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:0012511 | HP:0012511 | Temporal optic disc pallor | 0 | CYP1B1 CL E G H | 1545 | 2597 | ORPHA:98977 | Juvenile glaucoma | HP:0040283 - Occasional | | | 101 | | |
HP:0012511 | HP:0012511 | Temporal optic disc pallor | 0 | DNM1L CL E G H | 10059 | 2973 | ORPHA:98673 | Autosomal dominant optic atrophy, classic form | HP:0040282 - Frequent | | | 94 | | |
HP:0012511 | HP:0012511 | Temporal optic disc pallor | 0 | EFEMP1 CL E G H | 2202 | 3218 | ORPHA:98977 | Juvenile glaucoma | HP:0040283 - Occasional | | | 54 | | |
HP:0012511 | HP:0012511 | Temporal optic disc pallor | 0 | MAG CL E G H | 4099 | 6783 | ORPHA:459056 | Autosomal recessive spastic paraplegia type 75 | HP:0040282 - Frequent | | | 4 | | |
HP:0012511 | HP:0012511 | Temporal optic disc pallor | 0 | MYOC CL E G H | 4653 | 7610 | ORPHA:98977 | Juvenile glaucoma | HP:0040283 - Occasional | | | 47 | | |
HP:0012511 | HP:0012511 | Temporal optic disc pallor | 0 | OPA1 CL E G H | 4976 | 8140 | ORPHA:1215 | Autosomal dominant optic atrophy plus syndrome | HP:0040283 - Occasional | | | 214 | | |
HP:0012511 | HP:0012511 | Temporal optic disc pallor | 0 | OPA1 CL E G H | 4976 | 8140 | ORPHA:98673 | Autosomal dominant optic atrophy, classic form | HP:0040282 - Frequent | | | 214 | | |
HP:0012511 | HP:0500086 | Optic nerve gray crescent | 1 | CL E G H | | | | | | | | | | |