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:0025579 | HP:0025579 | Abnormal left atrium morphology | 0 | BANF1 CL E G H | 8815 | 17397 | OMIM:614008 | Nestor-Guillermo progeria syndrome | | | | 22 | | |
HP:0025579 | HP:0025579 | Abnormal left atrium morphology | 0 | FHOD3 CL E G H | 80206 | 26178 | OMIM:619402 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28; CMH28 | | | | | | |
HP:0025579 | HP:0025579 | Abnormal left atrium morphology | 0 | FLNC CL E G H | 2318 | 3756 | OMIM:617047 | Cardiomyopathy, familial hypertrophic, 26 | | | | 197 | | |
HP:0025579 | HP:0025579 | Abnormal left atrium morphology | 0 | FLNC CL E G H | 2318 | 3756 | ORPHA:75249 | Familial isolated restrictive cardiomyopathy | | | | 197 | | |
HP:0025579 | HP:0025579 | Abnormal left atrium morphology | 0 | FOCAD CL E G H | 54914 | 23377 | OMIM:619991 | | | | | 3 | | |
HP:0025579 | HP:0025579 | Abnormal left atrium morphology | 0 | GYS1 CL E G H | 2997 | 4706 | OMIM:611556 | Glycogen storage disease 0, muscle | | | | 52 | | |
HP:0025579 | HP:0025579 | Abnormal left atrium morphology | 0 | KIF20A CL E G H | 10112 | 9787 | ORPHA:75249 | Familial isolated restrictive cardiomyopathy | | | | | | |
HP:0025579 | HP:0025579 | Abnormal left atrium morphology | 0 | LMOD2 CL E G H | 442721 | 6648 | OMIM:619897 | | | | | | | |
HP:0025579 | HP:0025579 | Abnormal left atrium morphology | 0 | MYH7 CL E G H | 4625 | 7577 | OMIM:160500 | Myopathy, distal, 1 | | | | 1269 | | |
HP:0025579 | HP:0025579 | Abnormal left atrium morphology | 0 | MYL2 CL E G H | 4633 | 7583 | OMIM:619424 | MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12 | | | | 131 | | |
HP:0025579 | HP:0025579 | Abnormal left atrium morphology | 0 | MYL3 CL E G H | 4634 | 7584 | OMIM:608751 | Cardiomyopathy, familial hypertrophic, 8 | | | | 95 | | |
HP:0025579 | HP:0025579 | Abnormal left atrium morphology | 0 | MYPN CL E G H | 84665 | 23246 | ORPHA:75249 | Familial isolated restrictive cardiomyopathy | | | | 217 | | |
HP:0025579 | HP:0025579 | Abnormal left atrium morphology | 0 | NAA10 CL E G H | 8260 | 18704 | OMIM:300855 | Ogden syndrome | | | | 23 | | |
HP:0025579 | HP:0025579 | Abnormal left atrium morphology | 0 | NPPA CL E G H | 4878 | 7939 | OMIM:612201 | Atrial fibrillation, familial, 6 | | | | 13 | | |
HP:0025579 | HP:0025579 | Abnormal left atrium morphology | 0 | NUP155 CL E G H | 9631 | 8063 | OMIM:615770 | Atrial fibrillation, familial, 15 | | | | 1 | | |
HP:0025579 | HP:0025579 | Abnormal left atrium morphology | 0 | PLD1 CL E G H | 5337 | 9067 | OMIM:212093 | Cardiac valvular defect, developmental | | | | 4 | | |
HP:0025579 | HP:0025579 | Abnormal left atrium morphology | 0 | RARB CL E G H | 5915 | 9865 | OMIM:615524 | Microphthalmia, syndromic 12 | | | | 9 | | |
HP:0025579 | HP:0025579 | Abnormal left atrium morphology | 0 | SCN1B CL E G H | 6324 | 10586 | OMIM:615377 | Atrial fibrillation, familial, 13 | | | | 126 | | |
HP:0025579 | HP:0025579 | Abnormal left atrium morphology | 0 | SCN5A CL E G H | 6331 | 10593 | OMIM:614022 | Atrial fibrillation, familial, 10 | | | | 1134 | | |
HP:0025579 | HP:0025579 | Abnormal left atrium morphology | 0 | STRA6 CL E G H | 64220 | 30650 | OMIM:601186 | Microphthalmia, syndromic 9 | | | | 71 | | |
HP:0025579 | HP:0025579 | Abnormal left atrium morphology | 0 | TLL1 CL E G H | 7092 | 11843 | ORPHA:99106 | Atrial septal defect, ostium primum type | | | | 6 | | |
HP:0025579 | HP:0025579 | Abnormal left atrium morphology | 0 | TNNI3 CL E G H | 7137 | 11947 | OMIM:115210 | CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1 | | | | 180 | | |
HP:0025579 | HP:0025579 | Abnormal left atrium morphology | 0 | TNNI3 CL E G H | 7137 | 11947 | ORPHA:75249 | Familial isolated restrictive cardiomyopathy | | | | 180 | | |
HP:0025579 | HP:0025579 | Abnormal left atrium morphology | 0 | TNNT2 CL E G H | 7139 | 11949 | ORPHA:75249 | Familial isolated restrictive cardiomyopathy | | | | 248 | | |
HP:0025579 | HP:0031295 | Left atrial enlargement | 1 | BANF1 CL E G H | 8815 | 17397 | OMIM:614008 | Nestor-Guillermo progeria syndrome | | | | 22 | | |
HP:0025579 | HP:0031295 | Left atrial enlargement | 1 | FHOD3 CL E G H | 80206 | 26178 | OMIM:619402 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28; CMH28 | | | | | | |
HP:0025579 | HP:0031295 | Left atrial enlargement | 1 | FLNC CL E G H | 2318 | 3756 | OMIM:617047 | Cardiomyopathy, familial hypertrophic, 26 | HP:0040284 - Very rare | | | 197 | | |
HP:0025579 | HP:0031295 | Left atrial enlargement | 1 | FLNC CL E G H | 2318 | 3756 | ORPHA:75249 | Familial isolated restrictive cardiomyopathy | HP:0040282 - Frequent | | | 197 | | |
HP:0025579 | HP:0031295 | Left atrial enlargement | 1 | FOCAD CL E G H | 54914 | 23377 | OMIM:619991 | | | | | 3 | | |
HP:0025579 | HP:0031295 | Left atrial enlargement | 1 | GYS1 CL E G H | 2997 | 4706 | OMIM:611556 | Glycogen storage disease 0, muscle | . | | | 52 | | |
HP:0025579 | HP:0031295 | Left atrial enlargement | 1 | KIF20A CL E G H | 10112 | 9787 | ORPHA:75249 | Familial isolated restrictive cardiomyopathy | HP:0040282 - Frequent | | | | | |
HP:0025579 | HP:0031295 | Left atrial enlargement | 1 | LMOD2 CL E G H | 442721 | 6648 | OMIM:619897 | | | | | | | |
HP:0025579 | HP:0031295 | Left atrial enlargement | 1 | MYH7 CL E G H | 4625 | 7577 | OMIM:160500 | Myopathy, distal, 1 | | | | 1269 | | |
HP:0025579 | HP:0031295 | Left atrial enlargement | 1 | MYL2 CL E G H | 4633 | 7583 | OMIM:619424 | MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12 | | | | 131 | | |
HP:0025579 | HP:0031295 | Left atrial enlargement | 1 | MYL3 CL E G H | 4634 | 7584 | OMIM:608751 | Cardiomyopathy, familial hypertrophic, 8 | . | | | 95 | | |
HP:0025579 | HP:0031295 | Left atrial enlargement | 1 | MYPN CL E G H | 84665 | 23246 | ORPHA:75249 | Familial isolated restrictive cardiomyopathy | HP:0040282 - Frequent | | | 217 | | |
HP:0025579 | HP:0031295 | Left atrial enlargement | 1 | NAA10 CL E G H | 8260 | 18704 | OMIM:300855 | Ogden syndrome | | | | 23 | | |
HP:0025579 | HP:0031295 | Left atrial enlargement | 1 | NPPA CL E G H | 4878 | 7939 | OMIM:612201 | Atrial fibrillation, familial, 6 | | | | 13 | | |
HP:0025579 | HP:0031295 | Left atrial enlargement | 1 | NUP155 CL E G H | 9631 | 8063 | OMIM:615770 | Atrial fibrillation, familial, 15 | | | | 1 | | |
HP:0025579 | HP:0031295 | Left atrial enlargement | 1 | PLD1 CL E G H | 5337 | 9067 | OMIM:212093 | Cardiac valvular defect, developmental | | | | 4 | | |
HP:0025579 | HP:0005156 | Hypoplastic left atrium | 1 | RARB CL E G H | 5915 | 9865 | OMIM:615524 | Microphthalmia, syndromic 12 | HP:0040283 - Occasional | | | 9 | | |
HP:0025579 | HP:0031295 | Left atrial enlargement | 1 | SCN1B CL E G H | 6324 | 10586 | OMIM:615377 | Atrial fibrillation, familial, 13 | . | | | 126 | | |
HP:0025579 | HP:0031295 | Left atrial enlargement | 1 | SCN5A CL E G H | 6331 | 10593 | OMIM:614022 | Atrial fibrillation, familial, 10 | HP:0040284 - Very rare | | | 1134 | | |
HP:0025579 | HP:0005156 | Hypoplastic left atrium | 1 | STRA6 CL E G H | 64220 | 30650 | OMIM:601186 | Microphthalmia, syndromic 9 | . | | | 71 | | |
HP:0025579 | HP:0031295 | Left atrial enlargement | 1 | TLL1 CL E G H | 7092 | 11843 | ORPHA:99106 | Atrial septal defect, ostium primum type | HP:0040283 - Occasional | | | 6 | | |
HP:0025579 | HP:0031295 | Left atrial enlargement | 1 | TNNI3 CL E G H | 7137 | 11947 | OMIM:115210 | CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1 | | | | 180 | | |
HP:0025579 | HP:0031295 | Left atrial enlargement | 1 | TNNI3 CL E G H | 7137 | 11947 | ORPHA:75249 | Familial isolated restrictive cardiomyopathy | HP:0040282 - Frequent | | | 180 | | |
HP:0025579 | HP:0031295 | Left atrial enlargement | 1 | TNNT2 CL E G H | 7139 | 11949 | ORPHA:75249 | Familial isolated restrictive cardiomyopathy | HP:0040282 - Frequent | | | 248 | | |