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:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | ABCA1 CL E G H | 19 | 29 | OMIM:205400 | Tangier disease | | | | 191 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | ABCA1 CL E G H | 19 | 29 | ORPHA:31150 | Tangier disease | | | | 191 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | ABCC6 CL E G H | 368 | 57 | ORPHA:51608 | Generalized arterial calcification of infancy | HP:0040283 - Occasional | | | 415 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | ABCC9 CL E G H | 10060 | 60 | OMIM:239850 | Hypertrichotic osteochondrodysplasia | | | | 254 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | ACTC1 CL E G H | 70 | 143 | OMIM:613424 | Cardiomyopathy, dilated, 1R | | | | 208 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | ACTC1 CL E G H | 70 | 143 | OMIM:612098 | Cardiomyopathy, familial hypertrophic, 11 | | | | 208 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | ACTN2 CL E G H | 88 | 164 | OMIM:612158 | Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction | | | | 307 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | ADAM17 CL E G H | 6868 | 195 | ORPHA:294023 | Neonatal inflammatory skin and bowel disease | | | | 2 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | AGL CL E G H | 178 | 321 | OMIM:232400 | Glycogen storage disease III | . | | | 216 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | AIP CL E G H | 9049 | 358 | OMIM:102200 | Pituitary adenoma, growth hormone-secreting, 1 | | | | 95 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | AIP CL E G H | 9049 | 358 | ORPHA:99725 | Pituitary gigantism | | | | 95 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | ALG12 CL E G H | 79087 | 19358 | ORPHA:79324 | ALG12-CDG | | | | 68 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | ALPK3 CL E G H | 57538 | 17574 | OMIM:618052 | Cardiomyopathy, familial hypertrophic 27 | | | | 89 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | ARL6 CL E G H | 84100 | 13210 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 29 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | ARSK CL E G H | 153642 | 25239 | OMIM:619698 | MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10 | | | | | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | ATP13A3 CL E G H | 79572 | 24113 | OMIM:265400 | Pulmonary hypertension, primary, autosomal recessive | | | | | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | ATP6AP2 CL E G H | 10159 | 18305 | ORPHA:93952 | X-linked intellectual disability, Hedera type | | | | 36 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | ATP6V1E1 CL E G H | 529 | 857 | OMIM:617402 | Cutis laxa, autosomal recessive, type IIC | | | | 2 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | B3GAT3 CL E G H | 26229 | 923 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | | | | 5 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | BBS1 CL E G H | 582 | 966 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 114 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | BIN1 CL E G H | 274 | 1052 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | | | | 99 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | BMPR2 CL E G H | 659 | 1078 | OMIM:178600 | Pulmonary hypertension, primary, 1 | | | | 525 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | C1QBP CL E G H | 708 | 1243 | OMIM:617713 | Combined oxidative phosphorylation deficiency 33 | | | | | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | CACNA1D CL E G H | 776 | 1391 | OMIM:615474 | Primary aldosteronism, seizures, and neurologic abnormalities | | | | 51 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | CACNA1D CL E G H | 776 | 1391 | ORPHA:369929 | Primary hyperaldosteronism-seizures-neurological abnormalities syndrome | HP:0040281 - Very frequent | | | 51 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | CCDC28B CL E G H | 79140 | 28163 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 4 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | CHST3 CL E G H | 9469 | 1971 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | | | | 165 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | CHST3 CL E G H | 9469 | 1971 | OMIM:143095 | Spondyloepiphyseal dysplasia with congenital joint dislocations | . | | | 165 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | CLN3 CL E G H | 1201 | 2074 | ORPHA:228346 | CLN3 disease | | | | 216 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | COG1 CL E G H | 9382 | 6545 | OMIM:611209 | Congenital disorder of glycosylation, type IIg | | | | 52 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | COL1A2 CL E G H | 1278 | 2198 | ORPHA:230851 | Cardiac-valvular Ehlers-Danlos syndrome | | | | 243 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | COLQ CL E G H | 8292 | 2226 | ORPHA:98915 | Synaptic congenital myasthenic syndromes | | | | 90 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | COQ7 CL E G H | 10229 | 2244 | OMIM:616733 | Coenzyme Q10 deficiency, primary, 8 | | | | 1 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | COQ9 CL E G H | 57017 | 25302 | OMIM:614654 | Coenzyme Q10 deficiency, primary, 5 | | | | 44 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | COX1 CL E G H | 4512 | 7419 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | COX16 CL E G H | 51241 | 20213 | OMIM:619355 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22 | | | | | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | COX2 CL E G H | 4513 | 7421 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | COX3 CL E G H | 4514 | 7422 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | COX6B1 CL E G H | 1340 | 2280 | OMIM:619051 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7 | | | | 10 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | COX7B CL E G H | 1349 | 2291 | OMIM:300887 | Linear skin defects with multiple congenital anomalies 2 | HP:0040283 - Occasional | | | 6 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228305 | Carnitine palmitoyl transferase II deficiency, severe infantile form | HP:0040283 - Occasional | | | 101 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | CYTB CL E G H | 4519 | 7427 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | DEF6 CL E G H | 50619 | 2760 | OMIM:619573 | IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87 | | | | | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | DMD CL E G H | 1756 | 2928 | ORPHA:206546 | Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers | | | | 1496 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | DTNA CL E G H | 1837 | 3057 | OMIM:604169 | Left ventricular noncompaction 1 | | | | 163 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | DYSF CL E G H | 8291 | 3097 | ORPHA:268 | Dysferlin-related limb-girdle muscular dystrophy R2 | | | | 600 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | EGFR CL E G H | 1956 | 3236 | ORPHA:294023 | Neonatal inflammatory skin and bowel disease | | | | 257 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | ENPP1 CL E G H | 5167 | 3356 | ORPHA:51608 | Generalized arterial calcification of infancy | HP:0040283 - Occasional | | | 151 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | | | | 40 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | ESPN CL E G H | 83715 | 13281 | OMIM:618632 | USHER SYNDROME, TYPE 1M; USH1M | | | | 33 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | FHL1 CL E G H | 2273 | 3702 | OMIM:300280 | Uruguay faciocardiomusculoskeletal syndrome | . | | | 68 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | FKRP CL E G H | 79147 | 17997 | OMIM:613153 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 | | | | 157 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | FOXF1 CL E G H | 2294 | 3809 | OMIM:265380 | Alveolar capillary dysplasia with misalignment of pulmonary veins | | | | 61 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | GAA CL E G H | 2548 | 4065 | ORPHA:308552 | Glycogen storage disease due to acid maltase deficiency, infantile onset | | | | 407 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | GLA CL E G H | 2717 | 4296 | OMIM:301500 | Fabry disease | | | | 291 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | GLA CL E G H | 2717 | 4296 | ORPHA:324 | Fabry disease | | | | 291 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | GLRX5 CL E G H | 51218 | 20134 | ORPHA:401866 | Childhood-onset spasticity with hyperglycinemia | | | | 17 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | GNPTAB CL E G H | 79158 | 29670 | ORPHA:576 | Mucolipidosis type II | | | | 240 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | GPC3 CL E G H | 2719 | 4451 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | 73 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | GPC4 CL E G H | 2239 | 4452 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | GPR101 CL E G H | 83550 | 14963 | OMIM:300942 | Chromosome Xq26.3 duplication syndrome | . | | | 5 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | GTPBP3 CL E G H | 84705 | 14880 | ORPHA:444013 | Combined oxidative phosphorylation defect type 23 | | | | 30 | | |
HP:0001714 | HP:0001714 | Ventricular 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:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | GYS1 CL E G H | 2997 | 4706 | OMIM:611556 | Glycogen storage disease 0, muscle | | | | 52 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | HADHA CL E G H | 3030 | 4801 | ORPHA:746 | Mitochondrial trifunctional protein deficiency | | | | 99 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | HADHB CL E G H | 3032 | 4803 | ORPHA:746 | Mitochondrial trifunctional protein deficiency | | | | 60 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | HCN4 CL E G H | 10021 | 16882 | OMIM:163800 | Sick sinus syndrome 2 | | | | 185 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | HSD11B2 CL E G H | 3291 | 5209 | ORPHA:320 | Apparent mineralocorticoid excess | | | | 14 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | JPH2 CL E G H | 57158 | 14202 | OMIM:613873 | Cardiomyopathy, familial hypertrophic, 17 | | | | 111 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | KCNJ5 CL E G H | 3762 | 6266 | ORPHA:251274 | Familial hyperaldosteronism type III | | | | 128 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | LAMB2 CL E G H | 3913 | 6487 | ORPHA:98915 | Synaptic congenital myasthenic syndromes | | | | 92 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | LDB3 CL E G H | 11155 | 15710 | OMIM:601493 | Cardiomyopathy, dilated, 1C, with or without left ventricular noncompaction | | | | 286 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040283 - Occasional | | | 645 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:363618 | LMNA-related cardiocutaneous progeria syndrome | HP:0040281 - Very frequent | | | 645 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | LZTR1 CL E G H | 8216 | 6742 | OMIM:616564 | Noonan syndrome 10 | | | | 43 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:99725 | Pituitary gigantism | | | | 462 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | MOGS CL E G H | 7841 | 24862 | ORPHA:79330 | MOGS-CDG | | | | 37 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | MTX2 CL E G H | 10651 | 7506 | OMIM:619127 | MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS | | | | | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | MYBPC3 CL E G H | 4607 | 7551 | OMIM:115197 | Cardiomyopathy, familial hypertrophic, 4 | . | | | 1143 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | MYH6 CL E G H | 4624 | 7576 | OMIM:613251 | Cardiomyopathy, familial hypertrophic, 14 | | | | 452 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | MYH7 CL E G H | 4625 | 7577 | ORPHA:324604 | Classic multiminicore myopathy | | | | 1269 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | MYH7 CL E G H | 4625 | 7577 | OMIM:255160 | Myopathy, myosin storage, autosomal recessive | | | | 1269 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | MYL2 CL E G H | 4633 | 7583 | OMIM:608758 | Cardiomyopathy, familial hypertrophic, 10 | | | | 131 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | MYL2 CL E G H | 4633 | 7583 | OMIM:619424 | MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12 | | | | 131 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | MYL3 CL E G H | 4634 | 7584 | OMIM:608751 | Cardiomyopathy, familial hypertrophic, 8 | | | | 95 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | MYOZ2 CL E G H | 51778 | 1330 | OMIM:613838 | Cardiomyopathy, familial hypertrophic, 16 | | | | 81 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | MYPN CL E G H | 84665 | 23246 | OMIM:615248 | Cardiomyopathy, dilated, 1kk | | | | 217 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | MYRF CL E G H | 745 | 1181 | OMIM:618280 | Cardiac-Urogenital syndrome | | | | 2 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | NAXD CL E G H | 55739 | 25576 | OMIM:618321 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 | | | | | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | ND1 CL E G H | 4535 | 7455 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | ND5 CL E G H | 4540 | 7461 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | ND6 CL E G H | 4541 | 7462 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | NDUFA11 CL E G H | 126328 | 20371 | OMIM:618236 | Mitochondrial complex I deficiency, nuclear type 14 | | | | 32 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | NEXN CL E G H | 91624 | 29557 | OMIM:613876 | Cardiomyopathy, familial hypertrophic, 20 | | | | 167 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | NHLRC2 CL E G H | 374354 | 24731 | OMIM:618278 | Fibrosis, neurodegeneration, and cerebral angiomatosis | | | | | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | NKX2-5 CL E G H | 1482 | 2488 | OMIM:108900 | Atrial septal defect with atrioventricular conduction defects | | | | 90 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | NKX2-6 CL E G H | 137814 | 32940 | ORPHA:3384 | Truncus arteriosus | | | | 3 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | NOD2 CL E G H | 64127 | 5331 | OMIM:617321 | YAO SYNDROME; YAOS | | | | 187 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | NONO CL E G H | 4841 | 7871 | ORPHA:466791 | Macrocephaly-intellectual disability-left ventricular non compaction syndrome | | | | 10 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | NONO CL E G H | 4841 | 7871 | OMIM:300967 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34 | | | | 10 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | NOTCH1 CL E G H | 4851 | 7881 | OMIM:616028 | Adams-Oliver syndrome 5 | | | | 452 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | NPHP3 CL E G H | 27031 | 7907 | OMIM:267010 | MECKEL SYNDROME, TYPE 7; MKS7 | | | | 157 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | NSMCE2 CL E G H | 286053 | 26513 | OMIM:617253 | Seckel syndrome 10 | . | | | 2 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | PIGN CL E G H | 23556 | 8967 | ORPHA:280633 | Multiple congenital anomalies-hypotonia-seizures syndrome | | | | 37 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | PLN CL E G H | 5350 | 9080 | OMIM:613874 | Cardiomyopathy, familial hypertrophic, 18 | | | | 57 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | PLXND1 CL E G H | 23129 | 9107 | ORPHA:3384 | Truncus arteriosus | | | | | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | | | | 464 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | POLG2 CL E G H | 11232 | 9180 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | | | | 45 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:86812 | POMT1-related limb-girdle muscular dystrophy R11 | | | | 213 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | POMT2 CL E G H | 29954 | 19743 | OMIM:613156 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 | | | | 221 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | PRKAG2 CL E G H | 51422 | 9386 | OMIM:261740 | Glycogen storage disease of heart, lethal congenital | | | | 235 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | PSEN1 CL E G H | 5663 | 9508 | OMIM:613694 | Cardiomyopathy, dilated, 1U | | | | 241 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | PSEN2 CL E G H | 5664 | 9509 | OMIM:613697 | Cardiomyopathy, dilated, 1V | | | | 59 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | RIT1 CL E G H | 6016 | 10023 | OMIM:615355 | NOONAN SYNDROME 8; NS8 | | | | 39 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | RNU7-1 CL E G H | 100147744 | 34033 | OMIM:619487 | AICARDI-GOUTIERES SYNDROME 9; AGS9 | | | | | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | RPL5 CL E G H | 6125 | 10360 | OMIM:612561 | Diamond-Blackfan anemia 6 | . | | | 40 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | RRM2B CL E G H | 50484 | 17296 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | | | | 125 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | | | | 1200 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | SCN5A CL E G H | 6331 | 10593 | OMIM:614022 | Atrial fibrillation, familial, 10 | | | | 1134 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | SCO1 CL E G H | 6341 | 10603 | OMIM:619048 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4 | | | | 46 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | SDHA CL E G H | 6389 | 10680 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | | | | 304 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | SDHAF1 CL E G H | 644096 | 33867 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | | | | 16 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | | | | 237 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | | | | 129 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | SDHD CL E G H | 6392 | 10683 | OMIM:619167 | MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3 | | | | 129 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | SELENON CL E G H | 57190 | 15999 | ORPHA:324604 | Classic multiminicore myopathy | | | | 144 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | SFTPB CL E G H | 6439 | 10801 | ORPHA:217563 | Neonatal acute respiratory distress due to SP-B deficiency | | | | 51 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | SGCD CL E G H | 6444 | 10807 | OMIM:601287 | Muscular dystrophy, limb-girdle, type 2F | . | | | 223 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | SGCG CL E G H | 6445 | 10809 | ORPHA:353 | Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 | | | | 83 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | SLC25A12 CL E G H | 8604 | 10982 | OMIM:612949 | Epileptic encephalopathy, early infantile, 39 | | | | 44 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | SLC25A20 CL E G H | 788 | 1421 | OMIM:212138 | Carnitine-acylcarnitine translocase deficiency | . | | | 40 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | SLC25A24 CL E G H | 29957 | 20662 | OMIM:612289 | Fontaine progeroid syndrome | | | | | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | SLC25A4 CL E G H | 291 | 10990 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | | | | 68 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | SLC25A4 CL E G H | 291 | 10990 | OMIM:615418 | Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type) | | | | 68 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | SLC2A10 CL E G H | 81031 | 13444 | OMIM:208050 | Arterial tortuosity syndrome | . | | | 178 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | SMAD2 CL E G H | 4087 | 6768 | OMIM:619656 | LOEYS-DIETZ SYNDROME 6; LDS6 | | | | 7 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | SMAD3 CL E G H | 4088 | 6769 | ORPHA:284984 | Aneurysm-osteoarthritis syndrome | | | | 260 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | SMAD3 CL E G H | 4088 | 6769 | OMIM:613795 | LOEYS-DIETZ SYNDROME 3; LDS3 | | | | 260 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | SPEG CL E G H | 10290 | 16901 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | | | | 20 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | STAMBP CL E G H | 10617 | 16950 | OMIM:614261 | Microcephaly-Capillary malformation syndrome | | | | 24 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | SVIL CL E G H | 6840 | 11480 | OMIM:619040 | MYOFIBRILLAR MYOPATHY 10; MFM10 | | | | 1 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | TALDO1 CL E G H | 6888 | 11559 | ORPHA:101028 | Transaldolase deficiency | | | | 34 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | TCAP CL E G H | 8557 | 11610 | OMIM:607487 | Cardiomyopathy, familial hypertrophic, 25 | | | | 78 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | TLL1 CL E G H | 7092 | 11843 | ORPHA:99106 | Atrial septal defect, ostium primum type | | | | 6 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | TNNC1 CL E G H | 7134 | 11943 | OMIM:613243 | Cardiomyopathy, familial hypertrophic, 13 | | | | 73 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | TNNI3 CL E G H | 7137 | 11947 | OMIM:613690 | Cardiomyopathy, familial hypertrophic, 7 | . | | | 180 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | TNNI3 CL E G H | 7137 | 11947 | OMIM:115210 | CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1 | | | | 180 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | TNNT2 CL E G H | 7139 | 11949 | OMIM:601494 | Cardiomyopathy, dilated, 1D | | | | 248 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | TPK1 CL E G H | 27010 | 17358 | OMIM:614458 | Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) | | | | 21 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | TRMT10C CL E G H | 54931 | 26022 | OMIM:616974 | Combined oxidative phosphorylation deficiency 30 | | | | 3 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | TRNC CL E G H | 4511 | 7477 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | TRNF CL E G H | 4558 | 7481 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | TRNK CL E G H | 4566 | 7489 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | TRNL1 CL E G H | 4567 | 7490 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | TRNQ CL E G H | 4572 | 7495 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | TRNS1 CL E G H | 4574 | 7497 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | TRNS2 CL E G H | 4575 | 7498 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | TRNV CL E G H | 4577 | 7500 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | TRNW CL E G H | 4578 | 7501 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | TTN CL E G H | 7273 | 12403 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | | | | 7128 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | TTN CL E G H | 7273 | 12403 | ORPHA:324604 | Classic multiminicore myopathy | | | | 7128 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | TTR CL E G H | 7276 | 12405 | ORPHA:85451 | ATTRV122I amyloidosis | | | | 107 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | TWNK CL E G H | 56652 | 1160 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | | | | 113 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | VIPAS39 CL E G H | 63894 | 20347 | OMIM:613404 | Arthrogryposis, renal dysfunction, and cholestasis 2 | | | | 27 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | VPS33B CL E G H | 26276 | 12712 | OMIM:208085 | Arthrogryposis, renal dysfunction, and cholestasis 1 | | | | 63 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | WAC CL E G H | 51322 | 17327 | ORPHA:284169 | Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion | HP:0040283 - Occasional | | | 20 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | WDR35 CL E G H | 57539 | 29250 | OMIM:613610 | Cranioectodermal dysplasia 2 | | | | 136 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040283 - Occasional | | | 83 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | ZNF462 CL E G H | 58499 | 21684 | OMIM:618619 | WEISS-KRUSZKA SYNDROME; WSKA | | | | 4 | | |
HP:0001714 | HP:0001714 | Ventricular hypertrophy | 0 | ZNF687 CL E G H | 57592 | 29277 | OMIM:616833 | Paget disease of bone 6 | | | | 2 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | ABCA1 CL E G H | 19 | 29 | OMIM:205400 | Tangier disease | . | | | 191 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | ABCA1 CL E G H | 19 | 29 | ORPHA:31150 | Tangier disease | HP:0040283 - Occasional | | | 191 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | ABCC9 CL E G H | 10060 | 60 | OMIM:239850 | Hypertrichotic osteochondrodysplasia | | | | 254 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | ACTC1 CL E G H | 70 | 143 | OMIM:613424 | Cardiomyopathy, dilated, 1R | HP:0040283 - Occasional | | | 208 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | ACTC1 CL E G H | 70 | 143 | OMIM:612098 | Cardiomyopathy, familial hypertrophic, 11 | | | | 208 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | ACTN2 CL E G H | 88 | 164 | OMIM:612158 | Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction | HP:0040283 - Occasional | | | 307 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | ADAM17 CL E G H | 6868 | 195 | ORPHA:294023 | Neonatal inflammatory skin and bowel disease | HP:0040283 - Occasional | | | 2 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | AIP CL E G H | 9049 | 358 | OMIM:102200 | Pituitary adenoma, growth hormone-secreting, 1 | . | | | 95 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | AIP CL E G H | 9049 | 358 | ORPHA:99725 | Pituitary gigantism | HP:0040281 - Very frequent | | | 95 | | |
HP:0001714 | HP:0200128 | Biventricular hypertrophy | 1 | ALG12 CL E G H | 79087 | 19358 | ORPHA:79324 | ALG12-CDG | HP:0040284 - Very rare | | | 68 | | |
HP:0001714 | HP:0001667 | Right ventricular hypertrophy | 1 | ALPK3 CL E G H | 57538 | 17574 | OMIM:618052 | Cardiomyopathy, familial hypertrophic 27 | | | | 89 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | ARL6 CL E G H | 84100 | 13210 | OMIM:209900 | Bardet-Biedl syndrome 1 | . | | | 29 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | ARSK CL E G H | 153642 | 25239 | OMIM:619698 | MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10 | | | | | | |
HP:0001714 | HP:0001667 | Right ventricular hypertrophy | 1 | ATP13A3 CL E G H | 79572 | 24113 | OMIM:265400 | Pulmonary hypertension, primary, autosomal recessive | . | | | | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | ATP6AP2 CL E G H | 10159 | 18305 | ORPHA:93952 | X-linked intellectual disability, Hedera type | HP:0040283 - Occasional | | | 36 | | |
HP:0001714 | HP:0200128 | Biventricular hypertrophy | 1 | ATP6V1E1 CL E G H | 529 | 857 | OMIM:617402 | Cutis laxa, autosomal recessive, type IIC | . | | | 2 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | B3GAT3 CL E G H | 26229 | 923 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | . | | | 5 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | BBS1 CL E G H | 582 | 966 | OMIM:209900 | Bardet-Biedl syndrome 1 | . | | | 114 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | BIN1 CL E G H | 274 | 1052 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | HP:0040283 - Occasional | | | 99 | | |
HP:0001714 | HP:0001667 | Right ventricular hypertrophy | 1 | BMPR2 CL E G H | 659 | 1078 | OMIM:178600 | Pulmonary hypertension, primary, 1 | | | | 525 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | C1QBP CL E G H | 708 | 1243 | OMIM:617713 | Combined oxidative phosphorylation deficiency 33 | . | | | | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | CACNA1D CL E G H | 776 | 1391 | OMIM:615474 | Primary aldosteronism, seizures, and neurologic abnormalities | . | | | 51 | | |
HP:0001714 | HP:0200128 | Biventricular hypertrophy | 1 | CACNA1D CL E G H | 776 | 1391 | OMIM:615474 | Primary aldosteronism, seizures, and neurologic abnormalities | HP:0040283 - Occasional | | | 51 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | CCDC28B CL E G H | 79140 | 28163 | OMIM:209900 | Bardet-Biedl syndrome 1 | . | | | 4 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | CHST3 CL E G H | 9469 | 1971 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | . | | | 165 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | CLN3 CL E G H | 1201 | 2074 | ORPHA:228346 | CLN3 disease | | | | 216 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | COG1 CL E G H | 9382 | 6545 | OMIM:611209 | Congenital disorder of glycosylation, type IIg | | | | 52 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | COL1A2 CL E G H | 1278 | 2198 | ORPHA:230851 | Cardiac-valvular Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 243 | | |
HP:0001714 | HP:0001667 | Right ventricular hypertrophy | 1 | COLQ CL E G H | 8292 | 2226 | ORPHA:98915 | Synaptic congenital myasthenic syndromes | HP:0040284 - Very rare | | | 90 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | COQ7 CL E G H | 10229 | 2244 | OMIM:616733 | Coenzyme Q10 deficiency, primary, 8 | . | | | 1 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | COQ9 CL E G H | 57017 | 25302 | OMIM:614654 | Coenzyme Q10 deficiency, primary, 5 | . | | | 44 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | COX1 CL E G H | 4512 | 7419 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | COX16 CL E G H | 51241 | 20213 | OMIM:619355 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22 | | | | | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | COX2 CL E G H | 4513 | 7421 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | COX3 CL E G H | 4514 | 7422 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | CYTB CL E G H | 4519 | 7427 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0001714 | HP:0200128 | Biventricular hypertrophy | 1 | DEF6 CL E G H | 50619 | 2760 | OMIM:619573 | IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87 | | | | | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | DMD CL E G H | 1756 | 2928 | ORPHA:206546 | Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers | | | | 1496 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | DTNA CL E G H | 1837 | 3057 | OMIM:604169 | Left ventricular noncompaction 1 | | | | 163 | | |
HP:0001714 | HP:0001667 | Right ventricular hypertrophy | 1 | DYSF CL E G H | 8291 | 3097 | ORPHA:268 | Dysferlin-related limb-girdle muscular dystrophy R2 | HP:0040283 - Occasional | | | 600 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | EGFR CL E G H | 1956 | 3236 | ORPHA:294023 | Neonatal inflammatory skin and bowel disease | HP:0040283 - Occasional | | | 257 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | . | | | 40 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | ESPN CL E G H | 83715 | 13281 | OMIM:618632 | USHER SYNDROME, TYPE 1M; USH1M | | | | 33 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | FKRP CL E G H | 79147 | 17997 | OMIM:613153 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 | . | | | 157 | | |
HP:0001714 | HP:0001667 | Right ventricular hypertrophy | 1 | FOXF1 CL E G H | 2294 | 3809 | OMIM:265380 | Alveolar capillary dysplasia with misalignment of pulmonary veins | | | | 61 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | GAA CL E G H | 2548 | 4065 | ORPHA:308552 | Glycogen storage disease due to acid maltase deficiency, infantile onset | HP:0040281 - Very frequent | | | 407 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | GLA CL E G H | 2717 | 4296 | ORPHA:324 | Fabry disease | HP:0040283 - Occasional | | | 291 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | GLA CL E G H | 2717 | 4296 | OMIM:301500 | Fabry disease | . | | | 291 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | GLRX5 CL E G H | 51218 | 20134 | ORPHA:401866 | Childhood-onset spasticity with hyperglycinemia | HP:0040284 - Very rare | | | 17 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | GNPTAB CL E G H | 79158 | 29670 | ORPHA:576 | Mucolipidosis type II | HP:0040283 - Occasional | | | 240 | | |
HP:0001714 | HP:0001667 | Right ventricular hypertrophy | 1 | GPC3 CL E G H | 2719 | 4451 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | 73 | | |
HP:0001714 | HP:0001667 | Right ventricular hypertrophy | 1 | GPC4 CL E G H | 2239 | 4452 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | GTPBP3 CL E G H | 84705 | 14880 | ORPHA:444013 | Combined oxidative phosphorylation defect type 23 | HP:0040283 - Occasional | | | 30 | | |
HP:0001714 | HP:0001667 | Right ventricular hypertrophy | 1 | GTPBP3 CL E G H | 84705 | 14880 | ORPHA:444013 | Combined oxidative phosphorylation defect type 23 | HP:0040283 - Occasional | | | 30 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | GYS1 CL E G H | 2997 | 4706 | OMIM:611556 | Glycogen storage disease 0, muscle | . | | | 52 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | HADHA CL E G H | 3030 | 4801 | ORPHA:746 | Mitochondrial trifunctional protein deficiency | HP:0040282 - Frequent | | | 99 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | HADHB CL E G H | 3032 | 4803 | ORPHA:746 | Mitochondrial trifunctional protein deficiency | HP:0040282 - Frequent | | | 60 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | HCN4 CL E G H | 10021 | 16882 | OMIM:163800 | Sick sinus syndrome 2 | HP:0040283 - Occasional | | | 185 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | HSD11B2 CL E G H | 3291 | 5209 | ORPHA:320 | Apparent mineralocorticoid excess | HP:0040283 - Occasional | | | 14 | | |
HP:0001714 | HP:0001667 | Right ventricular hypertrophy | 1 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | JPH2 CL E G H | 57158 | 14202 | OMIM:613873 | Cardiomyopathy, familial hypertrophic, 17 | . | | | 111 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | KCNJ5 CL E G H | 3762 | 6266 | ORPHA:251274 | Familial hyperaldosteronism type III | HP:0040283 - Occasional | | | 128 | | |
HP:0001714 | HP:0001667 | Right ventricular hypertrophy | 1 | LAMB2 CL E G H | 3913 | 6487 | ORPHA:98915 | Synaptic congenital myasthenic syndromes | HP:0040284 - Very rare | | | 92 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | LDB3 CL E G H | 11155 | 15710 | OMIM:601493 | Cardiomyopathy, dilated, 1C, with or without left ventricular noncompaction | HP:0040283 - Occasional | | | 286 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | LZTR1 CL E G H | 8216 | 6742 | OMIM:616564 | Noonan syndrome 10 | | | | 43 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | MEN1 CL E G H | 4221 | 7010 | ORPHA:99725 | Pituitary gigantism | HP:0040281 - Very frequent | | | 462 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | MOGS CL E G H | 7841 | 24862 | ORPHA:79330 | MOGS-CDG | HP:0040283 - Occasional | | | 37 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | MTX2 CL E G H | 10651 | 7506 | OMIM:619127 | MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS | | | | | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | MYH6 CL E G H | 4624 | 7576 | OMIM:613251 | Cardiomyopathy, familial hypertrophic, 14 | | | | 452 | | |
HP:0001714 | HP:0001667 | Right ventricular hypertrophy | 1 | MYH7 CL E G H | 4625 | 7577 | ORPHA:324604 | Classic multiminicore myopathy | HP:0040283 - Occasional | | | 1269 | | |
HP:0001714 | HP:0200128 | Biventricular hypertrophy | 1 | MYH7 CL E G H | 4625 | 7577 | OMIM:255160 | Myopathy, myosin storage, autosomal recessive | | | | 1269 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | MYL2 CL E G H | 4633 | 7583 | OMIM:608758 | Cardiomyopathy, familial hypertrophic, 10 | . | | | 131 | | |
HP:0001714 | HP:0200128 | Biventricular hypertrophy | 1 | MYL2 CL E G H | 4633 | 7583 | OMIM:619424 | MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12 | | | | 131 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | MYL3 CL E G H | 4634 | 7584 | OMIM:608751 | Cardiomyopathy, familial hypertrophic, 8 | . | | | 95 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | MYOZ2 CL E G H | 51778 | 1330 | OMIM:613838 | Cardiomyopathy, familial hypertrophic, 16 | . | | | 81 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | MYPN CL E G H | 84665 | 23246 | OMIM:615248 | Cardiomyopathy, dilated, 1kk | HP:0040283 - Occasional | | | 217 | | |
HP:0001714 | HP:0200128 | Biventricular hypertrophy | 1 | MYRF CL E G H | 745 | 1181 | OMIM:618280 | Cardiac-Urogenital syndrome | | | | 2 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | NAXD CL E G H | 55739 | 25576 | OMIM:618321 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 | | | | | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | ND1 CL E G H | 4535 | 7455 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | ND5 CL E G H | 4540 | 7461 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | ND6 CL E G H | 4541 | 7462 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0001714 | HP:0200128 | Biventricular hypertrophy | 1 | NDUFA11 CL E G H | 126328 | 20371 | OMIM:618236 | Mitochondrial complex I deficiency, nuclear type 14 | | | | 32 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | NEXN CL E G H | 91624 | 29557 | OMIM:613876 | Cardiomyopathy, familial hypertrophic, 20 | . | | | 167 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | NKX2-5 CL E G H | 1482 | 2488 | OMIM:108900 | Atrial septal defect with atrioventricular conduction defects | HP:0040283 - Occasional | | | 90 | | |
HP:0001714 | HP:0001667 | Right ventricular hypertrophy | 1 | NKX2-6 CL E G H | 137814 | 32940 | ORPHA:3384 | Truncus arteriosus | HP:0040282 - Frequent | | | 3 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | NONO CL E G H | 4841 | 7871 | ORPHA:466791 | Macrocephaly-intellectual disability-left ventricular non compaction syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0001714 | HP:0001667 | Right ventricular hypertrophy | 1 | NONO CL E G H | 4841 | 7871 | ORPHA:466791 | Macrocephaly-intellectual disability-left ventricular non compaction syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0001714 | HP:0001667 | Right ventricular hypertrophy | 1 | NONO CL E G H | 4841 | 7871 | OMIM:300967 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34 | | | | 10 | | |
HP:0001714 | HP:0001667 | Right ventricular hypertrophy | 1 | NOTCH1 CL E G H | 4851 | 7881 | OMIM:616028 | Adams-Oliver syndrome 5 | . | | | 452 | | |
HP:0001714 | HP:0001667 | Right ventricular hypertrophy | 1 | NPHP3 CL E G H | 27031 | 7907 | OMIM:267010 | MECKEL SYNDROME, TYPE 7; MKS7 | | | | 157 | | |
HP:0001714 | HP:0001667 | Right ventricular hypertrophy | 1 | PIGN CL E G H | 23556 | 8967 | ORPHA:280633 | Multiple congenital anomalies-hypotonia-seizures syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | PLN CL E G H | 5350 | 9080 | OMIM:613874 | Cardiomyopathy, familial hypertrophic, 18 | . | | | 57 | | |
HP:0001714 | HP:0001667 | Right ventricular hypertrophy | 1 | PLXND1 CL E G H | 23129 | 9107 | ORPHA:3384 | Truncus arteriosus | HP:0040282 - Frequent | | | | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | POLG CL E G H | 5428 | 9179 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 464 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | POLG2 CL E G H | 11232 | 9180 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 45 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | POMT1 CL E G H | 10585 | 9202 | ORPHA:86812 | POMT1-related limb-girdle muscular dystrophy R11 | HP:0040283 - Occasional | | | 213 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | POMT2 CL E G H | 29954 | 19743 | OMIM:613156 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 | HP:0040283 - Occasional | | | 221 | | |
HP:0001714 | HP:0200128 | Biventricular hypertrophy | 1 | PRKAG2 CL E G H | 51422 | 9386 | OMIM:261740 | Glycogen storage disease of heart, lethal congenital | . | | | 235 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | PSEN1 CL E G H | 5663 | 9508 | OMIM:613694 | Cardiomyopathy, dilated, 1U | | | | 241 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | PSEN2 CL E G H | 5664 | 9509 | OMIM:613697 | Cardiomyopathy, dilated, 1V | | | | 59 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | RIT1 CL E G H | 6016 | 10023 | OMIM:615355 | NOONAN SYNDROME 8; NS8 | | | | 39 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | RNU7-1 CL E G H | 100147744 | 34033 | OMIM:619487 | AICARDI-GOUTIERES SYNDROME 9; AGS9 | | | | | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | RRM2B CL E G H | 50484 | 17296 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 125 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | RYR1 CL E G H | 6261 | 10483 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | HP:0040283 - Occasional | | | 1200 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | SCN5A CL E G H | 6331 | 10593 | OMIM:614022 | Atrial fibrillation, familial, 10 | HP:0040283 - Occasional | | | 1134 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | SCO1 CL E G H | 6341 | 10603 | OMIM:619048 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4 | | | | 46 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | SDHA CL E G H | 6389 | 10680 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040282 - Frequent | | | 304 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | SDHAF1 CL E G H | 644096 | 33867 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040282 - Frequent | | | 16 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | SDHB CL E G H | 6390 | 10681 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040282 - Frequent | | | 237 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | SDHD CL E G H | 6392 | 10683 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040282 - Frequent | | | 129 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | SDHD CL E G H | 6392 | 10683 | OMIM:619167 | MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3 | | | | 129 | | |
HP:0001714 | HP:0001667 | Right ventricular hypertrophy | 1 | SELENON CL E G H | 57190 | 15999 | ORPHA:324604 | Classic multiminicore myopathy | HP:0040283 - Occasional | | | 144 | | |
HP:0001714 | HP:0001667 | Right ventricular hypertrophy | 1 | SFTPB CL E G H | 6439 | 10801 | ORPHA:217563 | Neonatal acute respiratory distress due to SP-B deficiency | HP:0040283 - Occasional | | | 51 | | |
HP:0001714 | HP:0001667 | Right ventricular hypertrophy | 1 | SGCG CL E G H | 6445 | 10809 | ORPHA:353 | Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 | HP:0040282 - Frequent | | | 83 | | |
HP:0001714 | HP:0001667 | Right ventricular hypertrophy | 1 | SLC25A12 CL E G H | 8604 | 10982 | OMIM:612949 | Epileptic encephalopathy, early infantile, 39 | | | | 44 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | SLC25A24 CL E G H | 29957 | 20662 | OMIM:612289 | Fontaine progeroid syndrome | . | | | | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | SLC25A4 CL E G H | 291 | 10990 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 68 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | SLC25A4 CL E G H | 291 | 10990 | OMIM:615418 | Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type) | | | | 68 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | SMAD3 CL E G H | 4088 | 6769 | ORPHA:284984 | Aneurysm-osteoarthritis syndrome | HP:0040283 - Occasional | | | 260 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | SMAD3 CL E G H | 4088 | 6769 | OMIM:613795 | LOEYS-DIETZ SYNDROME 3; LDS3 | | | | 260 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | SPEG CL E G H | 10290 | 16901 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | HP:0040283 - Occasional | | | 20 | | |
HP:0001714 | HP:0001667 | Right ventricular hypertrophy | 1 | STAMBP CL E G H | 10617 | 16950 | OMIM:614261 | Microcephaly-Capillary malformation syndrome | . | | | 24 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | SVIL CL E G H | 6840 | 11480 | OMIM:619040 | MYOFIBRILLAR MYOPATHY 10; MFM10 | | | | 1 | | |
HP:0001714 | HP:0200128 | Biventricular hypertrophy | 1 | TALDO1 CL E G H | 6888 | 11559 | ORPHA:101028 | Transaldolase deficiency | HP:0040283 - Occasional | | | 34 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | TCAP CL E G H | 8557 | 11610 | OMIM:607487 | Cardiomyopathy, familial hypertrophic, 25 | HP:0040283 - Occasional | | | 78 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | TLL1 CL E G H | 7092 | 11843 | ORPHA:99106 | Atrial septal defect, ostium primum type | HP:0040282 - Frequent | | | 6 | | |
HP:0001714 | HP:0200128 | Biventricular hypertrophy | 1 | TNNC1 CL E G H | 7134 | 11943 | OMIM:613243 | Cardiomyopathy, familial hypertrophic, 13 | . | | | 73 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | TNNI3 CL E G H | 7137 | 11947 | OMIM:115210 | CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1 | | | | 180 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | TNNT2 CL E G H | 7139 | 11949 | OMIM:601494 | Cardiomyopathy, dilated, 1D | HP:0040283 - Occasional | | | 248 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | TPK1 CL E G H | 27010 | 17358 | OMIM:614458 | Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) | HP:0040283 - Occasional | | | 21 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | TRMT10C CL E G H | 54931 | 26022 | OMIM:616974 | Combined oxidative phosphorylation deficiency 30 | HP:0040283 - Occasional | | | 3 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | TRNC CL E G H | 4511 | 7477 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | TRNF CL E G H | 4558 | 7481 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | TRNK CL E G H | 4566 | 7489 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | TRNL1 CL E G H | 4567 | 7490 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | TRNQ CL E G H | 4572 | 7495 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | TRNS1 CL E G H | 4574 | 7497 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | TRNS2 CL E G H | 4575 | 7498 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | TRNV CL E G H | 4577 | 7500 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | TRNW CL E G H | 4578 | 7501 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | TTN CL E G H | 7273 | 12403 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | HP:0040283 - Occasional | | | 7128 | | |
HP:0001714 | HP:0001667 | Right ventricular hypertrophy | 1 | TTN CL E G H | 7273 | 12403 | ORPHA:324604 | Classic multiminicore myopathy | HP:0040283 - Occasional | | | 7128 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | TTR CL E G H | 7276 | 12405 | ORPHA:85451 | ATTRV122I amyloidosis | | | | 107 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | TWNK CL E G H | 56652 | 1160 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 113 | | |
HP:0001714 | HP:0001667 | Right ventricular hypertrophy | 1 | VIPAS39 CL E G H | 63894 | 20347 | OMIM:613404 | Arthrogryposis, renal dysfunction, and cholestasis 2 | . | | | 27 | | |
HP:0001714 | HP:0001667 | Right ventricular hypertrophy | 1 | VPS33B CL E G H | 26276 | 12712 | OMIM:208085 | Arthrogryposis, renal dysfunction, and cholestasis 1 | . | | | 63 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | WDR35 CL E G H | 57539 | 29250 | OMIM:613610 | Cranioectodermal dysplasia 2 | . | | | 136 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | ZNF462 CL E G H | 58499 | 21684 | OMIM:618619 | WEISS-KRUSZKA SYNDROME; WSKA | | | | 4 | | |
HP:0001714 | HP:0001712 | Left ventricular hypertrophy | 1 | ZNF687 CL E G H | 57592 | 29277 | OMIM:616833 | Paget disease of bone 6 | HP:0040283 - Occasional | | | 2 | | |
HP:0001714 | HP:0005129 | Congenital hypertrophy of left ventricle | 2 | ABCC9 CL E G H | 10060 | 60 | OMIM:239850 | Hypertrichotic osteochondrodysplasia | . | | | 254 | | |