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:0011712 | HP:0011712 | Right bundle branch block | 0 | ABCC9 CL E G H | 10060 | 60 | ORPHA:130 | Brugada syndrome | HP:0040282 - Frequent | | | 254 | | |
HP:0011712 | HP:0011712 | Right bundle branch block | 0 | ACTC1 CL E G H | 70 | 143 | OMIM:612098 | Cardiomyopathy, familial hypertrophic, 11 | | | | 208 | | |
HP:0011712 | HP:0011712 | Right bundle branch block | 0 | AKAP9 CL E G H | 10142 | 379 | ORPHA:130 | Brugada syndrome | HP:0040282 - Frequent | | | 289 | | |
HP:0011712 | HP:0011712 | Right bundle branch block | 0 | ATP6V1A CL E G H | 523 | 851 | OMIM:617403 | Cutis laxa, autosomal recessive, type IID | . | | | 3 | | |
HP:0011712 | HP:0011712 | Right bundle branch block | 0 | ATP6V1E1 CL E G H | 529 | 857 | OMIM:617402 | Cutis laxa, autosomal recessive, type IIC | . | | | 2 | | |
HP:0011712 | HP:0011712 | Right bundle branch block | 0 | BANF1 CL E G H | 8815 | 17397 | OMIM:614008 | Nestor-Guillermo progeria syndrome | . | | | 22 | | |
HP:0011712 | HP:0011712 | Right bundle branch block | 0 | CACNA1C CL E G H | 775 | 1390 | ORPHA:130 | Brugada syndrome | HP:0040282 - Frequent | | | 572 | | |
HP:0011712 | HP:0011712 | Right bundle branch block | 0 | CACNA2D1 CL E G H | 781 | 1399 | ORPHA:130 | Brugada syndrome | HP:0040282 - Frequent | | | 59 | | |
HP:0011712 | HP:0011712 | Right bundle branch block | 0 | CACNB2 CL E G H | 783 | 1402 | ORPHA:130 | Brugada syndrome | HP:0040282 - Frequent | | | 206 | | |
HP:0011712 | HP:0011712 | Right bundle branch block | 0 | CITED2 CL E G H | 10370 | 1987 | ORPHA:99105 | Atrial septal defect, sinus venosus type | HP:0040283 - Occasional | | | 5 | | |
HP:0011712 | HP:0011712 | Right bundle branch block | 0 | CNBP CL E G H | 7555 | 13164 | OMIM:602668 | Dystrophia myotonica 2 | | | | 1 | | |
HP:0011712 | HP:0011712 | Right bundle branch block | 0 | CYTB CL E G H | 4519 | 7427 | ORPHA:137675 | Histiocytoid cardiomyopathy | HP:0040283 - Occasional | | | | | |
HP:0011712 | HP:0011712 | Right bundle branch block | 0 | DSG2 CL E G H | 1829 | 3049 | OMIM:610193 | Arrhythmogenic right ventricular dysplasia, familial, 10 | | | | 358 | | |
HP:0011712 | HP:0011712 | Right bundle branch block | 0 | DYSF CL E G H | 8291 | 3097 | ORPHA:268 | Dysferlin-related limb-girdle muscular dystrophy R2 | HP:0040283 - Occasional | | | 600 | | |
HP:0011712 | HP:0011712 | Right bundle branch block | 0 | EXOSC5 CL E G H | 56915 | 24662 | OMIM:619576 | CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC | | | | | | |
HP:0011712 | HP:0011712 | Right bundle branch block | 0 | GNAI2 CL E G H | 2771 | 4385 | OMIM:192605 | Ventricular tachycardia, familial | . | | | 4 | | |
HP:0011712 | HP:0011712 | Right bundle branch block | 0 | GPD1L CL E G H | 23171 | 28956 | ORPHA:130 | Brugada syndrome | HP:0040282 - Frequent | | | 97 | | |
HP:0011712 | HP:0011712 | Right bundle branch block | 0 | GPD1L CL E G H | 23171 | 28956 | OMIM:611777 | BRUGADA SYNDROME 2; BRGDA2 | | | | 97 | | |
HP:0011712 | HP:0011712 | Right bundle branch block | 0 | GYG1 CL E G H | 2992 | 4699 | ORPHA:263297 | Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency | HP:0040282 - Frequent | | | 18 | | |
HP:0011712 | HP:0011712 | Right bundle branch block | 0 | GYG1 CL E G H | 2992 | 4699 | OMIM:613507 | Glycogen storage disease XV | . | | | 18 | | |
HP:0011712 | HP:0011712 | Right bundle branch block | 0 | HCN4 CL E G H | 10021 | 16882 | ORPHA:130 | Brugada syndrome | HP:0040282 - Frequent | | | 185 | | |
HP:0011712 | HP:0011712 | Right bundle branch block | 0 | HCN4 CL E G H | 10021 | 16882 | OMIM:613123 | BRUGADA SYNDROME 8; BRGDA8 | | | | 185 | | |
HP:0011712 | HP:0011712 | Right bundle branch block | 0 | JUP CL E G H | 3728 | 6207 | OMIM:601214 | Naxos disease | | | | 222 | | |
HP:0011712 | HP:0011712 | Right bundle branch block | 0 | KCND3 CL E G H | 3752 | 6239 | ORPHA:130 | Brugada syndrome | HP:0040282 - Frequent | | | 35 | | |
HP:0011712 | HP:0011712 | Right bundle branch block | 0 | KCNE3 CL E G H | 10008 | 6243 | ORPHA:130 | Brugada syndrome | HP:0040282 - Frequent | | | 73 | | |
HP:0011712 | HP:0011712 | Right bundle branch block | 0 | KCNE5 CL E G H | 23630 | 6241 | ORPHA:130 | Brugada syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0011712 | HP:0011712 | Right bundle branch block | 0 | KCNJ8 CL E G H | 3764 | 6269 | ORPHA:130 | Brugada syndrome | HP:0040282 - Frequent | | | 23 | | |
HP:0011712 | HP:0011712 | Right bundle branch block | 0 | KCNK3 CL E G H | 3777 | 6278 | OMIM:615344 | Pulmonary hypertension, primary, 4 | | | | 7 | | |
HP:0011712 | HP:0011712 | Right bundle branch block | 0 | LEMD2 CL E G H | 221496 | 21244 | OMIM:619322 | MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS | | | | 1 | | |
HP:0011712 | HP:0011712 | Right bundle branch block | 0 | LMOD2 CL E G H | 442721 | 6648 | OMIM:619897 | | | | | | | |
HP:0011712 | HP:0011712 | Right bundle branch block | 0 | MYBPC3 CL E G H | 4607 | 7551 | OMIM:115197 | Cardiomyopathy, familial hypertrophic, 4 | . | | | 1143 | | |
HP:0011712 | HP:0011712 | Right bundle branch block | 0 | MYH6 CL E G H | 4624 | 7576 | OMIM:613251 | Cardiomyopathy, familial hypertrophic, 14 | | | | 452 | | |
HP:0011712 | HP:0011712 | Right bundle branch block | 0 | MYH7 CL E G H | 4625 | 7577 | ORPHA:1880 | Ebstein malformation of the tricuspid valve | HP:0040282 - Frequent | | | 1269 | | |
HP:0011712 | HP:0011712 | Right bundle branch block | 0 | MYH7 CL E G H | 4625 | 7577 | OMIM:255160 | Myopathy, myosin storage, autosomal recessive | | | | 1269 | | |
HP:0011712 | HP:0011712 | Right bundle branch block | 0 | NPPA CL E G H | 4878 | 7939 | ORPHA:1344 | Atrial standstill | HP:0040282 - Frequent | | | 13 | | |
HP:0011712 | HP:0011712 | Right bundle branch block | 0 | PIGU CL E G H | 128869 | 15791 | OMIM:618590 | NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS | | | | | | |
HP:0011712 | HP:0011712 | Right bundle branch block | 0 | PKP2 CL E G H | 5318 | 9024 | ORPHA:130 | Brugada syndrome | HP:0040282 - Frequent | | | 406 | | |
HP:0011712 | HP:0011712 | Right bundle branch block | 0 | PLEC CL E G H | 5339 | 9069 | ORPHA:254361 | Plectin-related limb-girdle muscular dystrophy R17 | HP:0040284 - Very rare | | | 759 | | |
HP:0011712 | HP:0011712 | Right bundle branch block | 0 | POMT2 CL E G H | 29954 | 19743 | OMIM:613158 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 | HP:0040283 - Occasional | | | 221 | | |
HP:0011712 | HP:0011712 | Right bundle branch block | 0 | POMT2 CL E G H | 29954 | 19743 | ORPHA:206559 | POMT2-related limb-girdle muscular dystrophy R14 | HP:0040283 - Occasional | | | 221 | | |
HP:0011712 | HP:0011712 | Right bundle branch block | 0 | PPP1CB CL E G H | 5500 | 9282 | OMIM:617506 | Noonan syndrome-like disorder with loose anagen hair 2 | | | | 9 | | |
HP:0011712 | HP:0011712 | Right bundle branch block | 0 | RANGRF CL E G H | 29098 | 17679 | ORPHA:130 | Brugada syndrome | HP:0040282 - Frequent | | | 22 | | |
HP:0011712 | HP:0011712 | Right bundle branch block | 0 | RNASEH1 CL E G H | 246243 | 18466 | OMIM:616479 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 | HP:0040283 - Occasional | | | 3 | | |
HP:0011712 | HP:0011712 | Right bundle branch block | 0 | SCN10A CL E G H | 6336 | 10582 | ORPHA:130 | Brugada syndrome | HP:0040282 - Frequent | | | 146 | | |
HP:0011712 | HP:0011712 | Right bundle branch block | 0 | SCN1B CL E G H | 6324 | 10586 | ORPHA:130 | Brugada syndrome | HP:0040282 - Frequent | | | 126 | | |
HP:0011712 | HP:0011712 | Right bundle branch block | 0 | SCN2B CL E G H | 6327 | 10589 | ORPHA:130 | Brugada syndrome | HP:0040282 - Frequent | | | 21 | | |
HP:0011712 | HP:0011712 | Right bundle branch block | 0 | SCN3B CL E G H | 55800 | 20665 | ORPHA:130 | Brugada syndrome | HP:0040282 - Frequent | | | 122 | | |
HP:0011712 | HP:0011712 | Right bundle branch block | 0 | SCN5A CL E G H | 6331 | 10593 | ORPHA:1344 | Atrial standstill | HP:0040282 - Frequent | | | 1134 | | |
HP:0011712 | HP:0011712 | Right bundle branch block | 0 | SCN5A CL E G H | 6331 | 10593 | ORPHA:130 | Brugada syndrome | HP:0040282 - Frequent | | | 1134 | | |
HP:0011712 | HP:0011712 | Right bundle branch block | 0 | SCN5A CL E G H | 6331 | 10593 | OMIM:601144 | BRUGADA SYNDROME 1; BRGDA1 | | | | 1134 | | |
HP:0011712 | HP:0011712 | Right bundle branch block | 0 | SCN5A CL E G H | 6331 | 10593 | OMIM:601154 | Cardiomyopathy, dilated, 1E | . | | | 1134 | | |
HP:0011712 | HP:0011712 | Right bundle branch block | 0 | SCN5A CL E G H | 6331 | 10593 | OMIM:113900 | Progressive familial heart block, type IA | . | | | 1134 | | |
HP:0011712 | HP:0011712 | Right bundle branch block | 0 | SCNN1A CL E G H | 6337 | 10599 | ORPHA:130 | Brugada syndrome | HP:0040282 - Frequent | | | 67 | | |
HP:0011712 | HP:0011712 | Right bundle branch block | 0 | SEMA3A CL E G H | 10371 | 10723 | ORPHA:130 | Brugada syndrome | HP:0040282 - Frequent | | | 14 | | |
HP:0011712 | HP:0011712 | Right bundle branch block | 0 | SLMAP CL E G H | 7871 | 16643 | ORPHA:130 | Brugada syndrome | HP:0040282 - Frequent | | | 18 | | |
HP:0011712 | HP:0011712 | Right bundle branch block | 0 | TLL1 CL E G H | 7092 | 11843 | ORPHA:99106 | Atrial septal defect, ostium primum type | HP:0040282 - Frequent | | | 6 | | |
HP:0011712 | HP:0011712 | Right bundle branch block | 0 | TNNC1 CL E G H | 7134 | 11943 | OMIM:613243 | Cardiomyopathy, familial hypertrophic, 13 | HP:0040283 - Occasional | | | 73 | | |
HP:0011712 | HP:0011712 | Right bundle branch block | 0 | TNNI3K CL E G H | 51086 | 19661 | OMIM:616117 | Cardiac conduction disease with or without dilated cardiomyopathy | . | | | 1 | | |
HP:0011712 | HP:0011712 | Right bundle branch block | 0 | TNNT2 CL E G H | 7139 | 11949 | OMIM:115195 | Cardiomyopathy, familial hypertrophic, 2 | | | | 248 | | |
HP:0011712 | HP:0011712 | Right bundle branch block | 0 | TRPM4 CL E G H | 54795 | 17993 | ORPHA:130 | Brugada syndrome | HP:0040282 - Frequent | | | 124 | | |
HP:0011712 | HP:0011712 | Right bundle branch block | 0 | TRPM4 CL E G H | 54795 | 17993 | OMIM:604559 | Progressive familial heart block, type IB | . | | | 124 | | |