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:0500015 | HP:0500015 | Abnormal cardiac test | 0 | AKAP9 CL E G H | 10142 | 379 | ORPHA:101016 | Romano-Ward syndrome | | | | 289 | | |
HP:0500015 | HP:0500015 | Abnormal cardiac test | 0 | ANK2 CL E G H | 287 | 493 | ORPHA:101016 | Romano-Ward syndrome | | | | 539 | | |
HP:0500015 | HP:0500015 | Abnormal cardiac test | 0 | CACNA1C CL E G H | 775 | 1390 | ORPHA:101016 | Romano-Ward syndrome | | | | 572 | | |
HP:0500015 | HP:0500015 | Abnormal cardiac test | 0 | CALM1 CL E G H | 801 | 1442 | ORPHA:101016 | Romano-Ward syndrome | | | | 18 | | |
HP:0500015 | HP:0500015 | Abnormal cardiac test | 0 | CALM2 CL E G H | 805 | 1445 | ORPHA:101016 | Romano-Ward syndrome | | | | 13 | | |
HP:0500015 | HP:0500015 | Abnormal cardiac test | 0 | CALM3 CL E G H | 808 | 1449 | ORPHA:101016 | Romano-Ward syndrome | | | | 16 | | |
HP:0500015 | HP:0500015 | Abnormal cardiac test | 0 | CAV3 CL E G H | 859 | 1529 | ORPHA:101016 | Romano-Ward syndrome | | | | 148 | | |
HP:0500015 | HP:0500015 | Abnormal cardiac test | 0 | DSG2 CL E G H | 1829 | 3049 | OMIM:610193 | Arrhythmogenic right ventricular dysplasia, familial, 10 | | | | 358 | | |
HP:0500015 | HP:0500015 | Abnormal cardiac test | 0 | KCNE1 CL E G H | 3753 | 6240 | ORPHA:101016 | Romano-Ward syndrome | | | | 148 | | |
HP:0500015 | HP:0500015 | Abnormal cardiac test | 0 | KCNE2 CL E G H | 9992 | 6242 | ORPHA:101016 | Romano-Ward syndrome | | | | 43 | | |
HP:0500015 | HP:0500015 | Abnormal cardiac test | 0 | KCNH2 CL E G H | 3757 | 6251 | ORPHA:101016 | Romano-Ward syndrome | | | | 901 | | |
HP:0500015 | HP:0500015 | Abnormal cardiac test | 0 | KCNJ5 CL E G H | 3762 | 6266 | ORPHA:101016 | Romano-Ward syndrome | | | | 128 | | |
HP:0500015 | HP:0500015 | Abnormal cardiac test | 0 | KCNQ1 CL E G H | 3784 | 6294 | ORPHA:101016 | Romano-Ward syndrome | | | | 730 | | |
HP:0500015 | HP:0500015 | Abnormal cardiac test | 0 | NOS1AP CL E G H | 9722 | 16859 | ORPHA:101016 | Romano-Ward syndrome | | | | 4 | | |
HP:0500015 | HP:0500015 | Abnormal cardiac test | 0 | NPPA CL E G H | 4878 | 7939 | ORPHA:1344 | Atrial standstill | | | | 13 | | |
HP:0500015 | HP:0500015 | Abnormal cardiac test | 0 | SCN10A CL E G H | 6336 | 10582 | ORPHA:101016 | Romano-Ward syndrome | | | | 146 | | |
HP:0500015 | HP:0500015 | Abnormal cardiac test | 0 | SCN4B CL E G H | 6330 | 10592 | ORPHA:101016 | Romano-Ward syndrome | | | | 110 | | |
HP:0500015 | HP:0500015 | Abnormal cardiac test | 0 | SCN5A CL E G H | 6331 | 10593 | ORPHA:1344 | Atrial standstill | | | | 1134 | | |
HP:0500015 | HP:0500015 | Abnormal cardiac test | 0 | SCN5A CL E G H | 6331 | 10593 | ORPHA:101016 | Romano-Ward syndrome | | | | 1134 | | |
HP:0500015 | HP:0500015 | Abnormal cardiac test | 0 | SNTA1 CL E G H | 6640 | 11167 | ORPHA:101016 | Romano-Ward syndrome | | | | 118 | | |
HP:0500015 | HP:0500015 | Abnormal cardiac test | 0 | SVIL CL E G H | 6840 | 11480 | OMIM:619040 | MYOFIBRILLAR MYOPATHY 10; MFM10 | | | | 1 | | |
HP:0500015 | HP:0500015 | Abnormal cardiac test | 0 | TBX5 CL E G H | 6910 | 11604 | ORPHA:101016 | Romano-Ward syndrome | | | | 123 | | |
HP:0500015 | HP:0500015 | Abnormal cardiac test | 0 | TRDN CL E G H | 10345 | 12261 | ORPHA:101016 | Romano-Ward syndrome | | | | 145 | | |
HP:0500015 | HP:0500015 | Abnormal cardiac test | 0 | TTR CL E G H | 7276 | 12405 | ORPHA:85451 | ATTRV122I amyloidosis | | | | 107 | | |
HP:0500015 | HP:0500016 | Abnormal cardiac MRI | 1 | CL E G H | | | | | | | | | | |
HP:0500015 | HP:0500019 | Abnormal resting energy expenditure from metabolic cart test | 1 | CL E G H | | | | | | | | | | |
HP:0500015 | HP:0500017 | Abnormal cardiac catheterization | 1 | CL E G H | | | | | | | | | | |
HP:0500015 | HP:0500018 | Abnormal cardiac exercise stress test | 1 | AKAP9 CL E G H | 10142 | 379 | ORPHA:101016 | Romano-Ward syndrome | HP:0040283 - Occasional | | | 289 | | |
HP:0500015 | HP:0500018 | Abnormal cardiac exercise stress test | 1 | ANK2 CL E G H | 287 | 493 | ORPHA:101016 | Romano-Ward syndrome | HP:0040283 - Occasional | | | 539 | | |
HP:0500015 | HP:0500018 | Abnormal cardiac exercise stress test | 1 | CACNA1C CL E G H | 775 | 1390 | ORPHA:101016 | Romano-Ward syndrome | HP:0040283 - Occasional | | | 572 | | |
HP:0500015 | HP:0500018 | Abnormal cardiac exercise stress test | 1 | CALM1 CL E G H | 801 | 1442 | ORPHA:101016 | Romano-Ward syndrome | HP:0040283 - Occasional | | | 18 | | |
HP:0500015 | HP:0500018 | Abnormal cardiac exercise stress test | 1 | CALM2 CL E G H | 805 | 1445 | ORPHA:101016 | Romano-Ward syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0500015 | HP:0500018 | Abnormal cardiac exercise stress test | 1 | CALM3 CL E G H | 808 | 1449 | ORPHA:101016 | Romano-Ward syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0500015 | HP:0500018 | Abnormal cardiac exercise stress test | 1 | CAV3 CL E G H | 859 | 1529 | ORPHA:101016 | Romano-Ward syndrome | HP:0040283 - Occasional | | | 148 | | |
HP:0500015 | HP:0500020 | Abnormal cardiac biomarker test | 1 | DSG2 CL E G H | 1829 | 3049 | OMIM:610193 | Arrhythmogenic right ventricular dysplasia, familial, 10 | | | | 358 | | |
HP:0500015 | HP:0500018 | Abnormal cardiac exercise stress test | 1 | KCNE1 CL E G H | 3753 | 6240 | ORPHA:101016 | Romano-Ward syndrome | HP:0040283 - Occasional | | | 148 | | |
HP:0500015 | HP:0500018 | Abnormal cardiac exercise stress test | 1 | KCNE2 CL E G H | 9992 | 6242 | ORPHA:101016 | Romano-Ward syndrome | HP:0040283 - Occasional | | | 43 | | |
HP:0500015 | HP:0500018 | Abnormal cardiac exercise stress test | 1 | KCNH2 CL E G H | 3757 | 6251 | ORPHA:101016 | Romano-Ward syndrome | HP:0040283 - Occasional | | | 901 | | |
HP:0500015 | HP:0500018 | Abnormal cardiac exercise stress test | 1 | KCNJ5 CL E G H | 3762 | 6266 | ORPHA:101016 | Romano-Ward syndrome | HP:0040283 - Occasional | | | 128 | | |
HP:0500015 | HP:0500018 | Abnormal cardiac exercise stress test | 1 | KCNQ1 CL E G H | 3784 | 6294 | ORPHA:101016 | Romano-Ward syndrome | HP:0040283 - Occasional | | | 730 | | |
HP:0500015 | HP:0500018 | Abnormal cardiac exercise stress test | 1 | NOS1AP CL E G H | 9722 | 16859 | ORPHA:101016 | Romano-Ward syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0500015 | HP:0500020 | Abnormal cardiac biomarker test | 1 | NPPA CL E G H | 4878 | 7939 | ORPHA:1344 | Atrial standstill | | | | 13 | | |
HP:0500015 | HP:0500018 | Abnormal cardiac exercise stress test | 1 | SCN10A CL E G H | 6336 | 10582 | ORPHA:101016 | Romano-Ward syndrome | HP:0040283 - Occasional | | | 146 | | |
HP:0500015 | HP:0500018 | Abnormal cardiac exercise stress test | 1 | SCN4B CL E G H | 6330 | 10592 | ORPHA:101016 | Romano-Ward syndrome | HP:0040283 - Occasional | | | 110 | | |
HP:0500015 | HP:0500020 | Abnormal cardiac biomarker test | 1 | SCN5A CL E G H | 6331 | 10593 | ORPHA:1344 | Atrial standstill | | | | 1134 | | |
HP:0500015 | HP:0500018 | Abnormal cardiac exercise stress test | 1 | SCN5A CL E G H | 6331 | 10593 | ORPHA:101016 | Romano-Ward syndrome | HP:0040283 - Occasional | | | 1134 | | |
HP:0500015 | HP:0500018 | Abnormal cardiac exercise stress test | 1 | SNTA1 CL E G H | 6640 | 11167 | ORPHA:101016 | Romano-Ward syndrome | HP:0040283 - Occasional | | | 118 | | |
HP:0500015 | HP:0500020 | Abnormal cardiac biomarker test | 1 | SVIL CL E G H | 6840 | 11480 | OMIM:619040 | MYOFIBRILLAR MYOPATHY 10; MFM10 | | | | 1 | | |
HP:0500015 | HP:0500018 | Abnormal cardiac exercise stress test | 1 | TBX5 CL E G H | 6910 | 11604 | ORPHA:101016 | Romano-Ward syndrome | HP:0040283 - Occasional | | | 123 | | |
HP:0500015 | HP:0500018 | Abnormal cardiac exercise stress test | 1 | TRDN CL E G H | 10345 | 12261 | ORPHA:101016 | Romano-Ward syndrome | HP:0040283 - Occasional | | | 145 | | |
HP:0500015 | HP:0500020 | Abnormal cardiac biomarker test | 1 | TTR CL E G H | 7276 | 12405 | ORPHA:85451 | ATTRV122I amyloidosis | | | | 107 | | |
HP:0500015 | HP:0410173 | Increased circulating troponin I concentration | 2 | DSG2 CL E G H | 1829 | 3049 | OMIM:610193 | Arrhythmogenic right ventricular dysplasia, familial, 10 | | | | 358 | | |
HP:0500015 | HP:0410174 | Increased circulating troponin T concentration | 2 | NPPA CL E G H | 4878 | 7939 | ORPHA:1344 | Atrial standstill | HP:0040282 - Frequent | | | 13 | | |
HP:0500015 | HP:0410174 | Increased circulating troponin T concentration | 2 | SCN5A CL E G H | 6331 | 10593 | ORPHA:1344 | Atrial standstill | HP:0040282 - Frequent | | | 1134 | | |
HP:0500015 | HP:0410173 | Increased circulating troponin I concentration | 2 | SVIL CL E G H | 6840 | 11480 | OMIM:619040 | MYOFIBRILLAR MYOPATHY 10; MFM10 | | | | 1 | | |
HP:0500015 | HP:0410174 | Increased circulating troponin T concentration | 2 | TTR CL E G H | 7276 | 12405 | ORPHA:85451 | ATTRV122I amyloidosis | | | | 107 | | |