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:0011623 | HP:0011623 | Muscular ventricular septal defect | 0 | ALG12 CL E G H | 79087 | 19358 | ORPHA:79324 | ALG12-CDG | HP:0040284 - Very rare | | | 68 | | |
HP:0011623 | HP:0011623 | Muscular ventricular septal defect | 0 | ATP6V0A2 CL E G H | 23545 | 18481 | OMIM:278250 | Wrinkly skin syndrome | | | | 140 | | |
HP:0011623 | HP:0011623 | Muscular ventricular septal defect | 0 | DNAJC19 CL E G H | 131118 | 30528 | ORPHA:66634 | Dilated cardiomyopathy with ataxia | HP:0040283 - Occasional | | | 25 | | |
HP:0011623 | HP:0011623 | Muscular ventricular septal defect | 0 | DPH2 CL E G H | 1802 | 3004 | OMIM:620062 | | | | | | | |
HP:0011623 | HP:0011623 | Muscular ventricular septal defect | 0 | DPH5 CL E G H | 51611 | 24270 | OMIM:620070 | | | | | | | |
HP:0011623 | HP:0011623 | Muscular ventricular septal defect | 0 | GATA6 CL E G H | 2627 | 4174 | OMIM:614474 | Atrioventricular septal defect 5 | . | | | 37 | | |
HP:0011623 | HP:0011623 | Muscular ventricular septal defect | 0 | GJA5 CL E G H | 2702 | 4279 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 39 | | |
HP:0011623 | HP:0011623 | Muscular ventricular septal defect | 0 | GJA8 CL E G H | 2703 | 4281 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 34 | | |
HP:0011623 | HP:0011623 | Muscular ventricular septal defect | 0 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0011623 | HP:0011623 | Muscular ventricular septal defect | 0 | MAP3K7 CL E G H | 6885 | 6859 | OMIM:157800 | Cardiospondylocarpofacial syndrome | | | | 11 | | |
HP:0011623 | HP:0011623 | Muscular ventricular septal defect | 0 | MYBPC3 CL E G H | 4607 | 7551 | OMIM:115197 | Cardiomyopathy, familial hypertrophic, 4 | | | | 1143 | | |
HP:0011623 | HP:0011623 | Muscular ventricular septal defect | 0 | MYCN CL E G H | 4613 | 7559 | ORPHA:391641 | Feingold syndrome type 1 | | | | 35 | | |
HP:0011623 | HP:0011623 | Muscular ventricular septal defect | 0 | NSD1 CL E G H | 64324 | 14234 | OMIM:117550 | Sotos syndrome 1 | | | | 544 | | |
HP:0011623 | HP:0011623 | Muscular ventricular septal defect | 0 | NUP188 CL E G H | 23511 | 17859 | OMIM:618804 | SANDESTIG-STEFANOVA SYNDROME; SANDSTEF | | | | 4 | | |
HP:0011623 | HP:0011623 | Muscular ventricular septal defect | 0 | PLD1 CL E G H | 5337 | 9067 | OMIM:212093 | Cardiac valvular defect, developmental | | | | 4 | | |
HP:0011623 | HP:0011623 | Muscular ventricular septal defect | 0 | PSMC1 CL E G H | 5700 | 9547 | OMIM:620071 | | | | | 1 | | |
HP:0011623 | HP:0011623 | Muscular ventricular septal defect | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:210710 | Microcephalic osteodysplastic primordial dwarfism, type I | | | | 15 | | |
HP:0011623 | HP:0011623 | Muscular ventricular septal defect | 0 | RPL3L CL E G H | 6123 | 10351 | OMIM:619371 | CARDIOMYOPATHY, DILATED, 2D; CMD2D | | | | | | |
HP:0011623 | HP:0011623 | Muscular ventricular septal defect | 0 | SVBP CL E G H | 374969 | 29204 | OMIM:618569 | NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM | | | | | | |
HP:0011623 | HP:0011623 | Muscular ventricular septal defect | 0 | THOC6 CL E G H | 79228 | 28369 | ORPHA:363444 | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0011623 | HP:0011623 | Muscular ventricular septal defect | 0 | WBP11 CL E G H | 51729 | 16461 | OMIM:619227 | VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL | | | | | | |
HP:0011623 | HP:0011624 | Apical muscular ventricular septal defect | 1 | CL E G H | | | | | | | | | | |
HP:0011623 | HP:0011625 | Multiple muscular ventricular septal defects | 1 | DPH5 CL E G H | 51611 | 24270 | OMIM:620070 | | | | | | | |
HP:0011623 | HP:0011625 | Multiple muscular ventricular septal defects | 1 | MYCN CL E G H | 4613 | 7559 | ORPHA:391641 | Feingold syndrome type 1 | HP:0040283 - Occasional | | | 35 | | |