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:0032044 | HP:0032044 | Decreased vigilance | 0 | ATP1A2 CL E G H | 477 | 800 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040283 - Occasional | | | 239 | | |
HP:0032044 | HP:0032044 | Decreased vigilance | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040283 - Occasional | | | 449 | | |
HP:0032044 | HP:0032044 | Decreased vigilance | 0 | CDKN1A CL E G H | 1026 | 1784 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 2 | | |
HP:0032044 | HP:0032044 | Decreased vigilance | 0 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 102 | | |
HP:0032044 | HP:0032044 | Decreased vigilance | 0 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 1 | | |
HP:0032044 | HP:0032044 | Decreased vigilance | 0 | CDKN2C CL E G H | 1031 | 1789 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | | | |
HP:0032044 | HP:0032044 | Decreased vigilance | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 462 | | |
HP:0032044 | HP:0032044 | Decreased vigilance | 0 | PLP1 CL E G H | 5354 | 9086 | ORPHA:280229 | Pelizaeus-Merzbacher disease in female carriers | HP:0040283 - Occasional | | | 60 | | |
HP:0032044 | HP:0032044 | Decreased vigilance | 0 | PRRT2 CL E G H | 112476 | 30500 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040283 - Occasional | | | 94 | | |
HP:0032044 | HP:0032044 | Decreased vigilance | 0 | SCN1A CL E G H | 6323 | 10585 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040283 - Occasional | | | 1053 | | |