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:0012232 | HP:0012232 | Shortened QT interval | 0 | CACNA1C CL E G H | 775 | 1390 | OMIM:611875 | BRUGADA SYNDROME 3; BRGDA3 | | | | 572 | | |
HP:0012232 | HP:0012232 | Shortened QT interval | 0 | CACNA2D1 CL E G H | 781 | 1399 | ORPHA:51083 | Familial short QT syndrome | HP:0040280 - Obligate | | | 59 | | |
HP:0012232 | HP:0012232 | Shortened QT interval | 0 | CACNB2 CL E G H | 783 | 1402 | OMIM:611876 | BRUGADA SYNDROME 4; BRGDA4 | | | | 206 | | |
HP:0012232 | HP:0012232 | Shortened QT interval | 0 | CDC73 CL E G H | 79577 | 16783 | ORPHA:99880 | Hyperparathyroidism-jaw tumor syndrome | HP:0040282 - Frequent | | | 169 | | |
HP:0012232 | HP:0012232 | Shortened QT interval | 0 | CDC73 CL E G H | 79577 | 16783 | ORPHA:143 | Parathyroid carcinoma | HP:0040282 - Frequent | | | 169 | | |
HP:0012232 | HP:0012232 | Shortened QT interval | 0 | CDKN1A CL E G H | 1026 | 1784 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 2 | | |
HP:0012232 | HP:0012232 | Shortened QT interval | 0 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 102 | | |
HP:0012232 | HP:0012232 | Shortened QT interval | 0 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 1 | | |
HP:0012232 | HP:0012232 | Shortened QT interval | 0 | CDKN2C CL E G H | 1031 | 1789 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | | | |
HP:0012232 | HP:0012232 | Shortened QT interval | 0 | KCNH2 CL E G H | 3757 | 6251 | ORPHA:51083 | Familial short QT syndrome | HP:0040280 - Obligate | | | 901 | | |
HP:0012232 | HP:0012232 | Shortened QT interval | 0 | KCNH2 CL E G H | 3757 | 6251 | OMIM:609620 | SHORT QT SYNDROME 1; SQT1 | | | | 901 | | |
HP:0012232 | HP:0012232 | Shortened QT interval | 0 | KCNJ2 CL E G H | 3759 | 6263 | ORPHA:51083 | Familial short QT syndrome | HP:0040280 - Obligate | | | 193 | | |
HP:0012232 | HP:0012232 | Shortened QT interval | 0 | KCNJ2 CL E G H | 3759 | 6263 | OMIM:609622 | SHORT QT SYNDROME 3; SQT3 | | | | 193 | | |
HP:0012232 | HP:0012232 | Shortened QT interval | 0 | KCNQ1 CL E G H | 3784 | 6294 | ORPHA:51083 | Familial short QT syndrome | HP:0040280 - Obligate | | | 730 | | |
HP:0012232 | HP:0012232 | Shortened QT interval | 0 | KCNQ1 CL E G H | 3784 | 6294 | OMIM:609621 | Short QT syndrome 2 | | | | 730 | | |
HP:0012232 | HP:0012232 | Shortened QT interval | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 462 | | |
HP:0012232 | HP:0012232 | Shortened QT interval | 0 | SLC4A3 CL E G H | 6508 | 11029 | ORPHA:51083 | Familial short QT syndrome | HP:0040280 - Obligate | | | 7 | | |