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:0012633 | HP:0012633 | Asymmetry of intraocular pressure | 0 | ADAMTS17 CL E G H | 170691 | 17109 | OMIM:613195 | Weill-Marchesani syndrome 4 | | | | 214 | | |
HP:0012633 | HP:0012633 | Asymmetry of intraocular pressure | 0 | ASB10 CL E G H | 136371 | 17185 | OMIM:603383 | GLAUCOMA 1, OPEN ANGLE, F; GLC1F | | | | 54 | | |
HP:0012633 | HP:0012633 | Asymmetry of intraocular pressure | 0 | ASPH CL E G H | 444 | 757 | OMIM:601552 | Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs | | | | 4 | | |
HP:0012633 | HP:0012633 | Asymmetry of intraocular pressure | 0 | BAP1 CL E G H | 8314 | 950 | ORPHA:39044 | Uveal melanoma | | | | 184 | | |
HP:0012633 | HP:0012633 | Asymmetry of intraocular pressure | 0 | C1QTNF5 CL E G H | 114902 | 14344 | ORPHA:67042 | Late-onset retinal degeneration | | | | 20 | | |
HP:0012633 | HP:0012633 | Asymmetry of intraocular pressure | 0 | CHST14 CL E G H | 113189 | 24464 | ORPHA:2953 | Musculocontractural Ehlers-Danlos syndrome | | | | 27 | | |
HP:0012633 | HP:0012633 | Asymmetry of intraocular pressure | 0 | COL18A1 CL E G H | 80781 | 2195 | OMIM:618880 | GLAUCOMA, PRIMARY CLOSED-ANGLE; GLCC | | | | 177 | | |
HP:0012633 | HP:0012633 | Asymmetry of intraocular pressure | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:93315 | Spondylometaphyseal dysplasia, 'corner fracture' type | | | | 284 | | |
HP:0012633 | HP:0012633 | Asymmetry of intraocular pressure | 0 | COL8A2 CL E G H | 1296 | 2216 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | | | | 3 | | |
HP:0012633 | HP:0012633 | Asymmetry of intraocular pressure | 0 | CYP1B1 CL E G H | 1545 | 2597 | OMIM:231300 | Glaucoma 3, primary congenital, A | | | | 101 | | |
HP:0012633 | HP:0012633 | Asymmetry of intraocular pressure | 0 | CYP1B1 CL E G H | 1545 | 2597 | ORPHA:98977 | Juvenile glaucoma | | | | 101 | | |
HP:0012633 | HP:0012633 | Asymmetry of intraocular pressure | 0 | CYSLTR2 CL E G H | 57105 | 18274 | ORPHA:39044 | Uveal melanoma | | | | 1 | | |
HP:0012633 | HP:0012633 | Asymmetry of intraocular pressure | 0 | DSE CL E G H | 29940 | 21144 | ORPHA:2953 | Musculocontractural Ehlers-Danlos syndrome | | | | 13 | | |
HP:0012633 | HP:0012633 | Asymmetry of intraocular pressure | 0 | EFEMP1 CL E G H | 2202 | 3218 | ORPHA:98977 | Juvenile glaucoma | | | | 54 | | |
HP:0012633 | HP:0012633 | Asymmetry of intraocular pressure | 0 | FN1 CL E G H | 2335 | 3778 | ORPHA:93315 | Spondylometaphyseal dysplasia, 'corner fracture' type | | | | 9 | | |
HP:0012633 | HP:0012633 | Asymmetry of intraocular pressure | 0 | FOXE3 CL E G H | 2301 | 3808 | OMIM:610256 | Anterior segment dysgenesis 2 | | | | 23 | | |
HP:0012633 | HP:0012633 | Asymmetry of intraocular pressure | 0 | GNA11 CL E G H | 2767 | 4379 | ORPHA:39044 | Uveal melanoma | | | | 16 | | |
HP:0012633 | HP:0012633 | Asymmetry of intraocular pressure | 0 | GNAQ CL E G H | 2776 | 4390 | ORPHA:39044 | Uveal melanoma | | | | 7 | | |
HP:0012633 | HP:0012633 | Asymmetry of intraocular pressure | 0 | GRHL2 CL E G H | 79977 | 2799 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | | | | 33 | | |
HP:0012633 | HP:0012633 | Asymmetry of intraocular pressure | 0 | HLA-A CL E G H | 3105 | 4931 | ORPHA:179 | Birdshot chorioretinopathy | | | | 4 | | |
HP:0012633 | HP:0012633 | Asymmetry of intraocular pressure | 0 | HMX1 CL E G H | 3166 | 5017 | OMIM:612109 | Oculoauricular syndrome | | | | 2 | | |
HP:0012633 | HP:0012633 | Asymmetry of intraocular pressure | 0 | LMX1B CL E G H | 4010 | 6654 | ORPHA:2614 | Nail-patella syndrome | | | | 165 | | |
HP:0012633 | HP:0012633 | Asymmetry of intraocular pressure | 0 | LOXL1 CL E G H | 4016 | 6665 | OMIM:177650 | Exfoliation syndrome | . | | | 3 | | |
HP:0012633 | HP:0012633 | Asymmetry of intraocular pressure | 0 | LTBP2 CL E G H | 4053 | 6715 | OMIM:614819 | Weill-Marchesani syndrome 3 | | | | 123 | | |
HP:0012633 | HP:0012633 | Asymmetry of intraocular pressure | 0 | MYOC CL E G H | 4653 | 7610 | ORPHA:98977 | Juvenile glaucoma | | | | 47 | | |
HP:0012633 | HP:0012633 | Asymmetry of intraocular pressure | 0 | NFIA CL E G H | 4774 | 7784 | ORPHA:401986 | 1p31p32 microdeletion syndrome | | | | 12 | | |
HP:0012633 | HP:0012633 | Asymmetry of intraocular pressure | 0 | OVOL2 CL E G H | 58495 | 15804 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | | | | 4 | | |
HP:0012633 | HP:0012633 | Asymmetry of intraocular pressure | 0 | PITX3 CL E G H | 5309 | 9006 | OMIM:107250 | Anterior segment dysgenesis 1 | | | | 6 | | |
HP:0012633 | HP:0012633 | Asymmetry of intraocular pressure | 0 | PRSS56 CL E G H | 646960 | 39433 | OMIM:613517 | Microphthalmia, isolated 6 | | | | 11 | | |
HP:0012633 | HP:0012633 | Asymmetry of intraocular pressure | 0 | PXDN CL E G H | 7837 | 14966 | OMIM:269400 | Corneal opacification with other ocular anomalies | | | | 22 | | |
HP:0012633 | HP:0012633 | Asymmetry of intraocular pressure | 0 | SF3B1 CL E G H | 23451 | 10768 | ORPHA:39044 | Uveal melanoma | | | | 19 | | |
HP:0012633 | HP:0012633 | Asymmetry of intraocular pressure | 0 | SLC39A14 CL E G H | 23516 | 20858 | OMIM:144755 | Hyperostosis cranialis interna | | | | 5 | | |
HP:0012633 | HP:0012633 | Asymmetry of intraocular pressure | 0 | TEK CL E G H | 7010 | 11724 | OMIM:617272 | Glaucoma 3, primary congenital, E | | | | 78 | | |
HP:0012633 | HP:0012633 | Asymmetry of intraocular pressure | 0 | VSX1 CL E G H | 30813 | 12723 | OMIM:614195 | Craniofacial anomalies and anterior segment dysgenesis syndrome | | | | 47 | | |
HP:0012633 | HP:0012633 | Asymmetry of intraocular pressure | 0 | VSX1 CL E G H | 30813 | 12723 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | | | | 47 | | |
HP:0012633 | HP:0012633 | Asymmetry of intraocular pressure | 0 | ZEB1 CL E G H | 6935 | 11642 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | | | | 8 | | |
HP:0012633 | HP:0007906 | Ocular hypertension | 1 | ADAMTS17 CL E G H | 170691 | 17109 | OMIM:613195 | Weill-Marchesani syndrome 4 | . | | | 214 | | |
HP:0012633 | HP:0007906 | Ocular hypertension | 1 | ASB10 CL E G H | 136371 | 17185 | OMIM:603383 | GLAUCOMA 1, OPEN ANGLE, F; GLC1F | | | | 54 | | |
HP:0012633 | HP:0007906 | Ocular hypertension | 1 | ASPH CL E G H | 444 | 757 | OMIM:601552 | Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs | | | | 4 | | |
HP:0012633 | HP:0007906 | Ocular hypertension | 1 | BAP1 CL E G H | 8314 | 950 | ORPHA:39044 | Uveal melanoma | HP:0040283 - Occasional | | | 184 | | |
HP:0012633 | HP:0007906 | Ocular hypertension | 1 | C1QTNF5 CL E G H | 114902 | 14344 | ORPHA:67042 | Late-onset retinal degeneration | HP:0040284 - Very rare | | | 20 | | |
HP:0012633 | HP:0007906 | Ocular hypertension | 1 | CHST14 CL E G H | 113189 | 24464 | ORPHA:2953 | Musculocontractural Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 27 | | |
HP:0012633 | HP:0007906 | Ocular hypertension | 1 | COL18A1 CL E G H | 80781 | 2195 | OMIM:618880 | GLAUCOMA, PRIMARY CLOSED-ANGLE; GLCC | | | | 177 | | |
HP:0012633 | HP:0007906 | Ocular hypertension | 1 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:93315 | Spondylometaphyseal dysplasia, 'corner fracture' type | HP:0040284 - Very rare | | | 284 | | |
HP:0012633 | HP:0007906 | Ocular hypertension | 1 | COL8A2 CL E G H | 1296 | 2216 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | HP:0040284 - Very rare | | | 3 | | |
HP:0012633 | HP:0007906 | Ocular hypertension | 1 | CYP1B1 CL E G H | 1545 | 2597 | OMIM:231300 | Glaucoma 3, primary congenital, A | . | | | 101 | | |
HP:0012633 | HP:0007906 | Ocular hypertension | 1 | CYP1B1 CL E G H | 1545 | 2597 | ORPHA:98977 | Juvenile glaucoma | HP:0040282 - Frequent | | | 101 | | |
HP:0012633 | HP:0007906 | Ocular hypertension | 1 | CYSLTR2 CL E G H | 57105 | 18274 | ORPHA:39044 | Uveal melanoma | HP:0040283 - Occasional | | | 1 | | |
HP:0012633 | HP:0007906 | Ocular hypertension | 1 | DSE CL E G H | 29940 | 21144 | ORPHA:2953 | Musculocontractural Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0012633 | HP:0007906 | Ocular hypertension | 1 | EFEMP1 CL E G H | 2202 | 3218 | ORPHA:98977 | Juvenile glaucoma | HP:0040282 - Frequent | | | 54 | | |
HP:0012633 | HP:0007906 | Ocular hypertension | 1 | FN1 CL E G H | 2335 | 3778 | ORPHA:93315 | Spondylometaphyseal dysplasia, 'corner fracture' type | HP:0040284 - Very rare | | | 9 | | |
HP:0012633 | HP:0007906 | Ocular hypertension | 1 | FOXE3 CL E G H | 2301 | 3808 | OMIM:610256 | Anterior segment dysgenesis 2 | . | | | 23 | | |
HP:0012633 | HP:0007906 | Ocular hypertension | 1 | GNA11 CL E G H | 2767 | 4379 | ORPHA:39044 | Uveal melanoma | HP:0040283 - Occasional | | | 16 | | |
HP:0012633 | HP:0007906 | Ocular hypertension | 1 | GNAQ CL E G H | 2776 | 4390 | ORPHA:39044 | Uveal melanoma | HP:0040283 - Occasional | | | 7 | | |
HP:0012633 | HP:0007906 | Ocular hypertension | 1 | GRHL2 CL E G H | 79977 | 2799 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | HP:0040284 - Very rare | | | 33 | | |
HP:0012633 | HP:0007906 | Ocular hypertension | 1 | HLA-A CL E G H | 3105 | 4931 | ORPHA:179 | Birdshot chorioretinopathy | HP:0040281 - Very frequent | | | 4 | | |
HP:0012633 | HP:0007906 | Ocular hypertension | 1 | HMX1 CL E G H | 3166 | 5017 | OMIM:612109 | Oculoauricular syndrome | . | | | 2 | | |
HP:0012633 | HP:0007906 | Ocular hypertension | 1 | LMX1B CL E G H | 4010 | 6654 | ORPHA:2614 | Nail-patella syndrome | HP:0040283 - Occasional | | | 165 | | |
HP:0012633 | HP:0007906 | Ocular hypertension | 1 | LTBP2 CL E G H | 4053 | 6715 | OMIM:614819 | Weill-Marchesani syndrome 3 | . | | | 123 | | |
HP:0012633 | HP:0007906 | Ocular hypertension | 1 | MYOC CL E G H | 4653 | 7610 | ORPHA:98977 | Juvenile glaucoma | HP:0040282 - Frequent | | | 47 | | |
HP:0012633 | HP:0007906 | Ocular hypertension | 1 | NFIA CL E G H | 4774 | 7784 | ORPHA:401986 | 1p31p32 microdeletion syndrome | | | | 12 | | |
HP:0012633 | HP:0007906 | Ocular hypertension | 1 | OVOL2 CL E G H | 58495 | 15804 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | HP:0040284 - Very rare | | | 4 | | |
HP:0012633 | HP:0007906 | Ocular hypertension | 1 | PITX3 CL E G H | 5309 | 9006 | OMIM:107250 | Anterior segment dysgenesis 1 | . | | | 6 | | |
HP:0012633 | HP:0007906 | Ocular hypertension | 1 | PRSS56 CL E G H | 646960 | 39433 | OMIM:613517 | Microphthalmia, isolated 6 | HP:0040284 - Very rare | | | 11 | | |
HP:0012633 | HP:0007906 | Ocular hypertension | 1 | PXDN CL E G H | 7837 | 14966 | OMIM:269400 | Corneal opacification with other ocular anomalies | HP:0040283 - Occasional | | | 22 | | |
HP:0012633 | HP:0007906 | Ocular hypertension | 1 | SF3B1 CL E G H | 23451 | 10768 | ORPHA:39044 | Uveal melanoma | HP:0040283 - Occasional | | | 19 | | |
HP:0012633 | HP:0007906 | Ocular hypertension | 1 | SLC39A14 CL E G H | 23516 | 20858 | OMIM:144755 | Hyperostosis cranialis interna | HP:0040284 - Very rare | | | 5 | | |
HP:0012633 | HP:0007906 | Ocular hypertension | 1 | TEK CL E G H | 7010 | 11724 | OMIM:617272 | Glaucoma 3, primary congenital, E | . | | | 78 | | |
HP:0012633 | HP:0007906 | Ocular hypertension | 1 | VSX1 CL E G H | 30813 | 12723 | OMIM:614195 | Craniofacial anomalies and anterior segment dysgenesis syndrome | | | | 47 | | |
HP:0012633 | HP:0007906 | Ocular hypertension | 1 | VSX1 CL E G H | 30813 | 12723 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | HP:0040284 - Very rare | | | 47 | | |
HP:0012633 | HP:0007906 | Ocular hypertension | 1 | ZEB1 CL E G H | 6935 | 11642 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | HP:0040284 - Very rare | | | 8 | | |