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:0100786 | HP:0100786 | Hypersomnia | 0 | AIP CL E G H | 9049 | 358 | ORPHA:963 | Acromegaly | HP:0040283 - Occasional | | | 95 | | |
HP:0100786 | HP:0100786 | Hypersomnia | 0 | DUOX2 CL E G H | 50506 | 13273 | ORPHA:226316 | Genetic transient congenital hypothyroidism | HP:0040283 - Occasional | | | 121 | | |
HP:0100786 | HP:0100786 | Hypersomnia | 0 | FOXE1 CL E G H | 2304 | 3806 | ORPHA:95713 | Athyreosis | HP:0040281 - Very frequent | | | 9 | | |
HP:0100786 | HP:0100786 | Hypersomnia | 0 | GPR101 CL E G H | 83550 | 14963 | ORPHA:963 | Acromegaly | HP:0040283 - Occasional | | | 5 | | |
HP:0100786 | HP:0100786 | Hypersomnia | 0 | HEXB CL E G H | 3074 | 4879 | ORPHA:309162 | Sandhoff disease, juvenile form | | | | 80 | | |
HP:0100786 | HP:0100786 | Hypersomnia | 0 | NKX2-1 CL E G H | 7080 | 11825 | ORPHA:95713 | Athyreosis | HP:0040281 - Very frequent | | | 51 | | |
HP:0100786 | HP:0100786 | Hypersomnia | 0 | NKX2-5 CL E G H | 1482 | 2488 | ORPHA:95713 | Athyreosis | HP:0040281 - Very frequent | | | 90 | | |
HP:0100786 | HP:0100786 | Hypersomnia | 0 | NKX2-5 CL E G H | 1482 | 2488 | ORPHA:95712 | Thyroid ectopia | HP:0040281 - Very frequent | | | 90 | | |
HP:0100786 | HP:0100786 | Hypersomnia | 0 | PAX8 CL E G H | 7849 | 8622 | ORPHA:95713 | Athyreosis | HP:0040281 - Very frequent | | | 63 | | |
HP:0100786 | HP:0100786 | Hypersomnia | 0 | PAX8 CL E G H | 7849 | 8622 | ORPHA:95712 | Thyroid ectopia | HP:0040281 - Very frequent | | | 63 | | |
HP:0100786 | HP:0100786 | Hypersomnia | 0 | PRNP CL E G H | 5621 | 9449 | ORPHA:282166 | Inherited Creutzfeldt-Jakob disease | HP:0040282 - Frequent | | | 69 | | |
HP:0100786 | HP:0100786 | Hypersomnia | 0 | PRR12 CL E G H | 57479 | 29217 | OMIM:619539 | NEUROOCULAR SYNDROME; NOC | | | | 1 | | |
HP:0100786 | HP:0100786 | Hypersomnia | 0 | SLC26A4 CL E G H | 5172 | 8818 | ORPHA:95713 | Athyreosis | HP:0040281 - Very frequent | | | 274 | | |
HP:0100786 | HP:0100786 | Hypersomnia | 0 | TDP2 CL E G H | 51567 | 17768 | OMIM:616949 | Spinocerebellar ataxia, autosomal recessive 23 | . | | | 3 | | |
HP:0100786 | HP:0100786 | Hypersomnia | 0 | TSHR CL E G H | 7253 | 12373 | ORPHA:95713 | Athyreosis | HP:0040281 - Very frequent | | | 97 | | |
HP:0100786 | HP:0007200 | Episodic hypersomnia | 1 | CL E G H | | | | | | | | | | |