Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0030584 | HP:0030584 | Color vision test abnormality | 0 | AFG3L2 CL E G H | 10939 | 315 | OMIM:618977 | OPTIC ATROPHY 12; OPA12 | | | | 86 | | |
HP:0030584 | HP:0030584 | Color vision test abnormality | 0 | ATF6 CL E G H | 22926 | 791 | ORPHA:49382 | Achromatopsia | HP:0040281 - Very frequent | | | 10 | | |
HP:0030584 | HP:0030584 | Color vision test abnormality | 0 | CNGA3 CL E G H | 1261 | 2150 | ORPHA:49382 | Achromatopsia | HP:0040281 - Very frequent | | | 82 | | |
HP:0030584 | HP:0030584 | Color vision test abnormality | 0 | CNGB3 CL E G H | 54714 | 2153 | ORPHA:49382 | Achromatopsia | HP:0040281 - Very frequent | | | 194 | | |
HP:0030584 | HP:0030584 | Color vision test abnormality | 0 | FA2H CL E G H | 79152 | 21197 | ORPHA:329308 | Fatty acid hydroxylase-associated neurodegeneration | HP:0040282 - Frequent | | | 76 | | |
HP:0030584 | HP:0030584 | Color vision test abnormality | 0 | GNAT2 CL E G H | 2780 | 4394 | ORPHA:49382 | Achromatopsia | HP:0040281 - Very frequent | | | 19 | | |
HP:0030584 | HP:0030584 | Color vision test abnormality | 0 | OPN1SW CL E G H | 611 | 1012 | ORPHA:88629 | Tritanopia | HP:0040282 - Frequent | | | 3 | | |
HP:0030584 | HP:0030584 | Color vision test abnormality | 0 | PDE6C CL E G H | 5146 | 8787 | ORPHA:49382 | Achromatopsia | HP:0040281 - Very frequent | | | 80 | | |
HP:0030584 | HP:0030584 | Color vision test abnormality | 0 | PDE6H CL E G H | 5149 | 8790 | ORPHA:49382 | Achromatopsia | HP:0040281 - Very frequent | | | 14 | | |
HP:0030584 | HP:0030584 | Color vision test abnormality | 0 | RPGR CL E G H | 6103 | 10295 | ORPHA:49382 | Achromatopsia | HP:0040281 - Very frequent | | | 200 | | |
HP:0030584 | HP:0030587 | Abnormal Hardy-Rand-Rittler plate test | 1 | CL E G H | | | | | | | | | | |
HP:0030584 | HP:0030585 | Red desaturation | 1 | CL E G H | | | | | | | | | | |
HP:0030584 | HP:0030586 | Abnormal Ishihara plate test | 1 | AFG3L2 CL E G H | 10939 | 315 | OMIM:618977 | OPTIC ATROPHY 12; OPA12 | | | | 86 | | |