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:0000622 | HP:0000622 | Blurred vision | 0 | ABCA1 CL E G H | 19 | 29 | ORPHA:425 | Apolipoprotein A-I deficiency | HP:0040282 - Frequent | | | 191 | | |
HP:0000622 | HP:0000622 | Blurred vision | 0 | APOA1 CL E G H | 335 | 600 | ORPHA:425 | Apolipoprotein A-I deficiency | HP:0040282 - Frequent | | | 40 | | |
HP:0000622 | HP:0000622 | Blurred vision | 0 | ATP1A2 CL E G H | 477 | 800 | OMIM:602481 | Migraine, familial hemiplegic, 2 | . | | | 239 | | |
HP:0000622 | HP:0000622 | Blurred vision | 0 | ATP6 CL E G H | 4508 | 7414 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040282 - Frequent | | | | | |
HP:0000622 | HP:0000622 | Blurred vision | 0 | CACNA1A CL E G H | 773 | 1388 | OMIM:141500 | Migraine, familial hemiplegic, 1 | | | | 449 | | |
HP:0000622 | HP:0000622 | Blurred vision | 0 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:358 | Gitelman syndrome | HP:0040284 - Very rare | | | 27 | | |
HP:0000622 | HP:0000622 | Blurred vision | 0 | COL17A1 CL E G H | 1308 | 2194 | ORPHA:293381 | Epithelial recurrent erosion dystrophy | HP:0040282 - Frequent | | | 129 | | |
HP:0000622 | HP:0000622 | Blurred vision | 0 | COL4A1 CL E G H | 1282 | 2202 | OMIM:175780 | Brain small vessel disease 1 with or without ocular anomalies | . | | | 193 | | |
HP:0000622 | HP:0000622 | Blurred vision | 0 | COL8A2 CL E G H | 1296 | 2216 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | HP:0040284 - Very rare | | | 3 | | |
HP:0000622 | HP:0000622 | Blurred vision | 0 | COX1 CL E G H | 4512 | 7419 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040282 - Frequent | | | | | |
HP:0000622 | HP:0000622 | Blurred vision | 0 | COX3 CL E G H | 4514 | 7422 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040282 - Frequent | | | | | |
HP:0000622 | HP:0000622 | Blurred vision | 0 | CYTB CL E G H | 4519 | 7427 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040282 - Frequent | | | | | |
HP:0000622 | HP:0000622 | Blurred vision | 0 | DBH CL E G H | 1621 | 2689 | ORPHA:230 | Dopamine beta-hydroxylase deficiency | HP:0040283 - Occasional | | | 80 | | |
HP:0000622 | HP:0000622 | Blurred vision | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040282 - Frequent | | | | | |
HP:0000622 | HP:0000622 | Blurred vision | 0 | GRHL2 CL E G H | 79977 | 2799 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | HP:0040284 - Very rare | | | 33 | | |
HP:0000622 | HP:0000622 | Blurred vision | 0 | HLA-A CL E G H | 3105 | 4931 | ORPHA:179 | Birdshot chorioretinopathy | HP:0040282 - Frequent | | | 4 | | |
HP:0000622 | HP:0000622 | Blurred vision | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | OMIM:181000 | Sarcoidosis, susceptibility to, 1 | . | | | 2 | | |
HP:0000622 | HP:0000622 | Blurred vision | 0 | KCNA1 CL E G H | 3736 | 6218 | ORPHA:37612 | Episodic ataxia type 1 | HP:0040282 - Frequent | | | 145 | | |
HP:0000622 | HP:0000622 | Blurred vision | 0 | KCNA1 CL E G H | 3736 | 6218 | OMIM:160120 | Episodic ataxia, type 1 | . | | | 145 | | |
HP:0000622 | HP:0000622 | Blurred vision | 0 | LCA5 CL E G H | 167691 | 31923 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040283 - Occasional | | | 70 | | |
HP:0000622 | HP:0000622 | Blurred vision | 0 | LRAT CL E G H | 9227 | 6685 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040283 - Occasional | | | 62 | | |
HP:0000622 | HP:0000622 | Blurred vision | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:240071 | Classic progressive supranuclear palsy syndrome | HP:0040282 - Frequent | | | 140 | | |
HP:0000622 | HP:0000622 | Blurred vision | 0 | MAPT CL E G H | 4137 | 6893 | OMIM:601104 | Supranuclear palsy, progressive, 1 | . | | | 140 | | |
HP:0000622 | HP:0000622 | Blurred vision | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040282 - Frequent | | | | | |
HP:0000622 | HP:0000622 | Blurred vision | 0 | ND2 CL E G H | 4536 | 7456 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040282 - Frequent | | | | | |
HP:0000622 | HP:0000622 | Blurred vision | 0 | ND4 CL E G H | 4538 | 7459 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040282 - Frequent | | | | | |
HP:0000622 | HP:0000622 | Blurred vision | 0 | ND4L CL E G H | 4539 | 7460 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040282 - Frequent | | | | | |
HP:0000622 | HP:0000622 | Blurred vision | 0 | ND5 CL E G H | 4540 | 7461 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040282 - Frequent | | | | | |
HP:0000622 | HP:0000622 | Blurred vision | 0 | ND6 CL E G H | 4541 | 7462 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040282 - Frequent | | | | | |
HP:0000622 | HP:0000622 | Blurred vision | 0 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040282 - Frequent | | | 65 | | |
HP:0000622 | HP:0000622 | Blurred vision | 0 | NLRP3 CL E G H | 114548 | 16400 | OMIM:148200 | Keratoendotheliitis fugax hereditaria | . | | | 217 | | |
HP:0000622 | HP:0000622 | Blurred vision | 0 | NOP56 CL E G H | 10528 | 15911 | ORPHA:276198 | Spinocerebellar ataxia type 36 | HP:0040282 - Frequent | | | 9 | | |
HP:0000622 | HP:0000622 | Blurred vision | 0 | OVOL2 CL E G H | 58495 | 15804 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | HP:0040284 - Very rare | | | 4 | | |
HP:0000622 | HP:0000622 | Blurred vision | 0 | RPE65 CL E G H | 6121 | 10294 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040283 - Occasional | | | 129 | | |
HP:0000622 | HP:0000622 | Blurred vision | 0 | SCN4A CL E G H | 6329 | 10591 | ORPHA:99734 | Myotonia fluctuans | HP:0040283 - Occasional | | | 263 | | |
HP:0000622 | HP:0000622 | Blurred vision | 0 | SCN9A CL E G H | 6335 | 10597 | OMIM:133020 | Erythermalgia, primary | . | | | 318 | | |
HP:0000622 | HP:0000622 | Blurred vision | 0 | SLC12A3 CL E G H | 6559 | 10912 | OMIM:263800 | Gitelman syndrome | | | | 145 | | |
HP:0000622 | HP:0000622 | Blurred vision | 0 | SLC12A3 CL E G H | 6559 | 10912 | ORPHA:358 | Gitelman syndrome | HP:0040284 - Very rare | | | 145 | | |
HP:0000622 | HP:0000622 | Blurred vision | 0 | SLC4A11 CL E G H | 83959 | 16438 | ORPHA:293603 | Congenital hereditary endothelial dystrophy type II | HP:0040282 - Frequent | | | 66 | | |
HP:0000622 | HP:0000622 | Blurred vision | 0 | SOST CL E G H | 50964 | 13771 | OMIM:269500 | Sclerosteosis 1 | | | | 26 | | |
HP:0000622 | HP:0000622 | Blurred vision | 0 | SPATA7 CL E G H | 55812 | 20423 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040283 - Occasional | | | 48 | | |
HP:0000622 | HP:0000622 | Blurred vision | 0 | TACSTD2 CL E G H | 4070 | 11530 | OMIM:204870 | Corneal dystrophy, gelatinous drop-like | . | | | 42 | | |
HP:0000622 | HP:0000622 | Blurred vision | 0 | TGFBI CL E G H | 7045 | 11771 | ORPHA:98963 | Granular corneal dystrophy type II | | | | 58 | | |
HP:0000622 | HP:0000622 | Blurred vision | 0 | VSX1 CL E G H | 30813 | 12723 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | HP:0040284 - Very rare | | | 47 | | |
HP:0000622 | HP:0000622 | Blurred vision | 0 | ZEB1 CL E G H | 6935 | 11642 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | HP:0040284 - Very rare | | | 8 | | |
HP:0000622 | HP:0001125 | Transient unilateral blurring of vision | 1 | ATP1A2 CL E G H | 477 | 800 | OMIM:602481 | Migraine, familial hemiplegic, 2 | . | | | 239 | | |
HP:0000622 | HP:0001125 | Transient unilateral blurring of vision | 1 | CACNA1A CL E G H | 773 | 1388 | OMIM:141500 | Migraine, familial hemiplegic, 1 | . | | | 449 | | |