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:0000498 | HP:0000498 | Blepharitis | 0 | ADAM17 CL E G H | 6868 | 195 | OMIM:614328 | INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1 | | | | 2 | | |
HP:0000498 | HP:0000498 | Blepharitis | 0 | ADAM17 CL E G H | 6868 | 195 | ORPHA:294023 | Neonatal inflammatory skin and bowel disease | HP:0040282 - Frequent | | | 2 | | |
HP:0000498 | HP:0000498 | Blepharitis | 0 | APOE CL E G H | 348 | 613 | ORPHA:158029 | Sea-blue histiocytosis | HP:0040281 - Very frequent | | | 39 | | |
HP:0000498 | HP:0000498 | Blepharitis | 0 | ARPC1B CL E G H | 10095 | 704 | OMIM:617718 | Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease | | | | | | |
HP:0000498 | HP:0000498 | Blepharitis | 0 | BRD4 CL E G H | 23476 | 13575 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | | | |
HP:0000498 | HP:0000498 | Blepharitis | 0 | CST6 CL E G H | 1474 | 2478 | OMIM:618535 | Ectodermal dysplasia 15, Hypohidrotic/hair type | . | | | | | |
HP:0000498 | HP:0000498 | Blepharitis | 0 | CTC1 CL E G H | 80169 | 26169 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 160 | | |
HP:0000498 | HP:0000498 | Blepharitis | 0 | DDB2 CL E G H | 1643 | 2718 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 30 | | |
HP:0000498 | HP:0000498 | Blepharitis | 0 | DKC1 CL E G H | 1736 | 2890 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 65 | | |
HP:0000498 | HP:0000498 | Blepharitis | 0 | DKC1 CL E G H | 1736 | 2890 | OMIM:305000 | Dyskeratosis congenita, X-linked | . | | | 65 | | |
HP:0000498 | HP:0000498 | Blepharitis | 0 | EGFR CL E G H | 1956 | 3236 | ORPHA:294023 | Neonatal inflammatory skin and bowel disease | HP:0040282 - Frequent | | | 257 | | |
HP:0000498 | HP:0000498 | Blepharitis | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 106 | | |
HP:0000498 | HP:0000498 | Blepharitis | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 54 | | |
HP:0000498 | HP:0000498 | Blepharitis | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 158 | | |
HP:0000498 | HP:0000498 | Blepharitis | 0 | ERCC5 CL E G H | 2073 | 3437 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 83 | | |
HP:0000498 | HP:0000498 | Blepharitis | 0 | GATA1 CL E G H | 2623 | 4170 | ORPHA:79277 | Congenital erythropoietic porphyria | | | | 29 | | |
HP:0000498 | HP:0000498 | Blepharitis | 0 | GJB2 CL E G H | 2706 | 4284 | ORPHA:477 | KID syndrome | | | | 199 | | |
HP:0000498 | HP:0000498 | Blepharitis | 0 | GJB6 CL E G H | 10804 | 4288 | OMIM:129500 | Clouston syndrome | . | | | 56 | | |
HP:0000498 | HP:0000498 | Blepharitis | 0 | GJB6 CL E G H | 10804 | 4288 | ORPHA:477 | KID syndrome | | | | 56 | | |
HP:0000498 | HP:0000498 | Blepharitis | 0 | HDAC8 CL E G H | 55869 | 13315 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 37 | | |
HP:0000498 | HP:0000498 | Blepharitis | 0 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:2273 | Ichthyosis follicularis-alopecia-photophobia syndrome | HP:0040283 - Occasional | | | 22 | | |
HP:0000498 | HP:0000498 | Blepharitis | 0 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:308800 | Keratosis follicularis spinulosa decalvans, X-linked | . | | | 22 | | |
HP:0000498 | HP:0000498 | Blepharitis | 0 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:300918 | Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked | . | | | 22 | | |
HP:0000498 | HP:0000498 | Blepharitis | 0 | MSMO1 CL E G H | 6307 | 10545 | OMIM:616834 | Microcephaly, congenital cataract, and psoriasiform dermatitis | . | | | 3 | | |
HP:0000498 | HP:0000498 | Blepharitis | 0 | NHP2 CL E G H | 55651 | 14377 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 27 | | |
HP:0000498 | HP:0000498 | Blepharitis | 0 | NIPBL CL E G H | 25836 | 28862 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 494 | | |
HP:0000498 | HP:0000498 | Blepharitis | 0 | NOP10 CL E G H | 55505 | 14378 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 17 | | |
HP:0000498 | HP:0000498 | Blepharitis | 0 | NPM1 CL E G H | 4869 | 7910 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 12 | | |
HP:0000498 | HP:0000498 | Blepharitis | 0 | PARN CL E G H | 5073 | 8609 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 26 | | |
HP:0000498 | HP:0000498 | Blepharitis | 0 | PIGN CL E G H | 23556 | 8967 | ORPHA:280633 | Multiple congenital anomalies-hypotonia-seizures syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0000498 | HP:0000498 | Blepharitis | 0 | PLCD1 CL E G H | 5333 | 9060 | ORPHA:2387 | Leukonychia totalis | HP:0040282 - Frequent | | | 5 | | |
HP:0000498 | HP:0000498 | Blepharitis | 0 | PLXND1 CL E G H | 23129 | 9107 | ORPHA:570 | Moebius syndrome | HP:0040283 - Occasional | | | | | |
HP:0000498 | HP:0000498 | Blepharitis | 0 | RAD21 CL E G H | 5885 | 9811 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 25 | | |
HP:0000498 | HP:0000498 | Blepharitis | 0 | REV3L CL E G H | 5980 | 9968 | ORPHA:570 | Moebius syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0000498 | HP:0000498 | Blepharitis | 0 | RTEL1 CL E G H | 51750 | 15888 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 77 | | |
HP:0000498 | HP:0000498 | Blepharitis | 0 | SLC39A4 CL E G H | 55630 | 17129 | ORPHA:37 | Acrodermatitis enteropathica | HP:0040282 - Frequent | | | 55 | | |
HP:0000498 | HP:0000498 | Blepharitis | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 135 | | |
HP:0000498 | HP:0000498 | Blepharitis | 0 | SMC3 CL E G H | 9126 | 2468 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 91 | | |
HP:0000498 | HP:0000498 | Blepharitis | 0 | SREBF1 CL E G H | 6720 | 11289 | OMIM:619016 | IFAP SYNDROME 2; IFAP2 | | | | 1 | | |
HP:0000498 | HP:0000498 | Blepharitis | 0 | ST14 CL E G H | 6768 | 11344 | OMIM:602400 | Ichthyosis, congenital, autosomal recessive 11 | . | | | 4 | | |
HP:0000498 | HP:0000498 | Blepharitis | 0 | TBX4 CL E G H | 9496 | 11603 | ORPHA:261279 | 17q23.1q23.2 microdeletion syndrome | HP:0040283 - Occasional | | | 55 | | |
HP:0000498 | HP:0000498 | Blepharitis | 0 | TERC CL E G H | 7012 | 11727 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 48 | | |
HP:0000498 | HP:0000498 | Blepharitis | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 238 | | |
HP:0000498 | HP:0000498 | Blepharitis | 0 | TINF2 CL E G H | 26277 | 11824 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 60 | | |
HP:0000498 | HP:0000498 | Blepharitis | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:106260 | Ankyloblepharon-Ectodermal defects-cleft lip/palate | . | | | 140 | | |
HP:0000498 | HP:0000498 | Blepharitis | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:604292 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | . | | | 140 | | |
HP:0000498 | HP:0000498 | Blepharitis | 0 | TP63 CL E G H | 8626 | 15979 | ORPHA:1896 | EEC syndrome | HP:0040282 - Frequent | | | 140 | | |
HP:0000498 | HP:0000498 | Blepharitis | 0 | TP63 CL E G H | 8626 | 15979 | ORPHA:69085 | Limb-mammary syndrome | HP:0040283 - Occasional | | | 140 | | |
HP:0000498 | HP:0000498 | Blepharitis | 0 | TRAF3IP2 CL E G H | 10758 | 1343 | OMIM:615527 | Candidiasis, familial, 8 | . | | | 4 | | |
HP:0000498 | HP:0000498 | Blepharitis | 0 | TYMS CL E G H | 7298 | 12441 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 1 | | |
HP:0000498 | HP:0000498 | Blepharitis | 0 | UROD CL E G H | 7389 | 12591 | ORPHA:95159 | Hepatoerythropoietic porphyria | | | | 31 | | |
HP:0000498 | HP:0000498 | Blepharitis | 0 | UROS CL E G H | 7390 | 12592 | ORPHA:79277 | Congenital erythropoietic porphyria | | | | 41 | | |
HP:0000498 | HP:0000498 | Blepharitis | 0 | USB1 CL E G H | 79650 | 25792 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 8 | | |
HP:0000498 | HP:0000498 | Blepharitis | 0 | USB1 CL E G H | 79650 | 25792 | OMIM:604173 | Poikiloderma with neutropenia | . | | | 8 | | |
HP:0000498 | HP:0000498 | Blepharitis | 0 | WAS CL E G H | 7454 | 12731 | ORPHA:906 | Wiskott-Aldrich syndrome | HP:0040283 - Occasional | | | 65 | | |
HP:0000498 | HP:0000498 | Blepharitis | 0 | WIPF1 CL E G H | 7456 | 12736 | ORPHA:906 | Wiskott-Aldrich syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0000498 | HP:0000498 | Blepharitis | 0 | WRAP53 CL E G H | 55135 | 25522 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 40 | | |
HP:0000498 | HP:0000498 | Blepharitis | 0 | XPA CL E G H | 7507 | 12814 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 34 | | |
HP:0000498 | HP:0000498 | Blepharitis | 0 | XPC CL E G H | 7508 | 12816 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 86 | | |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | CL E G H | | | | | | | | | | |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | GATA1 CL E G H | 2623 | 4170 | ORPHA:79277 | Congenital erythropoietic porphyria | | | | 29 | | |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | GJB2 CL E G H | 2706 | 4284 | ORPHA:477 | KID syndrome | | | | 199 | | |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | GJB6 CL E G H | 10804 | 4288 | ORPHA:477 | KID syndrome | | | | 56 | | |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:300918 | Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked | . | | | 22 | | |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | SREBF1 CL E G H | 6720 | 11289 | OMIM:619016 | IFAP SYNDROME 2; IFAP2 | | | | 1 | | |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | UROD CL E G H | 7389 | 12591 | ORPHA:95159 | Hepatoerythropoietic porphyria | | | | 31 | | |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | UROS CL E G H | 7390 | 12592 | ORPHA:79277 | Congenital erythropoietic porphyria | | | | 41 | | |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | GATA1 CL E G H | 2623 | 4170 | ORPHA:79277 | Congenital erythropoietic porphyria | HP:0040284 - Very rare | | | 29 | | |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | UROD CL E G H | 7389 | 12591 | ORPHA:95159 | Hepatoerythropoietic porphyria | HP:0040284 - Very rare | | | 31 | | |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | UROS CL E G H | 7390 | 12592 | ORPHA:79277 | Congenital erythropoietic porphyria | HP:0040284 - Very rare | | | 41 | | |