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:0008275 | HP:0008275 | Abnormal light-adapted electroretinogram | 0 | ATF6 CL E G H | 22926 | 791 | ORPHA:49382 | Achromatopsia | | | | 10 | | |
HP:0008275 | HP:0008275 | Abnormal light-adapted electroretinogram | 0 | CACNA1F CL E G H | 778 | 1393 | OMIM:300071 | Night blindness, congenital stationary, type 2A | | | | 58 | | |
HP:0008275 | HP:0008275 | Abnormal light-adapted electroretinogram | 0 | CNGA3 CL E G H | 1261 | 2150 | ORPHA:49382 | Achromatopsia | | | | 82 | | |
HP:0008275 | HP:0008275 | Abnormal light-adapted electroretinogram | 0 | CNGA3 CL E G H | 1261 | 2150 | OMIM:216900 | Achromatopsia 2 | | | | 82 | | |
HP:0008275 | HP:0008275 | Abnormal light-adapted electroretinogram | 0 | CNGB3 CL E G H | 54714 | 2153 | ORPHA:49382 | Achromatopsia | | | | 194 | | |
HP:0008275 | HP:0008275 | Abnormal light-adapted electroretinogram | 0 | GNAT2 CL E G H | 2780 | 4394 | ORPHA:49382 | Achromatopsia | | | | 19 | | |
HP:0008275 | HP:0008275 | Abnormal light-adapted electroretinogram | 0 | KIF3B CL E G H | 9371 | 6320 | OMIM:618955 | RETINITIS PIGMENTOSA 89; RP89 | | | | | | |
HP:0008275 | HP:0008275 | Abnormal light-adapted electroretinogram | 0 | OPN1SW CL E G H | 611 | 1012 | OMIM:190900 | TRITANOPIA | . | | | 3 | | |
HP:0008275 | HP:0008275 | Abnormal light-adapted electroretinogram | 0 | PDE6C CL E G H | 5146 | 8787 | ORPHA:49382 | Achromatopsia | | | | 80 | | |
HP:0008275 | HP:0008275 | Abnormal light-adapted electroretinogram | 0 | PDE6H CL E G H | 5149 | 8790 | ORPHA:49382 | Achromatopsia | | | | 14 | | |
HP:0008275 | HP:0008275 | Abnormal light-adapted electroretinogram | 0 | PDE6H CL E G H | 5149 | 8790 | OMIM:610024 | Retinal cone dystrophy 3A | | | | 14 | | |
HP:0008275 | HP:0008275 | Abnormal light-adapted electroretinogram | 0 | RPGR CL E G H | 6103 | 10295 | ORPHA:49382 | Achromatopsia | | | | 200 | | |
HP:0008275 | HP:0030472 | Abnormal light-adapted single flash electroretinogram | 1 | CL E G H | | | | | | | | | | |
HP:0008275 | HP:0030465 | Undetectable light-adapted electroretinogram | 1 | ATF6 CL E G H | 22926 | 791 | ORPHA:49382 | Achromatopsia | HP:0040281 - Very frequent | | | 10 | | |
HP:0008275 | HP:0030473 | Abnormal light-adapted flicker electroretinogram | 1 | CACNA1F CL E G H | 778 | 1393 | OMIM:300071 | Night blindness, congenital stationary, type 2A | | | | 58 | | |
HP:0008275 | HP:0030465 | Undetectable light-adapted electroretinogram | 1 | CNGA3 CL E G H | 1261 | 2150 | ORPHA:49382 | Achromatopsia | HP:0040281 - Very frequent | | | 82 | | |
HP:0008275 | HP:0030465 | Undetectable light-adapted electroretinogram | 1 | CNGA3 CL E G H | 1261 | 2150 | OMIM:216900 | Achromatopsia 2 | | | | 82 | | |
HP:0008275 | HP:0030465 | Undetectable light-adapted electroretinogram | 1 | CNGB3 CL E G H | 54714 | 2153 | ORPHA:49382 | Achromatopsia | HP:0040281 - Very frequent | | | 194 | | |
HP:0008275 | HP:0030465 | Undetectable light-adapted electroretinogram | 1 | GNAT2 CL E G H | 2780 | 4394 | ORPHA:49382 | Achromatopsia | HP:0040281 - Very frequent | | | 19 | | |
HP:0008275 | HP:0030473 | Abnormal light-adapted flicker electroretinogram | 1 | KIF3B CL E G H | 9371 | 6320 | OMIM:618955 | RETINITIS PIGMENTOSA 89; RP89 | | | | | | |
HP:0008275 | HP:0030465 | Undetectable light-adapted electroretinogram | 1 | PDE6C CL E G H | 5146 | 8787 | ORPHA:49382 | Achromatopsia | HP:0040281 - Very frequent | | | 80 | | |
HP:0008275 | HP:0030465 | Undetectable light-adapted electroretinogram | 1 | PDE6H CL E G H | 5149 | 8790 | ORPHA:49382 | Achromatopsia | HP:0040281 - Very frequent | | | 14 | | |
HP:0008275 | HP:0030473 | Abnormal light-adapted flicker electroretinogram | 1 | PDE6H CL E G H | 5149 | 8790 | OMIM:610024 | Retinal cone dystrophy 3A | | | | 14 | | |
HP:0008275 | HP:0030465 | Undetectable light-adapted electroretinogram | 1 | RPGR CL E G H | 6103 | 10295 | ORPHA:49382 | Achromatopsia | HP:0040281 - Very frequent | | | 200 | | |
HP:0008275 | HP:0030482 | Abnormal timing of light-adapted single flash electroretinogram | 2 | CL E G H | | | | | | | | | | |
HP:0008275 | HP:0030481 | Abnormal amplitude of light-adapted single flash electroretinogram | 2 | CL E G H | | | | | | | | | | |
HP:0008275 | HP:0030480 | Abnormal timing of light-adapted flicker electroretinogram | 2 | CL E G H | | | | | | | | | | |
HP:0008275 | HP:0030479 | Abnormal amplitude of light-adapted flicker electroretinogram | 2 | CACNA1F CL E G H | 778 | 1393 | OMIM:300071 | Night blindness, congenital stationary, type 2A | | | | 58 | | |