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:0100842 | HP:0100842 | Septo-optic dysplasia | 0 | ARNT2 CL E G H | 9915 | 16876 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040281 - Very frequent | | | | | |
HP:0100842 | HP:0100842 | Septo-optic dysplasia | 0 | CDC42BPB CL E G H | 9578 | 1738 | OMIM:619841 | | | | | | | |
HP:0100842 | HP:0100842 | Septo-optic dysplasia | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:95496 | Pituitary stalk interruption syndrome | HP:0040283 - Occasional | | | 200 | | |
HP:0100842 | HP:0100842 | Septo-optic dysplasia | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040281 - Very frequent | | | 172 | | |
HP:0100842 | HP:0100842 | Septo-optic dysplasia | 0 | FOXA2 CL E G H | 3170 | 5022 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040284 - Very rare | | | | | |
HP:0100842 | HP:0100842 | Septo-optic dysplasia | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040284 - Very rare | | | 173 | | |
HP:0100842 | HP:0100842 | Septo-optic dysplasia | 0 | GPR161 CL E G H | 23432 | 23694 | ORPHA:95496 | Pituitary stalk interruption syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0100842 | HP:0100842 | Septo-optic dysplasia | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040284 - Very rare | | | 21 | | |
HP:0100842 | HP:0100842 | Septo-optic dysplasia | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:95496 | Pituitary stalk interruption syndrome | HP:0040283 - Occasional | | | 21 | | |
HP:0100842 | HP:0100842 | Septo-optic dysplasia | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040281 - Very frequent | | | 21 | | |
HP:0100842 | HP:0100842 | Septo-optic dysplasia | 0 | LHX4 CL E G H | 89884 | 21734 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040284 - Very rare | | | 43 | | |
HP:0100842 | HP:0100842 | Septo-optic dysplasia | 0 | LHX4 CL E G H | 89884 | 21734 | ORPHA:95496 | Pituitary stalk interruption syndrome | HP:0040283 - Occasional | | | 43 | | |
HP:0100842 | HP:0100842 | Septo-optic dysplasia | 0 | OTX2 CL E G H | 5015 | 8522 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040284 - Very rare | | | 41 | | |
HP:0100842 | HP:0100842 | Septo-optic dysplasia | 0 | OTX2 CL E G H | 5015 | 8522 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040281 - Very frequent | | | 41 | | |
HP:0100842 | HP:0100842 | Septo-optic dysplasia | 0 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040284 - Very rare | | | 36 | | |
HP:0100842 | HP:0100842 | Septo-optic dysplasia | 0 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:95496 | Pituitary stalk interruption syndrome | HP:0040283 - Occasional | | | 34 | | |
HP:0100842 | HP:0100842 | Septo-optic dysplasia | 0 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040281 - Very frequent | | | 34 | | |
HP:0100842 | HP:0100842 | Septo-optic dysplasia | 0 | PROP1 CL E G H | 5626 | 9455 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040284 - Very rare | | | 54 | | |
HP:0100842 | HP:0100842 | Septo-optic dysplasia | 0 | ROBO1 CL E G H | 6091 | 10249 | ORPHA:95496 | Pituitary stalk interruption syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0100842 | HP:0100842 | Septo-optic dysplasia | 0 | RSPO2 CL E G H | 340419 | 28583 | ORPHA:3301 | Tetraamelia-multiple malformations syndrome | HP:0040282 - Frequent | | | | | |
HP:0100842 | HP:0100842 | Septo-optic dysplasia | 0 | SOX2 CL E G H | 6657 | 11195 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040281 - Very frequent | | | 33 | | |
HP:0100842 | HP:0100842 | Septo-optic dysplasia | 0 | SOX3 CL E G H | 6658 | 11199 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040281 - Very frequent | | | 24 | | |
HP:0100842 | HP:0100842 | Septo-optic dysplasia | 0 | STAG2 CL E G H | 10735 | 11355 | OMIM:301043 | HOLOPROSENCEPHALY 13, X-LINKED; HPE13 | | | | 1 | | |
HP:0100842 | HP:0100842 | Septo-optic dysplasia | 0 | WDR11 CL E G H | 55717 | 13831 | ORPHA:95496 | Pituitary stalk interruption syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0100842 | HP:0100842 | Septo-optic dysplasia | 0 | WNT3 CL E G H | 7473 | 12782 | ORPHA:3301 | Tetraamelia-multiple malformations syndrome | HP:0040282 - Frequent | | | 12 | | |