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:0005144 | HP:0005144 | Ventricular septal hypertrophy | 0 | ALPK3 CL E G H | 57538 | 17574 | OMIM:618052 | Cardiomyopathy, familial hypertrophic 27 | | | | 89 | | |
HP:0005144 | HP:0005144 | Ventricular septal hypertrophy | 0 | BSCL2 CL E G H | 26580 | 15832 | OMIM:269700 | Lipodystrophy, congenital generalized, type 2 | . | | | 105 | | |
HP:0005144 | HP:0005144 | Ventricular septal hypertrophy | 0 | CSRP3 CL E G H | 8048 | 2472 | OMIM:612124 | Cardiomyopathy, familial hypertrophic, 12 | | | | 104 | | |
HP:0005144 | HP:0005144 | Ventricular septal hypertrophy | 0 | GLA CL E G H | 2717 | 4296 | OMIM:301500 | Fabry disease | . | | | 291 | | |
HP:0005144 | HP:0005144 | Ventricular septal hypertrophy | 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:0005144 | HP:0005144 | Ventricular septal hypertrophy | 0 | LEMD2 CL E G H | 221496 | 21244 | OMIM:619322 | MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS | | | | 1 | | |
HP:0005144 | HP:0005144 | Ventricular septal hypertrophy | 0 | MAP2K2 CL E G H | 5605 | 6842 | OMIM:615280 | Cardiofaciocutaneous syndrome 4 | | | | 178 | | |
HP:0005144 | HP:0005144 | Ventricular septal hypertrophy | 0 | MTFMT CL E G H | 123263 | 29666 | OMIM:614947 | Combined oxidative phosphorylation deficiency 15 | HP:0040284 - Very rare | | | 29 | | |
HP:0005144 | HP:0005144 | Ventricular septal hypertrophy | 0 | MYBPC3 CL E G H | 4607 | 7551 | OMIM:115197 | Cardiomyopathy, familial hypertrophic, 4 | . | | | 1143 | | |
HP:0005144 | HP:0005144 | Ventricular septal hypertrophy | 0 | MYL2 CL E G H | 4633 | 7583 | OMIM:608758 | Cardiomyopathy, familial hypertrophic, 10 | . | | | 131 | | |
HP:0005144 | HP:0005144 | Ventricular septal hypertrophy | 0 | MYPN CL E G H | 84665 | 23246 | OMIM:615248 | Cardiomyopathy, dilated, 1kk | HP:0040284 - Very rare | | | 217 | | |
HP:0005144 | HP:0005144 | Ventricular septal hypertrophy | 0 | SYNE1 CL E G H | 23345 | 17089 | OMIM:612998 | Emery-Dreifuss muscular dystrophy 4, autosomal dominant | . | | | 1129 | | |
HP:0005144 | HP:0005144 | Ventricular septal hypertrophy | 0 | TNNT2 CL E G H | 7139 | 11949 | OMIM:115195 | Cardiomyopathy, familial hypertrophic, 2 | | | | 248 | | |