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:0025580 | HP:0025580 | Abnormal right atrium morphology | 0 | ABCC6 CL E G H | 368 | 57 | OMIM:614473 | Arterial calcification, generalized, of infancy, 2 | | | | 415 | | |
HP:0025580 | HP:0025580 | Abnormal right atrium morphology | 0 | ACTC1 CL E G H | 70 | 143 | ORPHA:99103 | Atrial septal defect, ostium secundum type | | | | 208 | | |
HP:0025580 | HP:0025580 | Abnormal right atrium morphology | 0 | BANF1 CL E G H | 8815 | 17397 | OMIM:614008 | Nestor-Guillermo progeria syndrome | | | | 22 | | |
HP:0025580 | HP:0025580 | Abnormal right atrium morphology | 0 | CITED2 CL E G H | 10370 | 1987 | ORPHA:99103 | Atrial septal defect, ostium secundum type | | | | 5 | | |
HP:0025580 | HP:0025580 | Abnormal right atrium morphology | 0 | FLNA CL E G H | 2316 | 3754 | ORPHA:555877 | FLNA-related X-linked myxomatous valvular dysplasia | | | | 493 | | |
HP:0025580 | HP:0025580 | Abnormal right atrium morphology | 0 | FLNC CL E G H | 2318 | 3756 | OMIM:617047 | Cardiomyopathy, familial hypertrophic, 26 | | | | 197 | | |
HP:0025580 | HP:0025580 | Abnormal right atrium morphology | 0 | FLNC CL E G H | 2318 | 3756 | ORPHA:75249 | Familial isolated restrictive cardiomyopathy | | | | 197 | | |
HP:0025580 | HP:0025580 | Abnormal right atrium morphology | 0 | GATA4 CL E G H | 2626 | 4173 | ORPHA:99103 | Atrial septal defect, ostium secundum type | | | | 87 | | |
HP:0025580 | HP:0025580 | Abnormal right atrium morphology | 0 | GATA6 CL E G H | 2627 | 4174 | ORPHA:99103 | Atrial septal defect, ostium secundum type | | | | 37 | | |
HP:0025580 | HP:0025580 | Abnormal right atrium morphology | 0 | KIF20A CL E G H | 10112 | 9787 | ORPHA:75249 | Familial isolated restrictive cardiomyopathy | | | | | | |
HP:0025580 | HP:0025580 | Abnormal right atrium morphology | 0 | MCM10 CL E G H | 55388 | 18043 | OMIM:619313 | IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80 | | | | | | |
HP:0025580 | HP:0025580 | Abnormal right atrium morphology | 0 | MYBPC3 CL E G H | 4607 | 7551 | OMIM:115197 | Cardiomyopathy, familial hypertrophic, 4 | | | | 1143 | | |
HP:0025580 | HP:0025580 | Abnormal right atrium morphology | 0 | MYH6 CL E G H | 4624 | 7576 | ORPHA:99103 | Atrial septal defect, ostium secundum type | | | | 452 | | |
HP:0025580 | HP:0025580 | Abnormal right atrium morphology | 0 | MYL2 CL E G H | 4633 | 7583 | OMIM:619424 | MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12 | | | | 131 | | |
HP:0025580 | HP:0025580 | Abnormal right atrium morphology | 0 | MYPN CL E G H | 84665 | 23246 | ORPHA:75249 | Familial isolated restrictive cardiomyopathy | | | | 217 | | |
HP:0025580 | HP:0025580 | Abnormal right atrium morphology | 0 | NKX2-5 CL E G H | 1482 | 2488 | ORPHA:99103 | Atrial septal defect, ostium secundum type | | | | 90 | | |
HP:0025580 | HP:0025580 | Abnormal right atrium morphology | 0 | NOTCH1 CL E G H | 4851 | 7881 | OMIM:616028 | Adams-Oliver syndrome 5 | | | | 452 | | |
HP:0025580 | HP:0025580 | Abnormal right atrium morphology | 0 | RPL3L CL E G H | 6123 | 10351 | OMIM:619371 | CARDIOMYOPATHY, DILATED, 2D; CMD2D | | | | | | |
HP:0025580 | HP:0025580 | Abnormal right atrium morphology | 0 | TBX20 CL E G H | 57057 | 11598 | ORPHA:99103 | Atrial septal defect, ostium secundum type | | | | 20 | | |
HP:0025580 | HP:0025580 | Abnormal right atrium morphology | 0 | TLL1 CL E G H | 7092 | 11843 | ORPHA:99106 | Atrial septal defect, ostium primum type | | | | 6 | | |
HP:0025580 | HP:0025580 | Abnormal right atrium morphology | 0 | TLL1 CL E G H | 7092 | 11843 | ORPHA:99103 | Atrial septal defect, ostium secundum type | | | | 6 | | |
HP:0025580 | HP:0025580 | Abnormal right atrium morphology | 0 | TNNI3 CL E G H | 7137 | 11947 | ORPHA:75249 | Familial isolated restrictive cardiomyopathy | | | | 180 | | |
HP:0025580 | HP:0025580 | Abnormal right atrium morphology | 0 | TNNT2 CL E G H | 7139 | 11949 | ORPHA:75249 | Familial isolated restrictive cardiomyopathy | | | | 248 | | |
HP:0025580 | HP:0031294 | Hypoplastic right atrium | 1 | CL E G H | | | | | | | | | | |
HP:0025580 | HP:0033138 | Right atrial thrombus | 1 | CL E G H | | | | | | | | | | |
HP:0025580 | HP:0030718 | Right atrial enlargement | 1 | ABCC6 CL E G H | 368 | 57 | OMIM:614473 | Arterial calcification, generalized, of infancy, 2 | | | | 415 | | |
HP:0025580 | HP:0030718 | Right atrial enlargement | 1 | ACTC1 CL E G H | 70 | 143 | ORPHA:99103 | Atrial septal defect, ostium secundum type | HP:0040282 - Frequent | | | 208 | | |
HP:0025580 | HP:0030718 | Right atrial enlargement | 1 | BANF1 CL E G H | 8815 | 17397 | OMIM:614008 | Nestor-Guillermo progeria syndrome | | | | 22 | | |
HP:0025580 | HP:0030718 | Right atrial enlargement | 1 | CITED2 CL E G H | 10370 | 1987 | ORPHA:99103 | Atrial septal defect, ostium secundum type | HP:0040282 - Frequent | | | 5 | | |
HP:0025580 | HP:0030718 | Right atrial enlargement | 1 | FLNA CL E G H | 2316 | 3754 | ORPHA:555877 | FLNA-related X-linked myxomatous valvular dysplasia | | | | 493 | | |
HP:0025580 | HP:0030718 | Right atrial enlargement | 1 | FLNC CL E G H | 2318 | 3756 | OMIM:617047 | Cardiomyopathy, familial hypertrophic, 26 | | | | 197 | | |
HP:0025580 | HP:0030718 | Right atrial enlargement | 1 | FLNC CL E G H | 2318 | 3756 | ORPHA:75249 | Familial isolated restrictive cardiomyopathy | HP:0040282 - Frequent | | | 197 | | |
HP:0025580 | HP:0030718 | Right atrial enlargement | 1 | GATA4 CL E G H | 2626 | 4173 | ORPHA:99103 | Atrial septal defect, ostium secundum type | HP:0040282 - Frequent | | | 87 | | |
HP:0025580 | HP:0030718 | Right atrial enlargement | 1 | GATA6 CL E G H | 2627 | 4174 | ORPHA:99103 | Atrial septal defect, ostium secundum type | HP:0040282 - Frequent | | | 37 | | |
HP:0025580 | HP:0030718 | Right atrial enlargement | 1 | KIF20A CL E G H | 10112 | 9787 | ORPHA:75249 | Familial isolated restrictive cardiomyopathy | HP:0040282 - Frequent | | | | | |
HP:0025580 | HP:0030718 | Right atrial enlargement | 1 | MCM10 CL E G H | 55388 | 18043 | OMIM:619313 | IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80 | | | | | | |
HP:0025580 | HP:0030718 | Right atrial enlargement | 1 | MYBPC3 CL E G H | 4607 | 7551 | OMIM:115197 | Cardiomyopathy, familial hypertrophic, 4 | | | | 1143 | | |
HP:0025580 | HP:0030718 | Right atrial enlargement | 1 | MYH6 CL E G H | 4624 | 7576 | ORPHA:99103 | Atrial septal defect, ostium secundum type | HP:0040282 - Frequent | | | 452 | | |
HP:0025580 | HP:0030718 | Right atrial enlargement | 1 | MYL2 CL E G H | 4633 | 7583 | OMIM:619424 | MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12 | | | | 131 | | |
HP:0025580 | HP:0030718 | Right atrial enlargement | 1 | MYPN CL E G H | 84665 | 23246 | ORPHA:75249 | Familial isolated restrictive cardiomyopathy | HP:0040282 - Frequent | | | 217 | | |
HP:0025580 | HP:0030718 | Right atrial enlargement | 1 | NKX2-5 CL E G H | 1482 | 2488 | ORPHA:99103 | Atrial septal defect, ostium secundum type | HP:0040282 - Frequent | | | 90 | | |
HP:0025580 | HP:0030718 | Right atrial enlargement | 1 | NOTCH1 CL E G H | 4851 | 7881 | OMIM:616028 | Adams-Oliver syndrome 5 | . | | | 452 | | |
HP:0025580 | HP:0030718 | Right atrial enlargement | 1 | RPL3L CL E G H | 6123 | 10351 | OMIM:619371 | CARDIOMYOPATHY, DILATED, 2D; CMD2D | | | | | | |
HP:0025580 | HP:0030718 | Right atrial enlargement | 1 | TBX20 CL E G H | 57057 | 11598 | ORPHA:99103 | Atrial septal defect, ostium secundum type | HP:0040282 - Frequent | | | 20 | | |
HP:0025580 | HP:0030718 | Right atrial enlargement | 1 | TLL1 CL E G H | 7092 | 11843 | ORPHA:99106 | Atrial septal defect, ostium primum type | HP:0040283 - Occasional | | | 6 | | |
HP:0025580 | HP:0030718 | Right atrial enlargement | 1 | TLL1 CL E G H | 7092 | 11843 | ORPHA:99103 | Atrial septal defect, ostium secundum type | HP:0040282 - Frequent | | | 6 | | |
HP:0025580 | HP:0030718 | Right atrial enlargement | 1 | TNNI3 CL E G H | 7137 | 11947 | ORPHA:75249 | Familial isolated restrictive cardiomyopathy | HP:0040282 - Frequent | | | 180 | | |
HP:0025580 | HP:0030718 | Right atrial enlargement | 1 | TNNT2 CL E G H | 7139 | 11949 | ORPHA:75249 | Familial isolated restrictive cardiomyopathy | HP:0040282 - Frequent | | | 248 | | |