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:0007769 | HP:0007769 | Peripheral retinal degeneration | 0 | CFH CL E G H | 3075 | 4883 | ORPHA:75376 | Familial drusen | | | | 86 | | |
HP:0007769 | HP:0007769 | Peripheral retinal degeneration | 0 | CFI CL E G H | 3426 | 5394 | ORPHA:75376 | Familial drusen | | | | 57 | | |
HP:0007769 | HP:0007769 | Peripheral retinal degeneration | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:485 | Kniest dysplasia | | | | 284 | | |
HP:0007769 | HP:0007769 | Peripheral retinal degeneration | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:619248 | VITREORETINOPATHY WITH PHALANGEAL EPIPHYSEAL DYSPLASIA; VPED | | | | 284 | | |
HP:0007769 | HP:0007769 | Peripheral retinal degeneration | 0 | EFEMP1 CL E G H | 2202 | 3218 | OMIM:126600 | Doyne honeycomb retinal dystrophy | | | | 54 | | |
HP:0007769 | HP:0007769 | Peripheral retinal degeneration | 0 | EFEMP1 CL E G H | 2202 | 3218 | ORPHA:75376 | Familial drusen | | | | 54 | | |
HP:0007769 | HP:0007769 | Peripheral retinal degeneration | 0 | KCNJ13 CL E G H | 3769 | 6259 | OMIM:193230 | Snowflake vitreoretinal degeneration | | | | 42 | | |
HP:0007769 | HP:0007769 | Peripheral retinal degeneration | 0 | P3H2 CL E G H | 55214 | 19317 | OMIM:614292 | Myopia, high, with cataract and vitreoretinal degeneration | | | | 5 | | |
HP:0007769 | HP:0007769 | Peripheral retinal degeneration | 0 | POU3F4 CL E G H | 5456 | 9217 | ORPHA:1435 | Xq21 microdeletion syndrome | | | | 40 | | |
HP:0007769 | HP:0007769 | Peripheral retinal degeneration | 0 | RS1 CL E G H | 6247 | 10457 | OMIM:312700 | Retinoschisis 1, X-linked, juvenile | | | | 148 | | |
HP:0007769 | HP:0007937 | Reticular pigmentary degeneration | 1 | CFH CL E G H | 3075 | 4883 | ORPHA:75376 | Familial drusen | HP:0040281 - Very frequent | | | 86 | | |
HP:0007769 | HP:0007937 | Reticular pigmentary degeneration | 1 | CFI CL E G H | 3426 | 5394 | ORPHA:75376 | Familial drusen | HP:0040281 - Very frequent | | | 57 | | |
HP:0007769 | HP:0007992 | Lattice retinal degeneration | 1 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:485 | Kniest dysplasia | HP:0040282 - Frequent | | | 284 | | |
HP:0007769 | HP:0007992 | Lattice retinal degeneration | 1 | COL2A1 CL E G H | 1280 | 2200 | OMIM:619248 | VITREORETINOPATHY WITH PHALANGEAL EPIPHYSEAL DYSPLASIA; VPED | | | | 284 | | |
HP:0007769 | HP:0007937 | Reticular pigmentary degeneration | 1 | EFEMP1 CL E G H | 2202 | 3218 | OMIM:126600 | Doyne honeycomb retinal dystrophy | . | | | 54 | | |
HP:0007769 | HP:0007937 | Reticular pigmentary degeneration | 1 | EFEMP1 CL E G H | 2202 | 3218 | ORPHA:75376 | Familial drusen | HP:0040281 - Very frequent | | | 54 | | |
HP:0007769 | HP:0011533 | Snowflake vitreoretinal degeneration | 1 | KCNJ13 CL E G H | 3769 | 6259 | OMIM:193230 | Snowflake vitreoretinal degeneration | | | | 42 | | |
HP:0007769 | HP:0007992 | Lattice retinal degeneration | 1 | P3H2 CL E G H | 55214 | 19317 | OMIM:614292 | Myopia, high, with cataract and vitreoretinal degeneration | | | | 5 | | |
HP:0007769 | HP:0007937 | Reticular pigmentary degeneration | 1 | POU3F4 CL E G H | 5456 | 9217 | ORPHA:1435 | Xq21 microdeletion syndrome | HP:0040282 - Frequent | | | 40 | | |
HP:0007769 | HP:0007667 | Peripheral cystoid retinal degeneration | 1 | RS1 CL E G H | 6247 | 10457 | OMIM:312700 | Retinoschisis 1, X-linked, juvenile | . | | | 148 | | |