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:0001709 | HP:0001709 | Third degree atrioventricular block | 0 | ATP8 CL E G H | 4509 | 7415 | ORPHA:480 | Kearns-Sayre syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001709 | HP:0001709 | Third degree atrioventricular block | 0 | DEF6 CL E G H | 50619 | 2760 | OMIM:619573 | IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87 | | | | | | |
HP:0001709 | HP:0001709 | Third degree atrioventricular block | 0 | DES CL E G H | 1674 | 2770 | OMIM:601419 | Myopathy, myofibrillar, 1 | | | | 263 | | |
HP:0001709 | HP:0001709 | Third degree atrioventricular block | 0 | GRIN1 CL E G H | 2902 | 4584 | OMIM:619814 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101; DEE101 | | | | 108 | | |
HP:0001709 | HP:0001709 | Third degree atrioventricular block | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:115200 | Cardiomyopathy, dilated, 1A | | | | 645 | | |
HP:0001709 | HP:0001709 | Third degree atrioventricular block | 0 | MYL4 CL E G H | 4635 | 7585 | OMIM:617280 | Atrial fibrillation, familial, 18 | | | | 2 | | |
HP:0001709 | HP:0001709 | Third degree atrioventricular block | 0 | PRKG2 CL E G H | 5593 | 9416 | OMIM:619636 | ACROMESOMELIC DYSPLASIA 4; AMD4 | | | | | | |
HP:0001709 | HP:0001709 | Third degree atrioventricular block | 0 | PTPN11 CL E G H | 5781 | 9644 | OMIM:151100 | Leopard syndrome 1 | . | | | 291 | | |
HP:0001709 | HP:0001709 | Third degree atrioventricular block | 0 | RRM2B CL E G H | 50484 | 17296 | ORPHA:480 | Kearns-Sayre syndrome | HP:0040281 - Very frequent | | | 125 | | |
HP:0001709 | HP:0001709 | Third degree atrioventricular block | 0 | SCN5A CL E G H | 6331 | 10593 | OMIM:113900 | Progressive familial heart block, type IA | | | | 1134 | | |
HP:0001709 | HP:0001709 | Third degree atrioventricular block | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:480 | Kearns-Sayre syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001709 | HP:0005178 | Complete heart block with narrow QRS complexes | 1 | CL E G H | | | | | | | | | | |
HP:0001709 | HP:0005170 | Complete heart block with broad QRS complexes | 1 | SCN5A CL E G H | 6331 | 10593 | OMIM:113900 | Progressive familial heart block, type IA | . | | | 1134 | | |