymphoma | | | | 6 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:2273 | Ichthyosis follicularis-alopecia-photophobia syndrome | | | | 22 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:308205 | Ifap syndrome with or without bresheck syndrome | | | | 22 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:308800 | Keratosis follicularis spinulosa decalvans, X-linked | | | | 22 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:300918 | Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked | | | | 22 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | MEFV CL E G H | 4210 | 6998 | ORPHA:117 | Behçet disease | | | | 281 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | MIF CL E G H | 4282 | 7097 | ORPHA:85414 | Systemic-onset juvenile idiopathic arthritis | | | | 1 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | MLX CL E G H | 6945 | 11645 | ORPHA:3287 | Takayasu arteritis | HP:0040282 - Frequent | | | | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | MMP1 CL E G H | 4312 | 7155 | OMIM:226600 | Epidermolysis bullosa dystrophica, autosomal recessive | | | | 6 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | MPLKIP CL E G H | 136647 | 16002 | ORPHA:33364 | Trichothiodystrophy | | | | 9 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | MPLKIP CL E G H | 136647 | 16002 | OMIM:234050 | Trichothiodystrophy 4, nonphotosensitive | | | | 9 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | MSMO1 CL E G H | 6307 | 10545 | OMIM:616834 | Microcephaly, congenital cataract, and psoriasiform dermatitis | | | | 3 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | MST1 CL E G H | 4485 | 7380 | ORPHA:171 | Primary sclerosing cholangitis | | | | 1 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | MTTP CL E G H | 4547 | 7467 | ORPHA:14 | Abetalipoproteinemia | | | | 81 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:379 | Chronic granulomatous disease | HP:0040283 - Occasional | | | 13 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | NCF2 CL E G H | 4688 | 7661 | ORPHA:379 | Chronic granulomatous disease | HP:0040283 - Occasional | | | 67 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | NCF4 CL E G H | 4689 | 7662 | ORPHA:379 | Chronic granulomatous disease | HP:0040283 - Occasional | | | 37 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | NHP2 CL E G H | 55651 | 14377 | ORPHA:1775 | Dyskeratosis congenita | | | | 27 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | NIPAL4 CL E G H | 348938 | 28018 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | | | | 60 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | NIPBL CL E G H | 25836 | 28862 | ORPHA:199 | Cornelia de Lange syndrome | | | | 494 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | NLRP1 CL E G H | 22861 | 14374 | OMIM:617388 | AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK | | | | 37 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | NLRP3 CL E G H | 114548 | 16400 | ORPHA:1451 | CINCA syndrome | HP:0040281 - Very frequent | | | 217 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | NLRP3 CL E G H | 114548 | 16400 | OMIM:607115 | CINCA SYNDROME; CINCA | | | | 217 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | NLRP3 CL E G H | 114548 | 16400 | OMIM:617772 | Deafness, autosomal dominant 34, with or without inflammation | | | | 217 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | NLRP3 CL E G H | 114548 | 16400 | OMIM:120100 | FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1 | | | | 217 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | NLRP3 CL E G H | 114548 | 16400 | ORPHA:47045 | Familial cold urticaria | | | | 217 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | NLRP3 CL E G H | 114548 | 16400 | OMIM:148200 | Keratoendotheliitis fugax hereditaria | | | | 217 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | NLRP3 CL E G H | 114548 | 16400 | ORPHA:575 | Muckle-Wells syndrome | | | | 217 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | NLRP3 CL E G H | 114548 | 16400 | OMIM:191900 | Muckle-Wells syndrome | | | | 217 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | NOD2 CL E G H | 64127 | 5331 | OMIM:186580 | Blau syndrome | | | | 187 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | NOD2 CL E G H | 64127 | 5331 | ORPHA:90340 | Blau syndrome | | | | 187 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | NOD2 CL E G H | 64127 | 5331 | OMIM:617321 | YAO SYNDROME; YAOS | | | | 187 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | NOP10 CL E G H | 55505 | 14378 | ORPHA:1775 | Dyskeratosis congenita | | | | 17 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | NPM1 CL E G H | 4869 | 7910 | ORPHA:1775 | Dyskeratosis congenita | | | | 12 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | NTRK1 CL E G H | 4914 | 8031 | OMIM:256800 | Insensitivity to pain, congenital, with anhidrosis | | | | 97 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | PARN CL E G H | 5073 | 8609 | ORPHA:1775 | Dyskeratosis congenita | | | | 26 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | PAX1 CL E G H | 5075 | 8615 | OMIM:615560 | Otofaciocervical syndrome 2 | | | | 3 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | PAX6 CL E G H | 5080 | 8620 | ORPHA:2334 | Autosomal dominant keratitis | | | | 194 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | PAX6 CL E G H | 5080 | 8620 | OMIM:148190 | Keratitis, hereditary | | | | 194 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | PERCC1 CL E G H | 105371045 | 52293 | ORPHA:92050 | Congenital tufting enteropathy | | | | | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | PIGN CL E G H | 23556 | 8967 | ORPHA:280633 | Multiple congenital anomalies-hypotonia-seizures syndrome | | | | 37 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | PIK3R1 CL E G H | 5295 | 8979 | ORPHA:33110 | Autosomal agammaglobulinemia | | | | 43 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | PLCD1 CL E G H | 5333 | 9060 | ORPHA:2387 | Leukonychia totalis | | | | 5 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | PLEC CL E G H | 5339 | 9069 | OMIM:226670 | Epidermolysis bullosa simplex with muscular dystrophy | | | | 759 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | PLG CL E G H | 5340 | 9071 | OMIM:217090 | Plasminogen deficiency, type iligneous conjunctivitis, included | | | | 11 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | PLXND1 CL E G H | 23129 | 9107 | ORPHA:570 | Moebius syndrome | | | | | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | PNPLA1 CL E G H | 285848 | 21246 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | | | | 47 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | POLH CL E G H | 5429 | 9181 | ORPHA:90342 | Xeroderma pigmentosum variant | | | | 155 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | POLH CL E G H | 5429 | 9181 | OMIM:278750 | Xeroderma pigmentosum, Variant type | | | | 155 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 10 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | PRTN3 CL E G H | 5657 | 9495 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040282 - Frequent | | | | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | PSMB4 CL E G H | 5692 | 9541 | OMIM:617591 | Proteasome-Associated autoinflammatory syndrome 3 | | | | | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | PSMB8 CL E G H | 5696 | 9545 | OMIM:256040 | Proteasome-associated autoinflammatory syndrome 1 and digenic forms | | | | 20 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | PSMB9 CL E G H | 5698 | 9546 | OMIM:617591 | Proteasome-Associated autoinflammatory syndrome 3 | | | | | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | PTPN2 CL E G H | 5771 | 9650 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | | | | | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | PTPN2 CL E G H | 5771 | 9650 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040282 - Frequent | | | 3 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | | | | 3 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | 3 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | RAD21 CL E G H | 5885 | 9811 | ORPHA:199 | Cornelia de Lange syndrome | | | | 25 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | RAG1 CL E G H | 5896 | 9831 | OMIM:601457 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | | | 127 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | RAG2 CL E G H | 5897 | 9832 | OMIM:601457 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | | | 50 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | REV3L CL E G H | 5980 | 9968 | ORPHA:570 | Moebius syndrome | | | | 3 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | RNF113A CL E G H | 7737 | 12974 | ORPHA:33364 | Trichothiodystrophy | | | | 3 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | RNF125 CL E G H | 54941 | 21150 | OMIM:616260 | Tenorio syndrome | | | | 5 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | RTEL1 CL E G H | 51750 | 15888 | ORPHA:1775 | Dyskeratosis congenita | | | | 77 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | SAMD9 CL E G H | 54809 | 1348 | OMIM:610455 | Tumoral calcinosis, normophosphatemic, familial | | | | 8 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | SCN9A CL E G H | 6335 | 10597 | OMIM:133020 | Erythermalgia, primary | | | | 318 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | SEMA4D CL E G H | 10507 | 10732 | ORPHA:171 | Primary sclerosing cholangitis | | | | | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | SF3B1 CL E G H | 23451 | 10768 | ORPHA:39044 | Uveal melanoma | HP:0040284 - Very rare | | | 19 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | SLC29A3 CL E G H | 55315 | 23096 | OMIM:602782 | Histiocytosis-lymphadenopathy plus syndrome | | | | 68 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | SLC35C1 CL E G H | 55343 | 20197 | ORPHA:99843 | Leukocyte adhesion deficiency type II | | | | 71 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | SLC39A4 CL E G H | 55630 | 17129 | ORPHA:37 | Acrodermatitis enteropathica | | | | 55 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:199 | Cornelia de Lange syndrome | | | | 135 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | SMC3 CL E G H | 9126 | 2468 | ORPHA:199 | Cornelia de Lange syndrome | | | | 91 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | SREBF1 CL E G H | 6720 | 11289 | OMIM:619016 | IFAP SYNDROME 2; IFAP2 | | | | 1 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | SREBF1 CL E G H | 6720 | 11289 | OMIM:158310 | Mucoepithelial dysplasia, hereditary | | | | 1 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | ST14 CL E G H | 6768 | 11344 | OMIM:602400 | Ichthyosis, congenital, autosomal recessive 11 | | | | 4 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | STAT4 CL E G H | 6775 | 11365 | ORPHA:117 | Behçet disease | | | | 2 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | STAT4 CL E G H | 6775 | 11365 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | | | | 2 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | STAT4 CL E G H | 6775 | 11365 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | 2 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | STUB1 CL E G H | 10273 | 11427 | ORPHA:412057 | Autosomal recessive cerebellar ataxia due to STUB1 deficiency | | | | 14 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | STX11 CL E G H | 8676 | 11429 | OMIM:603552 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4 | | | | 85 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | STX16 CL E G H | 8675 | 11431 | ORPHA:94089 | Pseudohypoparathyroidism type 1B | | | | 86 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | TARS1 CL E G H | 6897 | 11572 | ORPHA:33364 | Trichothiodystrophy | | | | | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | TBX4 CL E G H | 9496 | 11603 | ORPHA:261279 | 17q23.1q23.2 microdeletion syndrome | | | | 55 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | TCF3 CL E G H | 6929 | 11633 | ORPHA:33110 | Autosomal agammaglobulinemia | | | | 2 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | TCF4 CL E G H | 6925 | 11634 | ORPHA:171 | Primary sclerosing cholangitis | | | | 241 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | TERC CL E G H | 7012 | 11727 | ORPHA:1775 | Dyskeratosis congenita | | | | 48 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:1775 | Dyskeratosis congenita | | | | 238 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | TFRC CL E G H | 7037 | 11763 | OMIM:616740 | Immunodeficiency 46 | | | | 1 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | TGM1 CL E G H | 7051 | 11777 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | | | | 98 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | TINF2 CL E G H | 26277 | 11824 | ORPHA:1775 | Dyskeratosis congenita | | | | 60 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | TKT CL E G H | 7086 | 11834 | OMIM:617044 | Short stature, developmental delay, and congenital heart defects | | | | 4 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | TKT CL E G H | 7086 | 11834 | ORPHA:488618 | Transketolase deficiency | | | | 4 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | TLR4 CL E G H | 7099 | 11850 | ORPHA:117 | Behçet disease | | | | 3 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | TNFAIP3 CL E G H | 7128 | 11896 | OMIM:616744 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL | | | | 26 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | TNFRSF13B CL E G H | 23495 | 18153 | OMIM:240500 | Immunodeficiency, common variable, 2 | | | | 32 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | TNFRSF13C CL E G H | 115650 | 17755 | OMIM:240500 | Immunodeficiency, common variable, 2 | | | | 12 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | TNFRSF1A CL E G H | 7132 | 11916 | OMIM:142680 | Periodic fever, familial, autosomal dominant | | | | 131 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | TNFRSF1A CL E G H | 7132 | 11916 | ORPHA:32960 | Tumor necrosis factor receptor 1 associated periodic syndrome | | | | 131 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:103285 | Adult syndrome | | | | 140 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:106260 | Ankyloblepharon-Ectodermal defects-cleft lip/palate | | | | 140 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:604292 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | | | | 140 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | TP63 CL E G H | 8626 | 15979 | ORPHA:1896 | EEC syndrome | HP:0040282 - Frequent | | | 140 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | TP63 CL E G H | 8626 | 15979 | ORPHA:69085 | Limb-mammary syndrome | | | | 140 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | TRAF3IP2 CL E G H | 10758 | 1343 | OMIM:615527 | Candidiasis, familial, 8 | | | | 4 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | TYMS CL E G H | 7298 | 12441 | ORPHA:1775 | Dyskeratosis congenita | | | | 1 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | UBAC2 CL E G H | 337867 | 20486 | ORPHA:117 | Behçet disease | | | | | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | UROD CL E G H | 7389 | 12591 | ORPHA:95159 | Hepatoerythropoietic porphyria | | | | 31 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | UROS CL E G H | 7390 | 12592 | ORPHA:79277 | Congenital erythropoietic porphyria | | | | 41 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | UROS CL E G H | 7390 | 12592 | OMIM:263700 | Porphyria, congenital erythropoietic | | | | 41 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | USB1 CL E G H | 79650 | 25792 | ORPHA:1775 | Dyskeratosis congenita | | | | 8 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | USB1 CL E G H | 79650 | 25792 | OMIM:604173 | Poikiloderma with neutropenia | | | | 8 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | VPS33A CL E G H | 65082 | 18179 | ORPHA:505248 | Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders | | | | 1 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | WAS CL E G H | 7454 | 12731 | ORPHA:906 | Wiskott-Aldrich syndrome | | | | 65 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | WIPF1 CL E G H | 7456 | 12736 | ORPHA:906 | Wiskott-Aldrich syndrome | | | | 6 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | WRAP53 CL E G H | 55135 | 25522 | ORPHA:1775 | Dyskeratosis congenita | | | | 40 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | XPA CL E G H | 7507 | 12814 | ORPHA:910 | Xeroderma pigmentosum | | | | 34 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | XPA CL E G H | 7507 | 12814 | OMIM:278700 | Xeroderma pigmentosum, complementation group A | | | | 34 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | XPC CL E G H | 7508 | 12816 | ORPHA:910 | Xeroderma pigmentosum | | | | 86 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | XPC CL E G H | 7508 | 12816 | OMIM:278720 | Xeroderma pigmentosum, complementation group C | | | | 86 | | |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | ZEB1 CL E G H | 6935 | 11642 | OMIM:613270 | Corneal dystrophy, fuchs endothelial, 6 | | | | 8 | | |
HP:0100533 | HP:0034427 | Purulent eye discharge | 1 | CL E G H | | | | | | | | | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | ABCA12 CL E G H | 26154 | 14637 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | HP:0040282 - Frequent | | | 130 | | |
HP:0100533 | HP:0000498 | Blepharitis | 1 | ADAM17 CL E G H | 6868 | 195 | OMIM:614328 | INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1 | | | | 2 | | |
HP:0100533 | HP:0000498 | Blepharitis | 1 | ADAM17 CL E G H | 6868 | 195 | ORPHA:294023 | Neonatal inflammatory skin and bowel disease | HP:0040282 - Frequent | | | 2 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | AEBP1 CL E G H | 165 | 303 | ORPHA:536532 | Classical-like Ehlers-Danlos syndrome type 2 | | | | | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | AEBP1 CL E G H | 165 | 303 | ORPHA:536532 | Classical-like Ehlers-Danlos syndrome type 2 | | | | | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | AIRE CL E G H | 326 | 360 | OMIM:240300 | AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1 | | | | 92 | | |
HP:0100533 | HP:0000554 | 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:0100533 | HP:0000491 | Keratitis | 1 | AIRE CL E G H | 326 | 360 | OMIM:240300 | AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1 | | | | 92 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | ALOX12B CL E G H | 242 | 430 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | HP:0040282 - Frequent | | | 75 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | ALOXE3 CL E G H | 59344 | 13743 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | HP:0040282 - Frequent | | | 63 | | |
HP:0100533 | HP:0000554 | Uveitis | 1 | ANKRD55 CL E G H | 79722 | 25681 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | HP:0040282 - Frequent | | | | | |
HP:0100533 | HP:0000554 | Uveitis | 1 | ANKRD55 CL E G H | 79722 | 25681 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | AP1B1 CL E G H | 162 | 554 | OMIM:242150 | Ichthyosiform erythroderma, corneal involvement, and deafness | . | | | | | |
HP:0100533 | HP:0000498 | Blepharitis | 1 | APOE CL E G H | 348 | 613 | ORPHA:158029 | Sea-blue histiocytosis | HP:0040281 - Very frequent | | | 39 | | |
HP:0100533 | HP:0000498 | Blepharitis | 1 | ARPC1B CL E G H | 10095 | 704 | OMIM:617718 | Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease | | | | | | |
HP:0100533 | HP:0000554 | Uveitis | 1 | ATOH7 CL E G H | 220202 | 13907 | OMIM:221900 | Persistent hyperplastic primary vitreous, autosomal recessive | HP:0040283 - Occasional | | | 4 | | |
HP:0100533 | HP:0000554 | Uveitis | 1 | BCL10 CL E G H | 8915 | 989 | ORPHA:52417 | MALT lymphoma | | | | 18 | | |
HP:0100533 | HP:0000554 | Uveitis | 1 | BIRC3 CL E G H | 330 | 591 | ORPHA:52417 | MALT lymphoma | | | | | | |
HP:0100533 | HP:0000554 | Uveitis | 1 | BLM CL E G H | 641 | 1058 | ORPHA:125 | Bloom syndrome | HP:0040283 - Occasional | | | 314 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | BLNK CL E G H | 29760 | 14211 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 4 | | |
HP:0100533 | HP:0000498 | Blepharitis | 1 | BRD4 CL E G H | 23476 | 13575 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | BTD CL E G H | 686 | 1122 | ORPHA:79241 | Biotinidase deficiency | HP:0040283 - Occasional | | | 223 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | BTD CL E G H | 686 | 1122 | OMIM:253260 | Biotinidase deficiencymultiple carboxylase deficiency, late-onset | . | | | 223 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | BTK CL E G H | 695 | 1133 | OMIM:300755 | Agammaglobulinemia, X-linked | . | | | 109 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | BTK CL E G H | 695 | 1133 | OMIM:307200 | Isolated growth hormone deficiency, type III, with agammaglobulinemia | | | | 109 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | BTK CL E G H | 695 | 1133 | ORPHA:47 | X-linked agammaglobulinemia | HP:0040281 - Very frequent | | | 109 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | BTNL2 CL E G H | 56244 | 1142 | ORPHA:797 | Sarcoidosis | | | | 1 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | BTNL2 CL E G H | 56244 | 1142 | ORPHA:797 | Sarcoidosis | | | | 1 | | |
HP:0100533 | HP:0000554 | Uveitis | 1 | BTNL2 CL E G H | 56244 | 1142 | ORPHA:797 | Sarcoidosis | HP:0040282 - Frequent | | | 1 | | |
HP:0100533 | HP:0000554 | Uveitis | 1 | BTNL2 CL E G H | 56244 | 1142 | OMIM:612387 | Sarcoidosis, susceptibility to, 2 | . | | | 1 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | C4A CL E G H | 720 | 1323 | ORPHA:117 | Behçet disease | | | | 1 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | C4A CL E G H | 720 | 1323 | ORPHA:117 | Behçet disease | | | | 1 | | |
HP:0100533 | HP:0000554 | Uveitis | 1 | CAPN5 CL E G H | 726 | 1482 | OMIM:193235 | Vitreoretinopathy, neovascular inflammatory | . | | | 6 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | CARS1 CL E G H | 833 | 1493 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | CARS1 CL E G H | 833 | 1493 | ORPHA:33364 | Trichothiodystrophy | | | | | | |
HP:0100533 | HP:0000554 | Uveitis | 1 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040284 - Very rare | | | 87 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | CCR1 CL E G H | 1230 | 1602 | ORPHA:117 | Behçet disease | | | | | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | CCR1 CL E G H | 1230 | 1602 | ORPHA:117 | Behçet disease | | | | | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | CD19 CL E G H | 930 | 1633 | OMIM:240500 | Immunodeficiency, common variable, 2 | . | | | 38 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | CD19 CL E G H | 930 | 1633 | OMIM:613493 | IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3 | | | | 38 | | |
HP:0100533 | HP:0000554 | Uveitis | 1 | CD247 CL E G H | 919 | 1677 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | HP:0040282 - Frequent | | | 8 | | |
HP:0100533 | HP:0000554 | Uveitis | 1 | CD247 CL E G H | 919 | 1677 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 8 | | |
HP:0100533 | HP:0000554 | Uveitis | 1 | CD27 CL E G H | 939 | 11922 | OMIM:615122 | Lymphoproliferative syndrome 2 | | | | 4 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | CD79A CL E G H | 973 | 1698 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 9 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | CD79B CL E G H | 974 | 1699 | OMIM:612692 | Agammaglobulinemia 6, autosomal recessive | . | | | 6 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | CD79B CL E G H | 974 | 1699 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 6 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | CERS3 CL E G H | 204219 | 23752 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | HP:0040282 - Frequent | | | 5 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | CLTCL1 CL E G H | 8218 | 2093 | ORPHA:453510 | Congenital insensitivity to pain with severe intellectual disability | HP:0040282 - Frequent | | | 6 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | COL17A1 CL E G H | 1308 | 2194 | ORPHA:293381 | Epithelial recurrent erosion dystrophy | | | | 129 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | COL17A1 CL E G H | 1308 | 2194 | ORPHA:293381 | Epithelial recurrent erosion dystrophy | | | | 129 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | COL4A5 CL E G H | 1287 | 2207 | ORPHA:1018 | X-linked Alport syndrome-diffuse leiomyomatosis | HP:0040283 - Occasional | | | 678 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | COL4A6 CL E G H | 1288 | 2208 | ORPHA:1018 | X-linked Alport syndrome-diffuse leiomyomatosis | HP:0040283 - Occasional | | | 18 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | COL7A1 CL E G H | 1294 | 2214 | OMIM:226600 | Epidermolysis bullosa dystrophica, autosomal recessive | . | | | 263 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | CR2 CL E G H | 1380 | 2336 | OMIM:240500 | Immunodeficiency, common variable, 2 | . | | | 10 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | CRLF1 CL E G H | 9244 | 2364 | OMIM:272430 | Crisponi/cold-induced sweating syndrome 1 | . | | | 24 | | |
HP:0100533 | HP:0000498 | Blepharitis | 1 | CST6 CL E G H | 1474 | 2478 | OMIM:618535 | Ectodermal dysplasia 15, Hypohidrotic/hair type | . | | | | | |
HP:0100533 | HP:0000498 | Blepharitis | 1 | CTC1 CL E G H | 80169 | 26169 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 160 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | DDB2 CL E G H | 1643 | 2718 | ORPHA:910 | Xeroderma pigmentosum | HP:0040282 - Frequent | | | 30 | | |
HP:0100533 | HP:0000498 | Blepharitis | 1 | DDB2 CL E G H | 1643 | 2718 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 30 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | DDB2 CL E G H | 1643 | 2718 | OMIM:278740 | Xeroderma pigmentosum, complementation group E | . | | | 30 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | DDB2 CL E G H | 1643 | 2718 | OMIM:278740 | Xeroderma pigmentosum, complementation group E | . | | | 30 | | |
HP:0100533 | HP:0000498 | Blepharitis | 1 | DKC1 CL E G H | 1736 | 2890 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 65 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | DKC1 CL E G H | 1736 | 2890 | OMIM:305000 | Dyskeratosis congenita, X-linked | . | | | 65 | | |
HP:0100533 | HP:0000498 | Blepharitis | 1 | DKC1 CL E G H | 1736 | 2890 | OMIM:305000 | Dyskeratosis congenita, X-linked | . | | | 65 | | |
HP:0100533 | HP:0100534 | Episcleritis | 1 | DNASE1L3 CL E G H | 1776 | 2959 | ORPHA:36412 | Hypocomplementemic urticarial vasculitis | HP:0040282 - Frequent | | | 3 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | DNASE1L3 CL E G H | 1776 | 2959 | ORPHA:36412 | Hypocomplementemic urticarial vasculitis | HP:0040282 - Frequent | | | 3 | | |
HP:0100533 | HP:0000554 | Uveitis | 1 | DNASE1L3 CL E G H | 1776 | 2959 | ORPHA:36412 | Hypocomplementemic urticarial vasculitis | HP:0040282 - Frequent | | | 3 | | |
HP:0100533 | HP:0000498 | Blepharitis | 1 | EGFR CL E G H | 1956 | 3236 | ORPHA:294023 | Neonatal inflammatory skin and bowel disease | HP:0040282 - Frequent | | | 257 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | EPCAM CL E G H | 4072 | 11529 | ORPHA:92050 | Congenital tufting enteropathy | | | | 170 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | ERAP1 CL E G H | 51752 | 18173 | ORPHA:117 | Behçet disease | | | | 1 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | ERAP1 CL E G H | 51752 | 18173 | ORPHA:117 | Behçet disease | | | | 1 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | ERCC1 CL E G H | 2067 | 3433 | ORPHA:90322 | Cockayne syndrome type 2 | HP:0040283 - Occasional | | | 20 | | |
HP:0100533 | HP:0000554 | Uveitis | 1 | ERCC1 CL E G H | 2067 | 3433 | ORPHA:90322 | Cockayne syndrome type 2 | HP:0040283 - Occasional | | | 20 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 106 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:33364 | Trichothiodystrophy | | | | 106 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | ERCC2 CL E G H | 2068 | 3434 | OMIM:601675 | Trichothiodystrophy 1, photosensitive | | | | 106 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | ERCC2 CL E G H | 2068 | 3434 | OMIM:601675 | Trichothiodystrophy 1, photosensitive | | | | 106 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:910 | Xeroderma pigmentosum | HP:0040282 - Frequent | | | 106 | | |
HP:0100533 | HP:0000498 | Blepharitis | 1 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 106 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | ERCC2 CL E G H | 2068 | 3434 | OMIM:278730 | Xeroderma pigmentosum, complementation group D | . | | | 106 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | ERCC2 CL E G H | 2068 | 3434 | OMIM:278730 | Xeroderma pigmentosum, complementation group D | . | | | 106 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:33364 | Trichothiodystrophy | | | | 54 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 54 | | |
HP:0100533 | HP:0000498 | Blepharitis | 1 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 54 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:910 | Xeroderma pigmentosum | HP:0040282 - Frequent | | | 54 | | |
HP:0100533 | HP:0000554 | Uveitis | 1 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040283 - Occasional | | | 158 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040283 - Occasional | | | 158 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:910 | Xeroderma pigmentosum | HP:0040282 - Frequent | | | 158 | | |
HP:0100533 | HP:0000498 | Blepharitis | 1 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 158 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | ERCC5 CL E G H | 2073 | 3437 | ORPHA:910 | Xeroderma pigmentosum | HP:0040282 - Frequent | | | 83 | | |
HP:0100533 | HP:0000498 | Blepharitis | 1 | ERCC5 CL E G H | 2073 | 3437 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 83 | | |
HP:0100533 | HP:0000554 | Uveitis | 1 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040283 - Occasional | | | 199 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040283 - Occasional | | | 199 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90322 | Cockayne syndrome type 2 | HP:0040283 - Occasional | | | 199 | | |
HP:0100533 | HP:0000554 | Uveitis | 1 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90322 | Cockayne syndrome type 2 | HP:0040283 - Occasional | | | 199 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90324 | Cockayne syndrome type 3 | | | | 199 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90324 | Cockayne syndrome type 3 | | | | 199 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | ERCC6 CL E G H | 2074 | 3438 | OMIM:278800 | De Sanctis-Cacchione syndrome | . | | | 199 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | ERCC6 CL E G H | 2074 | 3438 | OMIM:278800 | De Sanctis-Cacchione syndrome | . | | | 199 | | |
HP:0100533 | HP:0000554 | Uveitis | 1 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040283 - Occasional | | | 55 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040283 - Occasional | | | 55 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90322 | Cockayne syndrome type 2 | HP:0040283 - Occasional | | | 55 | | |
HP:0100533 | HP:0000554 | Uveitis | 1 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90322 | Cockayne syndrome type 2 | HP:0040283 - Occasional | | | 55 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90324 | Cockayne syndrome type 3 | | | | 55 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90324 | Cockayne syndrome type 3 | | | | 55 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | ERF CL E G H | 2077 | 3444 | ORPHA:207 | Crouzon disease | HP:0040282 - Frequent | | | 12 | | |
HP:0100533 | HP:0000554 | Uveitis | 1 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040284 - Very rare | | | 59 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | FAS CL E G H | 355 | 11920 | ORPHA:117 | Behçet disease | | | | 59 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | FAS CL E G H | 355 | 11920 | ORPHA:117 | Behçet disease | | | | 59 | | |
HP:0100533 | HP:0000554 | Uveitis | 1 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040284 - Very rare | | | 37 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | FBN1 CL E G H | 2200 | 3603 | OMIM:616914 | Marfan lipodystrophy syndrome | | | | 1361 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | FBN1 CL E G H | 2200 | 3603 | OMIM:616914 | Marfan lipodystrophy syndrome | | | | 1361 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | FERMT1 CL E G H | 55612 | 15889 | ORPHA:2908 | Kindler epidermolysis bullosa | HP:0040283 - Occasional | | | 136 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | FGF10 CL E G H | 2255 | 3666 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | | | | 17 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | FGF10 CL E G H | 2255 | 3666 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | | | | 17 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:207 | Crouzon disease | HP:0040282 - Frequent | | | 175 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | FGFR2 CL E G H | 2263 | 3689 | OMIM:123500 | Crouzon syndrome | . | | | 175 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | FGFR2 CL E G H | 2263 | 3689 | OMIM:123500 | Crouzon syndrome | . | | | 175 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | | | | 175 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | | | | 175 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | | | | 145 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | | | | 145 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | FOXC2 CL E G H | 2303 | 3801 | OMIM:153400 | Lymphedema-Distichiasis syndrome | . | | | 20 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | FOXC2 CL E G H | 2303 | 3801 | ORPHA:33001 | Lymphedema-distichiasis syndrome | HP:0040281 - Very frequent | | | 20 | | |
HP:0100533 | HP:0000554 | Uveitis | 1 | FOXP1 CL E G H | 27086 | 3823 | ORPHA:52417 | MALT lymphoma | | | | 184 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | GATA1 CL E G H | 2623 | 4170 | ORPHA:79277 | Congenital erythropoietic porphyria | | | | 29 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | GATA1 CL E G H | 2623 | 4170 | ORPHA:79277 | Congenital erythropoietic porphyria | | | | 29 | | |
HP:0100533 | HP:0100532 | Scleritis | 1 | GATA1 CL E G H | 2623 | 4170 | ORPHA:79277 | Congenital erythropoietic porphyria | HP:0040284 - Very rare | | | 29 | | |
HP:0100533 | HP:0000498 | Blepharitis | 1 | GATA1 CL E G H | 2623 | 4170 | ORPHA:79277 | Congenital erythropoietic porphyria | | | | 29 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | GJB2 CL E G H | 2706 | 4284 | OMIM:602540 | Ichthyosis, hystrix-like, with deafness | | | | 199 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | GJB2 CL E G H | 2706 | 4284 | OMIM:148210 | Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant | | | | 199 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | GJB2 CL E G H | 2706 | 4284 | OMIM:148210 | Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant | | | | 199 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | GJB2 CL E G H | 2706 | 4284 | ORPHA:477 | KID syndrome | | | | 199 | | |
HP:0100533 | HP:0000498 | Blepharitis | 1 | GJB2 CL E G H | 2706 | 4284 | ORPHA:477 | KID syndrome | | | | 199 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | GJB2 CL E G H | 2706 | 4284 | ORPHA:477 | KID syndrome | HP:0040281 - Very frequent | | | 199 | | |
HP:0100533 | HP:0000498 | Blepharitis | 1 | GJB6 CL E G H | 10804 | 4288 | OMIM:129500 | Clouston syndrome | . | | | 56 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | GJB6 CL E G H | 10804 | 4288 | OMIM:129500 | Clouston syndrome | . | | | 56 | | |
HP:0100533 | HP:0000498 | Blepharitis | 1 | GJB6 CL E G H | 10804 | 4288 | ORPHA:477 | KID syndrome | | | | 56 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | GJB6 CL E G H | 10804 | 4288 | ORPHA:477 | KID syndrome | | | | 56 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | GJB6 CL E G H | 10804 | 4288 | ORPHA:477 | KID syndrome | HP:0040281 - Very frequent | | | 56 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | GNAS CL E G H | 2778 | 4392 | ORPHA:79443 | Pseudohypoparathyroidism type 1A | HP:0040283 - Occasional | | | 101 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | GNAS CL E G H | 2778 | 4392 | ORPHA:94089 | Pseudohypoparathyroidism type 1B | HP:0040283 - Occasional | | | 101 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | GNAS CL E G H | 2778 | 4392 | ORPHA:79444 | Pseudohypoparathyroidism type 1C | HP:0040283 - Occasional | | | 101 | | |
HP:0100533 | HP:0000554 | Uveitis | 1 | GPR35 CL E G H | 2859 | 4492 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040284 - Very rare | | | 2 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | GSN CL E G H | 2934 | 4620 | ORPHA:85448 | AGel amyloidosis | | | | 53 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | GSN CL E G H | 2934 | 4620 | ORPHA:85448 | AGel amyloidosis | | | | 53 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | GTF2E2 CL E G H | 2961 | 4651 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 2 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | GTF2E2 CL E G H | 2961 | 4651 | ORPHA:33364 | Trichothiodystrophy | | | | 2 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | GTF2H5 CL E G H | 404672 | 21157 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | GTF2H5 CL E G H | 404672 | 21157 | ORPHA:33364 | Trichothiodystrophy | | | | 3 | | |
HP:0100533 | HP:0000498 | Blepharitis | 1 | HDAC8 CL E G H | 55869 | 13315 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 37 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | HLA-B CL E G H | 3106 | 4932 | ORPHA:117 | Behçet disease | | | | 4 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | HLA-B CL E G H | 3106 | 4932 | ORPHA:117 | Behçet disease | | | | 4 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | HLA-B CL E G H | 3106 | 4932 | ORPHA:29207 | Reactive arthritis | HP:0040281 - Very frequent | | | 4 | | |
HP:0100533 | HP:0000554 | Uveitis | 1 | HLA-B CL E G H | 3106 | 4932 | OMIM:106300 | Spondyloarthropathy, susceptibility to, 1 | | | | 4 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | HLA-B CL E G H | 3106 | 4932 | ORPHA:36426 | Stevens-Johnson syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0100533 | HP:0000554 | Uveitis | 1 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:797 | Sarcoidosis | HP:0040282 - Frequent | | | 2 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:797 | Sarcoidosis | | | | 2 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:797 | Sarcoidosis | | | | 2 | | |
HP:0100533 | HP:0000554 | Uveitis | 1 | HLA-DRB1 CL E G H | 3123 | 4948 | OMIM:181000 | Sarcoidosis, susceptibility to, 1 | . | | | 2 | | |
HP:0100533 | HP:0000554 | Uveitis | 1 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:85414 | Systemic-onset juvenile idiopathic arthritis | | | | 2 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | HLCS CL E G H | 3141 | 4976 | ORPHA:79242 | Holocarboxylase synthetase deficiency | | | | 148 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | HLCS CL E G H | 3141 | 4976 | ORPHA:79242 | Holocarboxylase synthetase deficiency | | | | 148 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | IARS2 CL E G H | 55699 | 29685 | OMIM:616007 | Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia | | | | 25 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | IARS2 CL E G H | 55699 | 29685 | OMIM:616007 | Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia | | | | 25 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | ICOS CL E G H | 29851 | 5351 | OMIM:607594 | Immunodeficiency, common variable, 1 | . | | | 32 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | ICOS CL E G H | 29851 | 5351 | OMIM:240500 | Immunodeficiency, common variable, 2 | . | | | 32 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | IFNGR1 CL E G H | 3459 | 5439 | ORPHA:117 | Behçet disease | | | | 60 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | IFNGR1 CL E G H | 3459 | 5439 | ORPHA:117 | Behçet disease | | | | 60 | | |
HP:0100533 | HP:0000554 | Uveitis | 1 | IGH CL E G H | 3492 | 5477 | ORPHA:52417 | MALT lymphoma | | | | 7 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | IGHM CL E G H | 3507 | 5541 | OMIM:601495 | Agammaglobulinemia 1, autosomal recessive | . | | | 7 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | IGHM CL E G H | 3507 | 5541 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 7 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | IGLL1 CL E G H | 3543 | 5870 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 3 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | IGSF3 CL E G H | 3321 | 5950 | OMIM:149700 | Lacrimal duct defect | HP:0040283 - Occasional | | | 3 | | |
HP:0100533 | HP:0000554 | Uveitis | 1 | IKBKG CL E G H | 8517 | 5961 | OMIM:301081 | | | | | 52 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | IKBKG CL E G H | 8517 | 5961 | OMIM:308300 | Incontinentia pigmenti | . | | | 52 | | |
HP:0100533 | HP:0000554 | Uveitis | 1 | IKBKG CL E G H | 8517 | 5961 | OMIM:308300 | Incontinentia pigmenti | . | | | 52 | | |
HP:0100533 | HP:0000554 | Uveitis | 1 | IKBKG CL E G H | 8517 | 5961 | ORPHA:464 | Incontinentia pigmenti | HP:0040283 - Occasional | | | 52 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | IKBKG CL E G H | 8517 | 5961 | ORPHA:464 | Incontinentia pigmenti | HP:0040283 - Occasional | | | 52 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | IKZF1 CL E G H | 10320 | 13176 | ORPHA:36426 | Stevens-Johnson syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | IL10 CL E G H | 3586 | 5962 | ORPHA:117 | Behçet disease | | | | 2 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | IL10 CL E G H | 3586 | 5962 | ORPHA:117 | Behçet disease | | | | 2 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | IL12A CL E G H | 3592 | 5969 | ORPHA:117 | Behçet disease | | | | | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | IL12A CL E G H | 3592 | 5969 | ORPHA:117 | Behçet disease | | | | | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | IL12A-AS1 CL E G H | 101928376 | 49094 | ORPHA:117 | Behçet disease | | | | | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | IL12A-AS1 CL E G H | 101928376 | 49094 | ORPHA:117 | Behçet disease | | | | | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | IL23R CL E G H | 149233 | 19100 | ORPHA:117 | Behçet disease | | | | 1 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | IL23R CL E G H | 149233 | 19100 | ORPHA:117 | Behçet disease | | | | 1 | | |
HP:0100533 | HP:0000554 | Uveitis | 1 | IL2RA CL E G H | 3559 | 6008 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | HP:0040282 - Frequent | | | 65 | | |
HP:0100533 | HP:0000554 | Uveitis | 1 | IL2RA CL E G H | 3559 | 6008 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 65 | | |
HP:0100533 | HP:0000554 | Uveitis | 1 | IL2RB CL E G H | 3560 | 6009 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | HP:0040282 - Frequent | | | | | |
HP:0100533 | HP:0000554 | Uveitis | 1 | IL2RB CL E G H | 3560 | 6009 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | | | |
HP:0100533 | HP:0000554 | Uveitis | 1 | IL6 CL E G H | 3569 | 6018 | ORPHA:85414 | Systemic-onset juvenile idiopathic arthritis | | | | 2 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | IL6ST CL E G H | 3572 | 6021 | OMIM:618523 | HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B | | | | | | |
HP:0100533 | HP:0000554 | Uveitis | 1 | IRF4 CL E G H | 3662 | 6119 | ORPHA:3452 | Whipple disease | HP:0040282 - Frequent | | | 1 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | KAT6A CL E G H | 7994 | 13013 | OMIM:616268 | Arboleda-Tham syndrome | | | | 34 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | KLRC4 CL E G H | 8302 | 6377 | ORPHA:117 | Behçet disease | | | | | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | KLRC4 CL E G H | 8302 | 6377 | ORPHA:117 | Behçet disease | | | | | | |
HP:0100533 | HP:0000554 | Uveitis | 1 | LACC1 CL E G H | 144811 | 26789 | ORPHA:85414 | Systemic-onset juvenile idiopathic arthritis | | | | 1 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | LBR CL E G H | 3930 | 6518 | ORPHA:779 | Reynolds syndrome | | | | 70 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | LBR CL E G H | 3930 | 6518 | ORPHA:779 | Reynolds syndrome | | | | 70 | | |
HP:0100533 | HP:0000554 | Uveitis | 1 | LRBA CL E G H | 987 | 1742 | OMIM:614700 | IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8 | | | | 45 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | LRBA CL E G H | 987 | 1742 | OMIM:614700 | IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8 | | | | 45 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | LRRC8A CL E G H | 56262 | 19027 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 3 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | MAB21L1 CL E G H | 4081 | 6757 | OMIM:618479 | Cerebellar, ocular, craniofacial, and genital syndrome | | | | | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | MAB21L1 CL E G H | 4081 | 6757 | OMIM:618479 | Cerebellar, ocular, craniofacial, and genital syndrome | | | | | | |
HP:0100533 | HP:0000554 | Uveitis | 1 | MALT1 CL E G H | 10892 | 6819 | ORPHA:52417 | MALT lymphoma | | | | 6 | | |
HP:0100533 | HP:0100534 | Episcleritis | 1 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:2273 | Ichthyosis follicularis-alopecia-photophobia syndrome | HP:0040283 - Occasional | | | 22 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:2273 | Ichthyosis follicularis-alopecia-photophobia syndrome | HP:0040283 - Occasional | | | 22 | | |
HP:0100533 | HP:0000554 | Uveitis | 1 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:2273 | Ichthyosis follicularis-alopecia-photophobia syndrome | HP:0040283 - Occasional | | | 22 | | |
HP:0100533 | HP:0100532 | Scleritis | 1 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:2273 | Ichthyosis follicularis-alopecia-photophobia syndrome | HP:0040283 - Occasional | | | 22 | | |
HP:0100533 | HP:0000498 | Blepharitis | 1 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:2273 | Ichthyosis follicularis-alopecia-photophobia syndrome | HP:0040283 - Occasional | | | 22 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:2273 | Ichthyosis follicularis-alopecia-photophobia syndrome | HP:0040283 - Occasional | | | 22 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:308205 | Ifap syndrome with or without bresheck syndrome | . | | | 22 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:308800 | Keratosis follicularis spinulosa decalvans, X-linked | . | | | 22 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:308800 | Keratosis follicularis spinulosa decalvans, X-linked | . | | | 22 | | |
HP:0100533 | HP:0000498 | Blepharitis | 1 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:308800 | Keratosis follicularis spinulosa decalvans, X-linked | . | | | 22 | | |
HP:0100533 | HP:0000498 | Blepharitis | 1 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:300918 | Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked | . | | | 22 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | MEFV CL E G H | 4210 | 6998 | ORPHA:117 | Behçet disease | | | | 281 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | MEFV CL E G H | 4210 | 6998 | ORPHA:117 | Behçet disease | | | | 281 | | |
HP:0100533 | HP:0000554 | Uveitis | 1 | MIF CL E G H | 4282 | 7097 | ORPHA:85414 | Systemic-onset juvenile idiopathic arthritis | | | | 1 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | MMP1 CL E G H | 4312 | 7155 | OMIM:226600 | Epidermolysis bullosa dystrophica, autosomal recessive | . | | | 6 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | MPLKIP CL E G H | 136647 | 16002 | ORPHA:33364 | Trichothiodystrophy | | | | 9 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | MPLKIP CL E G H | 136647 | 16002 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 9 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | MPLKIP CL E G H | 136647 | 16002 | OMIM:234050 | Trichothiodystrophy 4, nonphotosensitive | | | | 9 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | MPLKIP CL E G H | 136647 | 16002 | OMIM:234050 | Trichothiodystrophy 4, nonphotosensitive | | | | 9 | | |
HP:0100533 | HP:0000498 | Blepharitis | 1 | MSMO1 CL E G H | 6307 | 10545 | OMIM:616834 | Microcephaly, congenital cataract, and psoriasiform dermatitis | . | | | 3 | | |
HP:0100533 | HP:0000554 | Uveitis | 1 | MST1 CL E G H | 4485 | 7380 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040284 - Very rare | | | 1 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | MTTP CL E G H | 4547 | 7467 | ORPHA:14 | Abetalipoproteinemia | | | | 81 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | MTTP CL E G H | 4547 | 7467 | ORPHA:14 | Abetalipoproteinemia | | | | 81 | | |
HP:0100533 | HP:0000498 | Blepharitis | 1 | NHP2 CL E G H | 55651 | 14377 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 27 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | NIPAL4 CL E G H | 348938 | 28018 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | HP:0040282 - Frequent | | | 60 | | |
HP:0100533 | HP:0000498 | Blepharitis | 1 | NIPBL CL E G H | 25836 | 28862 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 494 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | NLRP1 CL E G H | 22861 | 14374 | OMIM:617388 | AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK | | | | 37 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | NLRP1 CL E G H | 22861 | 14374 | OMIM:617388 | AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK | | | | 37 | | |
HP:0100533 | HP:0000554 | Uveitis | 1 | NLRP1 CL E G H | 22861 | 14374 | OMIM:617388 | AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK | | | | 37 | | |
HP:0100533 | HP:0000554 | Uveitis | 1 | NLRP3 CL E G H | 114548 | 16400 | ORPHA:1451 | CINCA syndrome | HP:0040281 - Very frequent | | | 217 | | |
HP:0100533 | HP:0000554 | Uveitis | 1 | NLRP3 CL E G H | 114548 | 16400 | OMIM:607115 | CINCA SYNDROME; CINCA | | | | 217 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | NLRP3 CL E G H | 114548 | 16400 | OMIM:617772 | Deafness, autosomal dominant 34, with or without inflammation | . | | | 217 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | NLRP3 CL E G H | 114548 | 16400 | OMIM:120100 | FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1 | | | | 217 | | |
HP:0100533 | HP:0000554 | Uveitis | 1 | NLRP3 CL E G H | 114548 | 16400 | OMIM:120100 | FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1 | | | | 217 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | NLRP3 CL E G H | 114548 | 16400 | ORPHA:47045 | Familial cold urticaria | HP:0040283 - Occasional | | | 217 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | NLRP3 CL E G H | 114548 | 16400 | OMIM:148200 | Keratoendotheliitis fugax hereditaria | . | | | 217 | | |
HP:0100533 | HP:0000554 | Uveitis | 1 | NLRP3 CL E G H | 114548 | 16400 | ORPHA:575 | Muckle-Wells syndrome | HP:0040281 - Very frequent | | | 217 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | NLRP3 CL E G H | 114548 | 16400 | OMIM:191900 | Muckle-Wells syndrome | | | | 217 | | |
HP:0100533 | HP:0100534 | Episcleritis | 1 | NLRP3 CL E G H | 114548 | 16400 | ORPHA:575 | Muckle-Wells syndrome | HP:0040281 - Very frequent | | | 217 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | NLRP3 CL E G H | 114548 | 16400 | ORPHA:575 | Muckle-Wells syndrome | HP:0040281 - Very frequent | | | 217 | | |
HP:0100533 | HP:0000554 | Uveitis | 1 | NOD2 CL E G H | 64127 | 5331 | OMIM:186580 | Blau syndrome | | | | 187 | | |
HP:0100533 | HP:0000554 | Uveitis | 1 | NOD2 CL E G H | 64127 | 5331 | ORPHA:90340 | Blau syndrome | | | | 187 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | NOD2 CL E G H | 64127 | 5331 | ORPHA:90340 | Blau syndrome | HP:0040281 - Very frequent | | | 187 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | NOD2 CL E G H | 64127 | 5331 | OMIM:617321 | YAO SYNDROME; YAOS | | | | 187 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | NOD2 CL E G H | 64127 | 5331 | OMIM:617321 | YAO SYNDROME; YAOS | | | | 187 | | |
HP:0100533 | HP:0000498 | Blepharitis | 1 | NOP10 CL E G H | 55505 | 14378 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 17 | | |
HP:0100533 | HP:0000498 | Blepharitis | 1 | NPM1 CL E G H | 4869 | 7910 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 12 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | NTRK1 CL E G H | 4914 | 8031 | OMIM:256800 | Insensitivity to pain, congenital, with anhidrosis | . | | | 97 | | |
HP:0100533 | HP:0000498 | Blepharitis | 1 | PARN CL E G H | 5073 | 8609 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 26 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | PAX1 CL E G H | 5075 | 8615 | OMIM:615560 | Otofaciocervical syndrome 2 | | | | 3 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | PAX6 CL E G H | 5080 | 8620 | ORPHA:2334 | Autosomal dominant keratitis | HP:0040280 - Obligate | | | 194 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | PAX6 CL E G H | 5080 | 8620 | OMIM:148190 | Keratitis, hereditary | . | | | 194 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | PERCC1 CL E G H | 105371045 | 52293 | ORPHA:92050 | Congenital tufting enteropathy | | | | | | |
HP:0100533 | HP:0000498 | Blepharitis | 1 | PIGN CL E G H | 23556 | 8967 | ORPHA:280633 | Multiple congenital anomalies-hypotonia-seizures syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | PIK3R1 CL E G H | 5295 | 8979 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 43 | | |
HP:0100533 | HP:0000498 | Blepharitis | 1 | PLCD1 CL E G H | 5333 | 9060 | ORPHA:2387 | Leukonychia totalis | HP:0040282 - Frequent | | | 5 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | PLEC CL E G H | 5339 | 9069 | OMIM:226670 | Epidermolysis bullosa simplex with muscular dystrophy | . | | | 759 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | PLG CL E G H | 5340 | 9071 | OMIM:217090 | Plasminogen deficiency, type iligneous conjunctivitis, included | . | | | 11 | | |
HP:0100533 | HP:0000498 | Blepharitis | 1 | PLXND1 CL E G H | 23129 | 9107 | ORPHA:570 | Moebius syndrome | HP:0040283 - Occasional | | | | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | PNPLA1 CL E G H | 285848 | 21246 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | HP:0040282 - Frequent | | | 47 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | POLH CL E G H | 5429 | 9181 | ORPHA:90342 | Xeroderma pigmentosum variant | HP:0040282 - Frequent | | | 155 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | POLH CL E G H | 5429 | 9181 | OMIM:278750 | Xeroderma pigmentosum, Variant type | . | | | 155 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | POLH CL E G H | 5429 | 9181 | OMIM:278750 | Xeroderma pigmentosum, Variant type | . | | | 155 | | |
HP:0100533 | HP:0000554 | Uveitis | 1 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040284 - Very rare | | | 10 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | PSMB4 CL E G H | 5692 | 9541 | OMIM:617591 | Proteasome-Associated autoinflammatory syndrome 3 | . | | | | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | PSMB8 CL E G H | 5696 | 9545 | OMIM:256040 | Proteasome-associated autoinflammatory syndrome 1 and digenic forms | | | | 20 | | |
HP:0100533 | HP:0100534 | Episcleritis | 1 | PSMB8 CL E G H | 5696 | 9545 | OMIM:256040 | Proteasome-associated autoinflammatory syndrome 1 and digenic forms | | | | 20 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | PSMB9 CL E G H | 5698 | 9546 | OMIM:617591 | Proteasome-Associated autoinflammatory syndrome 3 | . | | | | | |
HP:0100533 | HP:0000554 | Uveitis | 1 | PTPN2 CL E G H | 5771 | 9650 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | HP:0040282 - Frequent | | | | | |
HP:0100533 | HP:0000554 | Uveitis | 1 | PTPN2 CL E G H | 5771 | 9650 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | | | |
HP:0100533 | HP:0000554 | Uveitis | 1 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | HP:0040282 - Frequent | | | 3 | | |
HP:0100533 | HP:0000554 | Uveitis | 1 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 3 | | |
HP:0100533 | HP:0000498 | Blepharitis | 1 | RAD21 CL E G H | 5885 | 9811 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 25 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | RAG1 CL E G H | 5896 | 9831 | OMIM:601457 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | . | | | 127 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | RAG2 CL E G H | 5897 | 9832 | OMIM:601457 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | . | | | 50 | | |
HP:0100533 | HP:0000554 | Uveitis | 1 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040284 - Very rare | | | | | |
HP:0100533 | HP:0000498 | Blepharitis | 1 | REV3L CL E G H | 5980 | 9968 | ORPHA:570 | Moebius syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | RNF113A CL E G H | 7737 | 12974 | ORPHA:33364 | Trichothiodystrophy | | | | 3 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | RNF113A CL E G H | 7737 | 12974 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | RNF125 CL E G H | 54941 | 21150 | OMIM:616260 | Tenorio syndrome | | | | 5 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | RNF125 CL E G H | 54941 | 21150 | OMIM:616260 | Tenorio syndrome | | | | 5 | | |
HP:0100533 | HP:0000498 | Blepharitis | 1 | RTEL1 CL E G H | 51750 | 15888 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 77 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | SAMD9 CL E G H | 54809 | 1348 | OMIM:610455 | Tumoral calcinosis, normophosphatemic, familial | . | | | 8 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | SCN9A CL E G H | 6335 | 10597 | OMIM:133020 | Erythermalgia, primary | | | | 318 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | SCN9A CL E G H | 6335 | 10597 | OMIM:133020 | Erythermalgia, primary | | | | 318 | | |
HP:0100533 | HP:0000554 | Uveitis | 1 | SEMA4D CL E G H | 10507 | 10732 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040284 - Very rare | | | | | |
HP:0100533 | HP:0100534 | Episcleritis | 1 | SLC29A3 CL E G H | 55315 | 23096 | OMIM:602782 | Histiocytosis-lymphadenopathy plus syndrome | | | | 68 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | SLC35C1 CL E G H | 55343 | 20197 | ORPHA:99843 | Leukocyte adhesion deficiency type II | HP:0040283 - Occasional | | | 71 | | |
HP:0100533 | HP:0000498 | Blepharitis | 1 | SLC39A4 CL E G H | 55630 | 17129 | ORPHA:37 | Acrodermatitis enteropathica | HP:0040282 - Frequent | | | 55 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | SLC39A4 CL E G H | 55630 | 17129 | ORPHA:37 | Acrodermatitis enteropathica | HP:0040282 - Frequent | | | 55 | | |
HP:0100533 | HP:0000498 | Blepharitis | 1 | SMC1A CL E G H | 8243 | 11111 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 135 | | |
HP:0100533 | HP:0000498 | Blepharitis | 1 | SMC3 CL E G H | 9126 | 2468 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 91 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | SREBF1 CL E G H | 6720 | 11289 | OMIM:619016 | IFAP SYNDROME 2; IFAP2 | | | | 1 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | SREBF1 CL E G H | 6720 | 11289 | OMIM:619016 | IFAP SYNDROME 2; IFAP2 | | | | 1 | | |
HP:0100533 | HP:0000498 | Blepharitis | 1 | SREBF1 CL E G H | 6720 | 11289 | OMIM:619016 | IFAP SYNDROME 2; IFAP2 | | | | 1 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | SREBF1 CL E G H | 6720 | 11289 | OMIM:158310 | Mucoepithelial dysplasia, hereditary | | | | 1 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | SREBF1 CL E G H | 6720 | 11289 | OMIM:158310 | Mucoepithelial dysplasia, hereditary | | | | 1 | | |
HP:0100533 | HP:0000498 | Blepharitis | 1 | ST14 CL E G H | 6768 | 11344 | OMIM:602400 | Ichthyosis, congenital, autosomal recessive 11 | . | | | 4 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | STAT4 CL E G H | 6775 | 11365 | ORPHA:117 | Behçet disease | | | | 2 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | STAT4 CL E G H | 6775 | 11365 | ORPHA:117 | Behçet disease | | | | 2 | | |
HP:0100533 | HP:0000554 | Uveitis | 1 | STAT4 CL E G H | 6775 | 11365 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | HP:0040282 - Frequent | | | 2 | | |
HP:0100533 | HP:0000554 | Uveitis | 1 | STAT4 CL E G H | 6775 | 11365 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 2 | | |
HP:0100533 | HP:0000554 | Uveitis | 1 | STUB1 CL E G H | 10273 | 11427 | ORPHA:412057 | Autosomal recessive cerebellar ataxia due to STUB1 deficiency | | | | 14 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | STX11 CL E G H | 8676 | 11429 | OMIM:603552 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4 | | | | 85 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | STX16 CL E G H | 8675 | 11431 | ORPHA:94089 | Pseudohypoparathyroidism type 1B | HP:0040283 - Occasional | | | 86 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | TARS1 CL E G H | 6897 | 11572 | ORPHA:33364 | Trichothiodystrophy | | | | | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | TARS1 CL E G H | 6897 | 11572 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0100533 | HP:0000498 | Blepharitis | 1 | TBX4 CL E G H | 9496 | 11603 | ORPHA:261279 | 17q23.1q23.2 microdeletion syndrome | HP:0040283 - Occasional | | | 55 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | TCF3 CL E G H | 6929 | 11633 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 2 | | |
HP:0100533 | HP:0000554 | Uveitis | 1 | TCF4 CL E G H | 6925 | 11634 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040284 - Very rare | | | 241 | | |
HP:0100533 | HP:0000498 | Blepharitis | 1 | TERC CL E G H | 7012 | 11727 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 48 | | |
HP:0100533 | HP:0000498 | Blepharitis | 1 | TERT CL E G H | 7015 | 11730 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 238 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | TFRC CL E G H | 7037 | 11763 | OMIM:616740 | Immunodeficiency 46 | | | | 1 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | TGM1 CL E G H | 7051 | 11777 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | HP:0040282 - Frequent | | | 98 | | |
HP:0100533 | HP:0000498 | Blepharitis | 1 | TINF2 CL E G H | 26277 | 11824 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 60 | | |
HP:0100533 | HP:0000554 | Uveitis | 1 | TKT CL E G H | 7086 | 11834 | OMIM:617044 | Short stature, developmental delay, and congenital heart defects | HP:0040283 - Occasional | | | 4 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | TKT CL E G H | 7086 | 11834 | ORPHA:488618 | Transketolase deficiency | HP:0040283 - Occasional | | | 4 | | |
HP:0100533 | HP:0000554 | Uveitis | 1 | TKT CL E G H | 7086 | 11834 | ORPHA:488618 | Transketolase deficiency | HP:0040282 - Frequent | | | 4 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | TLR4 CL E G H | 7099 | 11850 | ORPHA:117 | Behçet disease | | | | 3 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | TLR4 CL E G H | 7099 | 11850 | ORPHA:117 | Behçet disease | | | | 3 | | |
HP:0100533 | HP:0000554 | Uveitis | 1 | TNFAIP3 CL E G H | 7128 | 11896 | OMIM:616744 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL | | | | 26 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | TNFRSF13B CL E G H | 23495 | 18153 | OMIM:240500 | Immunodeficiency, common variable, 2 | . | | | 32 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | TNFRSF13C CL E G H | 115650 | 17755 | OMIM:240500 | Immunodeficiency, common variable, 2 | . | | | 12 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | TNFRSF1A CL E G H | 7132 | 11916 | OMIM:142680 | Periodic fever, familial, autosomal dominant | | | | 131 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | TNFRSF1A CL E G H | 7132 | 11916 | ORPHA:32960 | Tumor necrosis factor receptor 1 associated periodic syndrome | HP:0040283 - Occasional | | | 131 | | |
HP:0100533 | HP:0000554 | Uveitis | 1 | TNFRSF1A CL E G H | 7132 | 11916 | ORPHA:32960 | Tumor necrosis factor receptor 1 associated periodic syndrome | HP:0040283 - Occasional | | | 131 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | TP63 CL E G H | 8626 | 15979 | OMIM:103285 | Adult syndrome | . | | | 140 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | TP63 CL E G H | 8626 | 15979 | OMIM:106260 | Ankyloblepharon-Ectodermal defects-cleft lip/palate | . | | | 140 | | |
HP:0100533 | HP:0000498 | Blepharitis | 1 | TP63 CL E G H | 8626 | 15979 | OMIM:106260 | Ankyloblepharon-Ectodermal defects-cleft lip/palate | . | | | 140 | | |
HP:0100533 | HP:0000498 | Blepharitis | 1 | TP63 CL E G H | 8626 | 15979 | OMIM:604292 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | . | | | 140 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | TP63 CL E G H | 8626 | 15979 | ORPHA:1896 | EEC syndrome | HP:0040282 - Frequent | | | 140 | | |
HP:0100533 | HP:0000498 | Blepharitis | 1 | TP63 CL E G H | 8626 | 15979 | ORPHA:1896 | EEC syndrome | HP:0040282 - Frequent | | | 140 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | TP63 CL E G H | 8626 | 15979 | ORPHA:69085 | Limb-mammary syndrome | | | | 140 | | |
HP:0100533 | HP:0000498 | Blepharitis | 1 | TP63 CL E G H | 8626 | 15979 | ORPHA:69085 | Limb-mammary syndrome | HP:0040283 - Occasional | | | 140 | | |
HP:0100533 | HP:0000498 | Blepharitis | 1 | TRAF3IP2 CL E G H | 10758 | 1343 | OMIM:615527 | Candidiasis, familial, 8 | . | | | 4 | | |
HP:0100533 | HP:0000498 | Blepharitis | 1 | TYMS CL E G H | 7298 | 12441 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 1 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | UBAC2 CL E G H | 337867 | 20486 | ORPHA:117 | Behçet disease | | | | | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | UBAC2 CL E G H | 337867 | 20486 | ORPHA:117 | Behçet disease | | | | | | |
HP:0100533 | HP:0100532 | Scleritis | 1 | UROD CL E G H | 7389 | 12591 | ORPHA:95159 | Hepatoerythropoietic porphyria | HP:0040284 - Very rare | | | 31 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | UROD CL E G H | 7389 | 12591 | ORPHA:95159 | Hepatoerythropoietic porphyria | | | | 31 | | |
HP:0100533 | HP:0000498 | Blepharitis | 1 | UROD CL E G H | 7389 | 12591 | ORPHA:95159 | Hepatoerythropoietic porphyria | | | | 31 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | UROD CL E G H | 7389 | 12591 | ORPHA:95159 | Hepatoerythropoietic porphyria | | | | 31 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | UROS CL E G H | 7390 | 12592 | ORPHA:79277 | Congenital erythropoietic porphyria | | | | 41 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | UROS CL E G H | 7390 | 12592 | ORPHA:79277 | Congenital erythropoietic porphyria | | | | 41 | | |
HP:0100533 | HP:0100532 | Scleritis | 1 | UROS CL E G H | 7390 | 12592 | ORPHA:79277 | Congenital erythropoietic porphyria | HP:0040284 - Very rare | | | 41 | | |
HP:0100533 | HP:0000498 | Blepharitis | 1 | UROS CL E G H | 7390 | 12592 | ORPHA:79277 | Congenital erythropoietic porphyria | | | | 41 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | UROS CL E G H | 7390 | 12592 | OMIM:263700 | Porphyria, congenital erythropoietic | . | | | 41 | | |
HP:0100533 | HP:0000498 | Blepharitis | 1 | USB1 CL E G H | 79650 | 25792 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 8 | | |
HP:0100533 | HP:0000498 | Blepharitis | 1 | USB1 CL E G H | 79650 | 25792 | OMIM:604173 | Poikiloderma with neutropenia | . | | | 8 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | USB1 CL E G H | 79650 | 25792 | OMIM:604173 | Poikiloderma with neutropenia | . | | | 8 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | VPS33A CL E G H | 65082 | 18179 | ORPHA:505248 | Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders | HP:0040283 - Occasional | | | 1 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | WAS CL E G H | 7454 | 12731 | ORPHA:906 | Wiskott-Aldrich syndrome | HP:0040283 - Occasional | | | 65 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | WAS CL E G H | 7454 | 12731 | ORPHA:906 | Wiskott-Aldrich syndrome | HP:0040283 - Occasional | | | 65 | | |
HP:0100533 | HP:0000498 | Blepharitis | 1 | WAS CL E G H | 7454 | 12731 | ORPHA:906 | Wiskott-Aldrich syndrome | HP:0040283 - Occasional | | | 65 | | |
HP:0100533 | HP:0000498 | Blepharitis | 1 | WIPF1 CL E G H | 7456 | 12736 | ORPHA:906 | Wiskott-Aldrich syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | WIPF1 CL E G H | 7456 | 12736 | ORPHA:906 | Wiskott-Aldrich syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | WIPF1 CL E G H | 7456 | 12736 | ORPHA:906 | Wiskott-Aldrich syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0100533 | HP:0000498 | Blepharitis | 1 | WRAP53 CL E G H | 55135 | 25522 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 40 | | |
HP:0100533 | HP:0000498 | Blepharitis | 1 | XPA CL E G H | 7507 | 12814 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 34 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | XPA CL E G H | 7507 | 12814 | ORPHA:910 | Xeroderma pigmentosum | HP:0040282 - Frequent | | | 34 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | XPA CL E G H | 7507 | 12814 | OMIM:278700 | Xeroderma pigmentosum, complementation group A | . | | | 34 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | XPA CL E G H | 7507 | 12814 | OMIM:278700 | Xeroderma pigmentosum, complementation group A | . | | | 34 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | XPC CL E G H | 7508 | 12816 | ORPHA:910 | Xeroderma pigmentosum | HP:0040282 - Frequent | | | 86 | | |
HP:0100533 | HP:0000498 | Blepharitis | 1 | XPC CL E G H | 7508 | 12816 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 86 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | XPC CL E G H | 7508 | 12816 | OMIM:278720 | Xeroderma pigmentosum, complementation group C | . | | | 86 | | |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | XPC CL E G H | 7508 | 12816 | OMIM:278720 | Xeroderma pigmentosum, complementation group C | . | | | 86 | | |
HP:0100533 | HP:0000491 | Keratitis | 1 | ZEB1 CL E G H | 6935 | 11642 | OMIM:613270 | Corneal dystrophy, fuchs endothelial, 6 | | | | 8 | | |
HP:0100533 | HP:0025609 | Anterior blepharitis | 2 | CL E G H | | | | | | | | | | |
HP:0100533 | HP:0012124 | Intermediate uveitis | 2 | CL E G H | | | | | | | | | | |
HP:0100533 | HP:0007879 | Allergic conjunctivitis | 2 | CL E G H | | | | | | | | | | |
HP:0100533 | HP:0001096 | Keratoconjunctivitis | 2 | AEBP1 CL E G H | 165 | 303 | ORPHA:536532 | Classical-like Ehlers-Danlos syndrome type 2 | | | | | | |
HP:0100533 | HP:0001096 | Keratoconjunctivitis | 2 | AIRE CL E G H | 326 | 360 | OMIM:240300 | AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1 | | | | 92 | | |
HP:0100533 | HP:0012122 | Anterior uveitis | 2 | AIRE CL E G H | 326 | 360 | OMIM:240300 | AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1 | | | | 92 | | |
HP:0100533 | HP:0012122 | Anterior uveitis | 2 | ANKRD55 CL E G H | 79722 | 25681 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | | | |
HP:0100533 | HP:0012123 | Posterior uveitis | 2 | BCL10 CL E G H | 8915 | 989 | ORPHA:52417 | MALT lymphoma | HP:0040283 - Occasional | | | 18 | | |
HP:0100533 | HP:0012123 | Posterior uveitis | 2 | BIRC3 CL E G H | 330 | 591 | ORPHA:52417 | MALT lymphoma | HP:0040283 - Occasional | | | | | |
HP:0100533 | HP:0001096 | Keratoconjunctivitis | 2 | BTNL2 CL E G H | 56244 | 1142 | ORPHA:797 | Sarcoidosis | | | | 1 | | |
HP:0100533 | HP:0001096 | Keratoconjunctivitis | 2 | C4A CL E G H | 720 | 1323 | ORPHA:117 | Behçet disease | | | | 1 | | |
HP:0100533 | HP:0001096 | Keratoconjunctivitis | 2 | CARS1 CL E G H | 833 | 1493 | ORPHA:33364 | Trichothiodystrophy | | | | | | |
HP:0100533 | HP:0001096 | Keratoconjunctivitis | 2 | CCR1 CL E G H | 1230 | 1602 | ORPHA:117 | Behçet disease | | | | | | |
HP:0100533 | HP:0012122 | Anterior uveitis | 2 | CD247 CL E G H | 919 | 1677 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | 8 | | |
HP:0100533 | HP:0001096 | Keratoconjunctivitis | 2 | COL17A1 CL E G H | 1308 | 2194 | ORPHA:293381 | Epithelial recurrent erosion dystrophy | | | | 129 | | |
HP:0100533 | HP:0011859 | Punctate keratitis | 2 | EPCAM CL E G H | 4072 | 11529 | ORPHA:92050 | Congenital tufting enteropathy | HP:0040284 - Very rare | | | 170 | | |
HP:0100533 | HP:0001096 | Keratoconjunctivitis | 2 | ERAP1 CL E G H | 51752 | 18173 | ORPHA:117 | Behçet disease | | | | 1 | | |
HP:0100533 | HP:0001096 | Keratoconjunctivitis | 2 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:33364 | Trichothiodystrophy | | | | 106 | | |
HP:0100533 | HP:0001096 | Keratoconjunctivitis | 2 | ERCC2 CL E G H | 2068 | 3434 | OMIM:601675 | Trichothiodystrophy 1, photosensitive | | | | 106 | | |
HP:0100533 | HP:0001096 | Keratoconjunctivitis | 2 | ERCC2 CL E G H | 2068 | 3434 | OMIM:278730 | Xeroderma pigmentosum, complementation group D | | | | 106 | | |
HP:0100533 | HP:0001096 | Keratoconjunctivitis | 2 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:33364 | Trichothiodystrophy | | | | 54 | | |
HP:0100533 | HP:0001096 | Keratoconjunctivitis | 2 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90324 | Cockayne syndrome type 3 | | | | 199 | | |
HP:0100533 | HP:0001096 | Keratoconjunctivitis | 2 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90324 | Cockayne syndrome type 3 | | | | 55 | | |
HP:0100533 | HP:0001096 | Keratoconjunctivitis | 2 | FAS CL E G H | 355 | 11920 | ORPHA:117 | Behçet disease | | | | 59 | | |
HP:0100533 | HP:0001096 | Keratoconjunctivitis | 2 | FBN1 CL E G H | 2200 | 3603 | OMIM:616914 | Marfan lipodystrophy syndrome | | | | 1361 | | |
HP:0100533 | HP:0001096 | Keratoconjunctivitis | 2 | FGF10 CL E G H | 2255 | 3666 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040283 - Occasional | | | 17 | | |
HP:0100533 | HP:0001096 | Keratoconjunctivitis | 2 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040283 - Occasional | | | 175 | | |
HP:0100533 | HP:0001096 | Keratoconjunctivitis | 2 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040283 - Occasional | | | 145 | | |
HP:0100533 | HP:0012123 | Posterior uveitis | 2 | FOXP1 CL E G H | 27086 | 3823 | ORPHA:52417 | MALT lymphoma | HP:0040283 - Occasional | | | 184 | | |
HP:0100533 | HP:0001096 | Keratoconjunctivitis | 2 | GATA1 CL E G H | 2623 | 4170 | ORPHA:79277 | Congenital erythropoietic porphyria | HP:0040284 - Very rare | | | 29 | | |
HP:0100533 | HP:0025610 | Posterior blepharitis | 2 | GATA1 CL E G H | 2623 | 4170 | ORPHA:79277 | Congenital erythropoietic porphyria | | | | 29 | | |
HP:0100533 | HP:0011859 | Punctate keratitis | 2 | GJB2 CL E G H | 2706 | 4284 | OMIM:602540 | Ichthyosis, hystrix-like, with deafness | . | | | 199 | | |
HP:0100533 | HP:0001096 | Keratoconjunctivitis | 2 | GJB2 CL E G H | 2706 | 4284 | OMIM:148210 | Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant | | | | 199 | | |
HP:0100533 | HP:0025610 | Posterior blepharitis | 2 | GJB2 CL E G H | 2706 | 4284 | ORPHA:477 | KID syndrome | | | | 199 | | |
HP:0100533 | HP:0011859 | Punctate keratitis | 2 | GJB2 CL E G H | 2706 | 4284 | ORPHA:477 | KID syndrome | | | | 199 | | |
HP:0100533 | HP:0001096 | Keratoconjunctivitis | 2 | GJB2 CL E G H | 2706 | 4284 | ORPHA:477 | KID syndrome | | | | 199 | | |
HP:0100533 | HP:0011859 | Punctate keratitis | 2 | GJB6 CL E G H | 10804 | 4288 | ORPHA:477 | KID syndrome | | | | 56 | | |
HP:0100533 | HP:0001096 | Keratoconjunctivitis | 2 | GJB6 CL E G H | 10804 | 4288 | ORPHA:477 | KID syndrome | | | | 56 | | |
HP:0100533 | HP:0025610 | Posterior blepharitis | 2 | GJB6 CL E G H | 10804 | 4288 | ORPHA:477 | KID syndrome | | | | 56 | | |
HP:0100533 | HP:0001096 | Keratoconjunctivitis | 2 | GSN CL E G H | 2934 | 4620 | ORPHA:85448 | AGel amyloidosis | | | | 53 | | |
HP:0100533 | HP:0001096 | Keratoconjunctivitis | 2 | GTF2E2 CL E G H | 2961 | 4651 | ORPHA:33364 | Trichothiodystrophy | | | | 2 | | |
HP:0100533 | HP:0001096 | Keratoconjunctivitis | 2 | GTF2H5 CL E G H | 404672 | 21157 | ORPHA:33364 | Trichothiodystrophy | | | | 3 | | |
HP:0100533 | HP:0001096 | Keratoconjunctivitis | 2 | HLA-B CL E G H | 3106 | 4932 | ORPHA:117 | Behçet disease | | | | 4 | | |
HP:0100533 | HP:0012122 | Anterior uveitis | 2 | HLA-B CL E G H | 3106 | 4932 | OMIM:106300 | Spondyloarthropathy, susceptibility to, 1 | . | | | 4 | | |
HP:0100533 | HP:0001096 | Keratoconjunctivitis | 2 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:797 | Sarcoidosis | | | | 2 | | |
HP:0100533 | HP:0012122 | Anterior uveitis | 2 | HLA-DRB1 CL E G H | 3123 | 4948 | OMIM:181000 | Sarcoidosis, susceptibility to, 1 | | | | 2 | | |
HP:0100533 | HP:0012122 | Anterior uveitis | 2 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:85414 | Systemic-onset juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 2 | | |
HP:0100533 | HP:0001096 | Keratoconjunctivitis | 2 | HLCS CL E G H | 3141 | 4976 | ORPHA:79242 | Holocarboxylase synthetase deficiency | HP:0040281 - Very frequent | | | 148 | | |
HP:0100533 | HP:0001096 | Keratoconjunctivitis | 2 | IARS2 CL E G H | 55699 | 29685 | OMIM:616007 | Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia | | | | 25 | | |
HP:0100533 | HP:0001096 | Keratoconjunctivitis | 2 | IFNGR1 CL E G H | 3459 | 5439 | ORPHA:117 | Behçet disease | | | | 60 | | |
HP:0100533 | HP:0012123 | Posterior uveitis | 2 | IGH CL E G H | 3492 | 5477 | ORPHA:52417 | MALT lymphoma | HP:0040283 - Occasional | | | 7 | | |
HP:0100533 | HP:0012122 | Anterior uveitis | 2 | IKBKG CL E G H | 8517 | 5961 | OMIM:301081 | | | | | 52 | | |
HP:0100533 | HP:0012121 | Panuveitis | 2 | IKBKG CL E G H | 8517 | 5961 | OMIM:301081 | | | | | 52 | | |
HP:0100533 | HP:0001096 | Keratoconjunctivitis | 2 | IL10 CL E G H | 3586 | 5962 | ORPHA:117 | Behçet disease | | | | 2 | | |
HP:0100533 | HP:0001096 | Keratoconjunctivitis | 2 | IL12A CL E G H | 3592 | 5969 | ORPHA:117 | Behçet disease | | | | | | |
HP:0100533 | HP:0001096 | Keratoconjunctivitis | 2 | IL12A-AS1 CL E G H | 101928376 | 49094 | ORPHA:117 | Behçet disease | | | | | | |
HP:0100533 | HP:0001096 | Keratoconjunctivitis | 2 | IL23R CL E G H | 149233 | 19100 | ORPHA:117 | Behçet disease | | | | 1 | | |
HP:0100533 | HP:0012122 | Anterior uveitis | 2 | IL2RA CL E G H | 3559 | 6008 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | 65 | | |
HP:0100533 | HP:0012122 | Anterior uveitis | 2 | IL2RB CL E G H | 3560 | 6009 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | | | |
HP:0100533 | HP:0012122 | Anterior uveitis | 2 | IL6 CL E G H | 3569 | 6018 | ORPHA:85414 | Systemic-onset juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 2 | | |
HP:0100533 | HP:0001096 | Keratoconjunctivitis | 2 | KLRC4 CL E G H | 8302 | 6377 | ORPHA:117 | Behçet disease | | | | | | |
HP:0100533 | HP:0012122 | Anterior uveitis | 2 | LACC1 CL E G H | 144811 | 26789 | ORPHA:85414 | Systemic-onset juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 1 | | |
HP:0100533 | HP:0001096 | Keratoconjunctivitis | 2 | LBR CL E G H | 3930 | 6518 | ORPHA:779 | Reynolds syndrome | | | | 70 | | |
HP:0100533 | HP:0001096 | Keratoconjunctivitis | 2 | MAB21L1 CL E G H | 4081 | 6757 | OMIM:618479 | Cerebellar, ocular, craniofacial, and genital syndrome | | | | | | |
HP:0100533 | HP:0012123 | Posterior uveitis | 2 | MALT1 CL E G H | 10892 | 6819 | ORPHA:52417 | MALT lymphoma | HP:0040283 - Occasional | | | 6 | | |
HP:0100533 | HP:0025610 | Posterior blepharitis | 2 | MBTPS2 |