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:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | AARS2 CL E G H | 57505 | 21022 | OMIM:614096 | Combined oxidative phosphorylation deficiency 8 | . | | | 143 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | ABCC8 CL E G H | 6833 | 59 | ORPHA:276575 | Autosomal dominant hyperinsulinism due to SUR1 deficiency | HP:0040283 - Occasional | | | 245 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | ABCC9 CL E G H | 10060 | 60 | ORPHA:1517 | Hypertrichotic osteochondrodysplasia, Cantu type | HP:0040283 - Occasional | | | 254 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | ACAD9 CL E G H | 28976 | 21497 | ORPHA:99901 | Acyl-CoA dehydrogenase 9 deficiency | HP:0040282 - Frequent | | | 98 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | ACAD9 CL E G H | 28976 | 21497 | OMIM:611126 | Mitochondrial complex I deficiency due to acad9 deficiency | . | | | 98 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | ACADVL CL E G H | 37 | 92 | OMIM:201475 | Very long-chain acyl-CoA dehydrogenase deficiency | | | | 200 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | ACTC1 CL E G H | 70 | 143 | OMIM:612098 | Cardiomyopathy, familial hypertrophic, 11 | . | | | 208 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | ACTN2 CL E G H | 88 | 164 | OMIM:612158 | Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction | | | | 307 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | ADAR CL E G H | 103 | 225 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040284 - Very rare | | | 116 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | AGK CL E G H | 55750 | 21869 | ORPHA:1369 | Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome | HP:0040281 - Very frequent | | | 82 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | AGK CL E G H | 55750 | 21869 | OMIM:212350 | Sengers syndrome | . | | | 82 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | AGPAT2 CL E G H | 10555 | 325 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040283 - Occasional | | | 85 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | AIP CL E G H | 9049 | 358 | ORPHA:963 | Acromegaly | HP:0040283 - Occasional | | | 95 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | AIP CL E G H | 9049 | 358 | ORPHA:99725 | Pituitary gigantism | HP:0040281 - Very frequent | | | 95 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | ALPK3 CL E G H | 57538 | 17574 | OMIM:618052 | Cardiomyopathy, familial hypertrophic 27 | | | | 89 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | ANKS6 CL E G H | 203286 | 26724 | OMIM:615382 | Nephronophthisis 16 | HP:0040283 - Occasional | | | 32 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | ATAD3A CL E G H | 55210 | 25567 | OMIM:617183 | Harel-Yoon syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | ATAD3A CL E G H | 55210 | 25567 | ORPHA:496790 | Ocular anomalies-axonal neuropathy-developmental delay syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | ATAD3A CL E G H | 55210 | 25567 | OMIM:618810 | PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL | | | | 5 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | ATP5F1E CL E G H | 514 | 838 | OMIM:614053 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 3 | . | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | ATP5MK CL E G H | 84833 | 30889 | OMIM:618683 | MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6; MC5DN6 | | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | ATP6 CL E G H | 4508 | 7414 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | ATP6V1A CL E G H | 523 | 851 | OMIM:617403 | Cutis laxa, autosomal recessive, type IID | . | | | 3 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | BAG3 CL E G H | 9531 | 939 | OMIM:612954 | Myopathy, myofibrillar, 6 | . | | | 204 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | BCS1L CL E G H | 617 | 1020 | OMIM:124000 | Mitochondrial complex III deficiency, nuclear type 1 | . | | | 72 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | BOLA3 CL E G H | 388962 | 24415 | OMIM:614299 | Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia | . | | | 14 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040283 - Occasional | | | 276 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | BRAF CL E G H | 673 | 1097 | OMIM:115150 | Cardiofaciocutaneous syndrome 1 | | | | 276 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | BRAF CL E G H | 673 | 1097 | OMIM:163950 | Noonan syndrome 1 | | | | 276 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:500 | Noonan syndrome with multiple lentigines | HP:0040281 - Very frequent | | | 276 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | BRCA1 CL E G H | 672 | 1100 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 5769 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | BRCA2 CL E G H | 675 | 1101 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 7642 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | BRIP1 CL E G H | 83990 | 20473 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 1086 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | BSCL2 CL E G H | 26580 | 15832 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040283 - Occasional | | | 105 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | BSCL2 CL E G H | 26580 | 15832 | OMIM:269700 | Lipodystrophy, congenital generalized, type 2 | . | | | 105 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | CAV1 CL E G H | 857 | 1527 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040283 - Occasional | | | 11 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | CAV3 CL E G H | 859 | 1529 | OMIM:192600 | Cardiomyopathy, familial hypertrophic 1 | | | | 148 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | CAVIN1 CL E G H | 284119 | 9688 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040283 - Occasional | | | 48 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | CLN3 CL E G H | 1201 | 2074 | OMIM:204200 | Ceroid lipofuscinosis, neuronal, 3 | | | | 216 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | COA5 CL E G H | 493753 | 33848 | OMIM:616500 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 | . | | | 2 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | COA6 CL E G H | 388753 | 18025 | OMIM:616501 | CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX4 | | | | 8 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | COA8 CL E G H | 84334 | 20492 | ORPHA:436271 | Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy | HP:0040282 - Frequent | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | COQ2 CL E G H | 27235 | 25223 | OMIM:607426 | Coenzyme Q10 deficiency, primary, 1 | . | | | 54 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | COQ4 CL E G H | 51117 | 19693 | OMIM:616276 | Coenzyme Q10 deficiency, primary, 7 | HP:0040283 - Occasional | | | 24 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | COX1 CL E G H | 4512 | 7419 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | COX14 CL E G H | 84987 | 28216 | OMIM:619053 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10; MC4DN10 | | | | 4 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | COX15 CL E G H | 1355 | 2263 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 104 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | COX2 CL E G H | 4513 | 7421 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | COX3 CL E G H | 4514 | 7422 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | COX6B1 CL E G H | 1340 | 2280 | OMIM:619051 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7 | | | | 10 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | COX7B CL E G H | 1349 | 2291 | ORPHA:2556 | Microphthalmia with linear skin defects syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | CPT1A CL E G H | 1374 | 2328 | ORPHA:156 | Carnitine palmitoyl transferase 1A deficiency | HP:0040283 - Occasional | | | 99 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | CRYAB CL E G H | 1410 | 2389 | OMIM:608810 | Myopathy, myofibrillar, 2, mfm2 | . | | | 46 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | CSRP3 CL E G H | 8048 | 2472 | OMIM:612124 | Cardiomyopathy, familial hypertrophic, 12 | | | | 104 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | DES CL E G H | 1674 | 2770 | ORPHA:98909 | Desminopathy | | | | 263 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | DES CL E G H | 1674 | 2770 | OMIM:601419 | Myopathy, myofibrillar, 1 | | | | 263 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | DLD CL E G H | 1738 | 2898 | OMIM:246900 | Dihydrolipoamide dehydrogenase deficiency | . | | | 89 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | ECHS1 CL E G H | 1892 | 3151 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 33 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | ECHS1 CL E G H | 1892 | 3151 | OMIM:616277 | Mitochondrial short-chain enoyl-coa hydratase 1 deficiency | | | | 33 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | ELAC2 CL E G H | 60528 | 14198 | OMIM:615440 | Combined oxidative phosphorylation deficiency 17 | . | | | 67 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 172 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | EMD CL E G H | 2010 | 3331 | ORPHA:98863 | X-linked Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 107 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 158 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | FAH CL E G H | 2184 | 3579 | OMIM:276700 | Tyrosinemia, type I | . | | | 107 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | FANCA CL E G H | 2175 | 3582 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 340 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | FANCB CL E G H | 2187 | 3583 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 58 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | FANCC CL E G H | 2176 | 3584 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 410 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | FANCD2 CL E G H | 2177 | 3585 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 147 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | FANCE CL E G H | 2178 | 3586 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 73 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | FANCF CL E G H | 2188 | 3587 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 87 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | FANCG CL E G H | 2189 | 3588 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 73 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | FANCI CL E G H | 55215 | 25568 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 157 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | FANCL CL E G H | 55120 | 20748 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 53 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | FANCM CL E G H | 57697 | 23168 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 107 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | FASTKD2 CL E G H | 22868 | 29160 | OMIM:618855 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44; COXPD44 | | | | 122 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | FBXL4 CL E G H | 26235 | 13601 | OMIM:615471 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | HP:0040283 - Occasional | | | 384 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | FHL1 CL E G H | 2273 | 3702 | OMIM:300696 | Myopathy, X-linked, with postural muscle atrophy | . | | | 68 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | FHL1 CL E G H | 2273 | 3702 | OMIM:300280 | Uruguay faciocardiomusculoskeletal syndrome | | | | 68 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | FHL1 CL E G H | 2273 | 3702 | ORPHA:98863 | X-linked Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 68 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | FHOD3 CL E G H | 80206 | 26178 | OMIM:619402 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28; CMH28 | | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | FLNC CL E G H | 2318 | 3756 | OMIM:617047 | Cardiomyopathy, familial hypertrophic, 26 | | | | 197 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | FLNC CL E G H | 2318 | 3756 | ORPHA:75249 | Familial isolated restrictive cardiomyopathy | HP:0040283 - Occasional | | | 197 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | FNIP1 CL E G H | 96459 | 29418 | OMIM:619705 | IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93 | | | | 1 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | FOS CL E G H | 2353 | 3796 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040283 - Occasional | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | FOXRED1 CL E G H | 55572 | 26927 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 61 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | FOXRED1 CL E G H | 55572 | 26927 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 61 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | FOXRED1 CL E G H | 55572 | 26927 | OMIM:618241 | Mitochondrial complex I deficiency, nuclear type 19 | HP:0040284 - Very rare | | | 61 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | FTO CL E G H | 79068 | 24678 | OMIM:612938 | Growth retardation, developmental delay, coarse facies, and earlydeath | . | | | 70 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | FXN CL E G H | 2395 | 3951 | OMIM:229300 | Friedreich ataxia 1 | . | | | 18 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | 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:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | GATA4 CL E G H | 2626 | 4173 | ORPHA:251071 | 8p23.1 microdeletion syndrome | HP:0040283 - Occasional | | | 87 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | GLA CL E G H | 2717 | 4296 | ORPHA:324 | Fabry disease | HP:0040283 - Occasional | | | 291 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | GLB1 CL E G H | 2720 | 4298 | OMIM:230500 | GM1-gangliosidosis, type I | . | | | 120 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | . | | | 240 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | GNS CL E G H | 2799 | 4422 | OMIM:252940 | Mucopolysaccharidosis, type IIID | | | | 69 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | GPR101 CL E G H | 83550 | 14963 | ORPHA:963 | Acromegaly | HP:0040283 - Occasional | | | 5 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | GTPBP3 CL E G H | 84705 | 14880 | ORPHA:444013 | Combined oxidative phosphorylation defect type 23 | HP:0040281 - Very frequent | | | 30 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | HADH CL E G H | 3033 | 4799 | OMIM:231530 | 3-Hydroxyacyl-Coa dehydrogenase deficiency | . | | | 41 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | HADH CL E G H | 3033 | 4799 | ORPHA:71212 | Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency | HP:0040284 - Very rare | | | 41 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | HADHA CL E G H | 3030 | 4801 | ORPHA:5 | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | HP:0040282 - Frequent | | | 99 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | HCCS CL E G H | 3052 | 4837 | ORPHA:2556 | Microphthalmia with linear skin defects syndrome | HP:0040282 - Frequent | | | 11 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | HGSNAT CL E G H | 138050 | 26527 | OMIM:252930 | Mucopolysaccharidosis type IIIC | | | | 86 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:3287 | Takayasu arteritis | HP:0040282 - Frequent | | | 4 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | HRAS CL E G H | 3265 | 5173 | ORPHA:3071 | Costello syndrome | HP:0040282 - Frequent | | | 113 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | HRAS CL E G H | 3265 | 5173 | OMIM:218040 | Costello syndrome | . | | | 113 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | HSD17B10 CL E G H | 3028 | 4800 | ORPHA:391428 | HSD10 disease, infantile type | HP:0040283 - Occasional | | | 19 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | HSD17B10 CL E G H | 3028 | 4800 | ORPHA:391457 | HSD10 disease, neonatal type | HP:0040281 - Very frequent | | | 19 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | HSD17B10 CL E G H | 3028 | 4800 | OMIM:300438 | HSD10 mitochondrial disease | . | | | 19 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | IFIH1 CL E G H | 64135 | 18873 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040284 - Very rare | | | 28 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | IFIH1 CL E G H | 64135 | 18873 | OMIM:615846 | Aicardi-Goutieres syndrome 7 | | | | 28 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | IL12B CL E G H | 3593 | 5970 | ORPHA:3287 | Takayasu arteritis | HP:0040282 - Frequent | | | 31 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | INSR CL E G H | 3643 | 6091 | ORPHA:508 | Leprechaunism | HP:0040282 - Frequent | | | 229 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | JPH2 CL E G H | 57158 | 14202 | OMIM:613873 | Cardiomyopathy, familial hypertrophic, 17 | | | | 111 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:276580 | Autosomal dominant hyperinsulinism due to Kir6.2 deficiency | HP:0040283 - Occasional | | | 127 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | KCNJ8 CL E G H | 3764 | 6269 | ORPHA:1517 | Hypertrichotic osteochondrodysplasia, Cantu type | HP:0040283 - Occasional | | | 23 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | KIF20A CL E G H | 10112 | 9787 | ORPHA:75249 | Familial isolated restrictive cardiomyopathy | HP:0040283 - Occasional | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | KLF1 CL E G H | 10661 | 6345 | OMIM:613673 | Anemia, dyserythropoietic congenital, type IV | HP:0040283 - Occasional | | | 42 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040283 - Occasional | | | 196 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | KRAS CL E G H | 3845 | 6407 | OMIM:609942 | Noonan syndrome 3 | | | | 196 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | KRAS CL E G H | 3845 | 6407 | OMIM:600268 | Oculoectodermal syndrome | . | | | 196 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | LAMP2 CL E G H | 3920 | 6501 | OMIM:300257 | Danon disease | . | | | 211 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | LAMP2 CL E G H | 3920 | 6501 | ORPHA:34587 | Glycogen storage disease due to LAMP-2 deficiency | HP:0040281 - Very frequent | | | 211 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | LIAS CL E G H | 11019 | 16429 | OMIM:614462 | Hyperglycinemia, lactic acidosis, and seizures | . | | | 31 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | LIPT1 CL E G H | 51601 | 29569 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 21 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040284 - Very rare | | | 645 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:280365 | Autosomal semi-dominant severe lipodystrophic laminopathy | HP:0040283 - Occasional | | | 645 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:2348 | Familial partial lipodystrophy, Dunnigan type | HP:0040283 - Occasional | | | 645 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | LRP12 CL E G H | 29967 | 31708 | OMIM:164310 | Oculopharyngodistal myopathy 1 | | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | LRPPRC CL E G H | 10128 | 15714 | ORPHA:70472 | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | HP:0040282 - Frequent | | | 191 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | LSM11 CL E G H | 134353 | 30860 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040284 - Very rare | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | LZTR1 CL E G H | 8216 | 6742 | OMIM:616564 | Noonan syndrome 10 | | | | 43 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | LZTR1 CL E G H | 8216 | 6742 | OMIM:605275 | Noonan syndrome 2 | | | | 43 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | MAD2L2 CL E G H | 10459 | 6764 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 1 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | MAP2K1 CL E G H | 5604 | 6840 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040283 - Occasional | | | 134 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | MAP2K1 CL E G H | 5604 | 6840 | OMIM:615279 | Cardiofaciocutaneous syndrome 3 | | | | 134 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | MAP2K1 CL E G H | 5604 | 6840 | OMIM:163950 | Noonan syndrome 1 | | | | 134 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | MAP2K2 CL E G H | 5605 | 6842 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040283 - Occasional | | | 178 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | MAP2K2 CL E G H | 5605 | 6842 | ORPHA:638 | Neurofibromatosis-Noonan syndrome | HP:0040281 - Very frequent | | | 178 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | MC2R CL E G H | 4158 | 6930 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040284 - Very rare | | | 94 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:99725 | Pituitary gigantism | HP:0040281 - Very frequent | | | 462 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | MICOS13 CL E G H | 125988 | 33702 | OMIM:618329 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37 | | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | MIPEP CL E G H | 4285 | 7104 | OMIM:617228 | Combined oxidative phosphorylation deficiency 31 | . | | | 7 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | MLX CL E G H | 6945 | 11645 | ORPHA:3287 | Takayasu arteritis | HP:0040282 - Frequent | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | MRAP CL E G H | 56246 | 1304 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040284 - Very rare | | | 26 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | MRAS CL E G H | 22808 | 7227 | OMIM:618499 | NOONAN SYNDROME 11; NS11 | | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | MRPL3 CL E G H | 11222 | 10379 | OMIM:614582 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9 | | | | 13 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | MRPL44 CL E G H | 65080 | 16650 | OMIM:615395 | Combined oxidative phosphorylation deficiency 16 | . | | | 13 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | MRPS14 CL E G H | 63931 | 14049 | OMIM:618378 | Combined oxidative phosphorylation deficiency 38 | . | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | MRPS22 CL E G H | 56945 | 14508 | OMIM:611719 | Combined oxidative phosphorylation deficiency 5 | . | | | 25 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | MTFMT CL E G H | 123263 | 29666 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 29 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | MTO1 CL E G H | 25821 | 19261 | OMIM:614702 | Combined oxidative phosphorylation deficiency 10 | . | | | 39 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | MYBPC3 CL E G H | 4607 | 7551 | OMIM:115197 | Cardiomyopathy, familial hypertrophic, 4 | . | | | 1143 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | MYH6 CL E G H | 4624 | 7576 | OMIM:192600 | Cardiomyopathy, familial hypertrophic 1 | | | | 452 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | MYH6 CL E G H | 4624 | 7576 | OMIM:613251 | Cardiomyopathy, familial hypertrophic, 14 | . | | | 452 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | MYH7 CL E G H | 4625 | 7577 | OMIM:192600 | Cardiomyopathy, familial hypertrophic 1 | | | | 1269 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | MYH7 CL E G H | 4625 | 7577 | OMIM:255160 | Myopathy, myosin storage, autosomal recessive | . | | | 1269 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | MYL2 CL E G H | 4633 | 7583 | OMIM:608758 | Cardiomyopathy, familial hypertrophic, 10 | . | | | 131 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | MYL2 CL E G H | 4633 | 7583 | OMIM:619424 | MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12 | | | | 131 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | MYL3 CL E G H | 4634 | 7584 | OMIM:608751 | Cardiomyopathy, familial hypertrophic, 8 | | | | 95 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | MYLK2 CL E G H | 85366 | 16243 | OMIM:192600 | Cardiomyopathy, familial hypertrophic 1 | | | | 124 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | MYOZ2 CL E G H | 51778 | 1330 | OMIM:613838 | Cardiomyopathy, familial hypertrophic, 16 | | | | 81 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | MYPN CL E G H | 84665 | 23246 | OMIM:615248 | Cardiomyopathy, dilated, 1kk | HP:0040283 - Occasional | | | 217 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | MYPN CL E G H | 84665 | 23246 | ORPHA:75249 | Familial isolated restrictive cardiomyopathy | HP:0040283 - Occasional | | | 217 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NAGA CL E G H | 4668 | 7631 | ORPHA:79279 | Alpha-N-acetylgalactosaminidase deficiency type 1 | HP:0040283 - Occasional | | | 47 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NAGA CL E G H | 4668 | 7631 | ORPHA:79281 | Alpha-N-acetylgalactosaminidase deficiency type 3 | HP:0040282 - Frequent | | | 47 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NAGLU CL E G H | 4669 | 7632 | OMIM:252920 | Mucopolysaccharidosis type IIIB | | | | 72 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | ND2 CL E G H | 4536 | 7456 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | ND2 CL E G H | 4536 | 7456 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | ND3 CL E G H | 4537 | 7458 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | ND3 CL E G H | 4537 | 7458 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | ND4 CL E G H | 4538 | 7459 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | ND4 CL E G H | 4538 | 7459 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | ND5 CL E G H | 4540 | 7461 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | ND5 CL E G H | 4540 | 7461 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | ND6 CL E G H | 4541 | 7462 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | ND6 CL E G H | 4541 | 7462 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFA1 CL E G H | 4694 | 7683 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 7 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFA10 CL E G H | 4705 | 7684 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 91 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFA10 CL E G H | 4705 | 7684 | OMIM:618243 | Mitochondrial complex I deficiency, nuclear type 22 | . | | | 91 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFA11 CL E G H | 126328 | 20371 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 32 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFA11 CL E G H | 126328 | 20371 | OMIM:618236 | Mitochondrial complex I deficiency, nuclear type 14 | HP:0040284 - Very rare | | | 32 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFA12 CL E G H | 55967 | 23987 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 7 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFA13 CL E G H | 51079 | 17194 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 3 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFA2 CL E G H | 4695 | 7685 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 19 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFA2 CL E G H | 4695 | 7685 | OMIM:618235 | Mitochondrial complex I deficiency, nuclear type 13 | . | | | 19 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFA4 CL E G H | 4697 | 7687 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 4 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFA6 CL E G H | 4700 | 7690 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 1 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFA9 CL E G H | 4704 | 7693 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 27 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFAF1 CL E G H | 51103 | 18828 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 40 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFAF1 CL E G H | 51103 | 18828 | OMIM:618234 | Mitochondrial complex I deficiency, nuclear type 11 | . | | | 40 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFAF2 CL E G H | 91942 | 28086 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 26 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFAF2 CL E G H | 91942 | 28086 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 26 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFAF3 CL E G H | 25915 | 29918 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 31 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFAF3 CL E G H | 25915 | 29918 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040282 - Frequent | | | 31 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFAF4 CL E G H | 29078 | 21034 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 50 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFAF4 CL E G H | 29078 | 21034 | OMIM:618237 | Mitochondrial complex I deficiency, nuclear type 15 | HP:0040284 - Very rare | | | 50 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFAF5 CL E G H | 79133 | 15899 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 34 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFAF5 CL E G H | 79133 | 15899 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 34 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFAF6 CL E G H | 137682 | 28625 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 39 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFAF8 CL E G H | 284184 | 33551 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFB10 CL E G H | 4716 | 7696 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFB11 CL E G H | 54539 | 20372 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 3 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFB11 CL E G H | 54539 | 20372 | ORPHA:2556 | Microphthalmia with linear skin defects syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFB3 CL E G H | 4709 | 7698 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 9 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFB7 CL E G H | 4713 | 7702 | OMIM:620135 | | | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFB8 CL E G H | 4714 | 7703 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040282 - Frequent | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFB9 CL E G H | 4715 | 7704 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 16 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFS1 CL E G H | 4719 | 7707 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 81 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFS1 CL E G H | 4719 | 7707 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 81 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 65 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040282 - Frequent | | | 65 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 65 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFS2 CL E G H | 4720 | 7708 | OMIM:618228 | Mitochondrial complex I deficiency, nuclear type 6 | . | | | 65 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFS3 CL E G H | 4722 | 7710 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 22 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFS3 CL E G H | 4722 | 7710 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 22 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFS4 CL E G H | 4724 | 7711 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 27 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFS4 CL E G H | 4724 | 7711 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 27 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFS4 CL E G H | 4724 | 7711 | OMIM:252010 | Mitochondrial complex I deficiency, nuclear type 1 | | | | 27 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFS6 CL E G H | 4726 | 7713 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 21 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFS7 CL E G H | 374291 | 7714 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 38 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFS7 CL E G H | 374291 | 7714 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 38 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFS8 CL E G H | 4728 | 7715 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 42 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFS8 CL E G H | 4728 | 7715 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 42 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFS8 CL E G H | 4728 | 7715 | OMIM:618222 | Mitochondrial complex I deficiency, nuclear type 2 | . | | | 42 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFV1 CL E G H | 4723 | 7716 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 74 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFV1 CL E G H | 4723 | 7716 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 74 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFV2 CL E G H | 4729 | 7717 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 27 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFV2 CL E G H | 4729 | 7717 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 27 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFV2 CL E G H | 4729 | 7717 | OMIM:618229 | Mitochondrial complex I deficiency, nuclear type 7 | HP:0040284 - Very rare | | | 27 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NEK8 CL E G H | 284086 | 13387 | OMIM:615415 | Renal-Hepatic-Pancreatic dysplasia 2 | . | | | 43 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NEXN CL E G H | 91624 | 29557 | OMIM:613876 | Cardiomyopathy, familial hypertrophic, 20 | | | | 167 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:97685 | 17q11 microdeletion syndrome | HP:0040283 - Occasional | | | 1952 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:363700 | Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion | HP:0040284 - Very rare | | | 1952 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:638 | Neurofibromatosis-Noonan syndrome | HP:0040281 - Very frequent | | | 1952 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NFS1 CL E G H | 9054 | 15910 | OMIM:619386 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52 | | | | 5 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NNT CL E G H | 23530 | 7863 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040284 - Very rare | | | 13 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NRAS CL E G H | 4893 | 7989 | OMIM:613224 | Noonan syndrome 6 | | | | 102 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NUBPL CL E G H | 80224 | 20278 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 89 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | OPA1 CL E G H | 4976 | 8140 | OMIM:616896 | MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14 | | | | 214 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | PALB2 CL E G H | 79728 | 26144 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 1349 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | PDHA1 CL E G H | 5160 | 8806 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 88 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | PET100 CL E G H | 100131801 | 40038 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 6 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | PLN CL E G H | 5350 | 9080 | OMIM:613874 | Cardiomyopathy, familial hypertrophic, 18 | | | | 57 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | PMM2 CL E G H | 5373 | 9115 | ORPHA:79318 | PMM2-CDG | HP:0040284 - Very rare | | | 150 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | PPA2 CL E G H | 27068 | 28883 | OMIM:617222 | Sudden cardiac failure, infantile | HP:0040283 - Occasional | | | 8 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | PPARG CL E G H | 5468 | 9236 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040283 - Occasional | | | 42 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | PPARG CL E G H | 5468 | 9236 | ORPHA:79083 | PPARG-related familial partial lipodystrophy | HP:0040283 - Occasional | | | 42 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | PPP1CB CL E G H | 5500 | 9282 | ORPHA:2701 | Noonan syndrome-like disorder with loose anagen hair | HP:0040282 - Frequent | | | 9 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | PPP1R21 CL E G H | 129285 | 30595 | OMIM:619383 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA | | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | PRKAG2 CL E G H | 51422 | 9386 | OMIM:600858 | Cardiomyopathy, familial hypertrophic, 6 | . | | | 235 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | PRUNE1 CL E G H | 58497 | 13420 | ORPHA:544469 | PRUNE1-related neurological syndrome | | | | 8 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | PTPN11 CL E G H | 5781 | 9644 | OMIM:151100 | Leopard syndrome 1 | | | | 291 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | PTPN11 CL E G H | 5781 | 9644 | OMIM:163950 | Noonan syndrome 1 | | | | 291 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | PTPN11 CL E G H | 5781 | 9644 | ORPHA:500 | Noonan syndrome with multiple lentigines | HP:0040281 - Very frequent | | | 291 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | PYGL CL E G H | 5836 | 9725 | ORPHA:369 | Glycogen storage disease due to liver glycogen phosphorylase deficiency | HP:0040284 - Very rare | | | 71 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | PYGM CL E G H | 5837 | 9726 | ORPHA:368 | Glycogen storage disease due to muscle glycogen phosphorylase deficiency | HP:0040283 - Occasional | | | 166 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | QRSL1 CL E G H | 55278 | 21020 | OMIM:618835 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40 | | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | RAD51 CL E G H | 5888 | 9817 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 9 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | RAD51C CL E G H | 5889 | 9820 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 391 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | RAF1 CL E G H | 5894 | 9829 | OMIM:611554 | LEOPARD SYNDROME 2; LPRD2 | | | | 212 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | RAF1 CL E G H | 5894 | 9829 | OMIM:611553 | Noonan syndrome 5 | | | | 212 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | RAF1 CL E G H | 5894 | 9829 | ORPHA:500 | Noonan syndrome with multiple lentigines | HP:0040281 - Very frequent | | | 212 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | RFWD3 CL E G H | 55159 | 25539 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | RIT1 CL E G H | 6016 | 10023 | OMIM:615355 | NOONAN SYNDROME 8; NS8 | | | | 39 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | RNASEH2A CL E G H | 10535 | 18518 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040284 - Very rare | | | 33 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | RNASEH2B CL E G H | 79621 | 25671 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040284 - Very rare | | | 34 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | RNASEH2C CL E G H | 84153 | 24116 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040284 - Very rare | | | 60 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | RNU7-1 CL E G H | 100147744 | 34033 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040284 - Very rare | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | SAMHD1 CL E G H | 25939 | 15925 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040284 - Very rare | | | 55 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | SARDH CL E G H | 1757 | 10536 | ORPHA:3129 | Sarcosinemia | HP:0040283 - Occasional | | | 4 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | SCO2 CL E G H | 9997 | 10604 | OMIM:604377 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | . | | | 40 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | SCO2 CL E G H | 9997 | 10604 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040282 - Frequent | | | 40 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | SDHA CL E G H | 6389 | 10680 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040282 - Frequent | | | 304 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | SDHA CL E G H | 6389 | 10680 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 304 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | SDHA CL E G H | 6389 | 10680 | OMIM:252011 | Mitochondrial complex II deficiency | . | | | 304 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | SDHAF1 CL E G H | 644096 | 33867 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040282 - Frequent | | | 16 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040282 - Frequent | | | 237 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040282 - Frequent | | | 129 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | SGSH CL E G H | 6448 | 10818 | OMIM:252900 | Mucopolysaccharidosis type IIIA | | | | 97 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | SHMT2 CL E G H | 6472 | 10852 | OMIM:619121 | NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB | | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | SHOC2 CL E G H | 8036 | 15454 | ORPHA:2701 | Noonan syndrome-like disorder with loose anagen hair | HP:0040282 - Frequent | | | 74 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | SHOC2 CL E G H | 8036 | 15454 | OMIM:607721 | Noonan syndrome-like with loose anagen hair 1 | | | | 74 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | SLC19A3 CL E G H | 80704 | 16266 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 110 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | SLC22A5 CL E G H | 6584 | 10969 | OMIM:212140 | Carnitine deficiency, systemic primary | . | | | 207 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | SLC25A3 CL E G H | 5250 | 10989 | ORPHA:91130 | Cardiomyopathy-hypotonia-lactic acidosis syndrome | HP:0040281 - Very frequent | | | 35 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | SLC25A3 CL E G H | 5250 | 10989 | OMIM:610773 | MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY | | | | 35 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | SLC25A4 CL E G H | 291 | 10990 | ORPHA:1369 | Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome | HP:0040281 - Very frequent | | | 68 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | SLC25A4 CL E G H | 291 | 10990 | OMIM:615418 | Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type) | . | | | 68 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | SLC25A4 CL E G H | 291 | 10990 | OMIM:617184 | Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant | HP:0040283 - Occasional | | | 68 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | SLC2A10 CL E G H | 81031 | 13444 | ORPHA:3342 | Arterial tortuosity syndrome | HP:0040283 - Occasional | | | 178 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | SLC30A10 CL E G H | 55532 | 25355 | ORPHA:309854 | Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome | HP:0040283 - Occasional | | | 42 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | SLX4 CL E G H | 84464 | 23845 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 274 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | SMC1A CL E G H | 8243 | 11111 | OMIM:300590 | Cornelia de Lange syndrome 2 | HP:0040283 - Occasional | | | 135 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | SOS1 CL E G H | 6654 | 11187 | OMIM:610733 | Noonan syndrome 4 | | | | 315 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | SPRED2 CL E G H | 200734 | 17722 | OMIM:619745 | NOONAN SYNDROME 14; NS14 | | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | STAR CL E G H | 6770 | 11359 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040284 - Very rare | | | 45 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | SUCLG1 CL E G H | 8802 | 11449 | ORPHA:17 | Fatal infantile lactic acidosis with methylmalonic aciduria | HP:0040283 - Occasional | | | 60 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | SUFU CL E G H | 51684 | 16466 | OMIM:617757 | Joubert syndrome 32 | . | | | 124 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | SURF1 CL E G H | 6834 | 11474 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040282 - Frequent | | | 73 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | SURF1 CL E G H | 6834 | 11474 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 73 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | SURF1 CL E G H | 6834 | 11474 | OMIM:220110 | Mitochondrial complex IV deficiency | . | | | 73 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040284 - Very rare | | | 1129 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | SYNE2 CL E G H | 23224 | 17084 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040284 - Very rare | | | 508 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | TACO1 CL E G H | 51204 | 24316 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 23 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | TAFAZZIN CL E G H | 6901 | 11577 | OMIM:302060 | Barth syndrome | . | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | TANGO2 CL E G H | 128989 | 25439 | OMIM:616878 | Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration | HP:0040283 - Occasional | | | 12 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | TAPT1 CL E G H | 202018 | 26887 | OMIM:616897 | Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type | . | | | 2 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | TCAP CL E G H | 8557 | 11610 | OMIM:607487 | Cardiomyopathy, familial hypertrophic, 25 | | | | 78 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | TGFB1 CL E G H | 7040 | 11766 | ORPHA:1328 | Camurati-Engelmann disease | HP:0040283 - Occasional | | | 13 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | TIMMDC1 CL E G H | 51300 | 1321 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 1 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | TKFC CL E G H | 26007 | 24552 | ORPHA:1369 | Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | TMEM126A CL E G H | 84233 | 25382 | OMIM:612989 | Optic atrophy 7 with or without auditory neuropathy | HP:0040283 - Occasional | | | 23 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | TMEM126B CL E G H | 55863 | 30883 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 4 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | TMEM126B CL E G H | 55863 | 30883 | OMIM:618250 | Mitochondrial complex I deficiency, nuclear type 29 | . | | | 4 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | TMEM43 CL E G H | 79188 | 28472 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040284 - Very rare | | | 171 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | TMEM70 CL E G H | 54968 | 26050 | OMIM:614052 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 2 | . | | | 63 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | TMEM70 CL E G H | 54968 | 26050 | ORPHA:1194 | TMEM70-related mitochondrial encephalo-cardio-myopathy | HP:0040282 - Frequent | | | 63 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | TNNC1 CL E G H | 7134 | 11943 | OMIM:613243 | Cardiomyopathy, familial hypertrophic, 13 | . | | | 73 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | TNNI3 CL E G H | 7137 | 11947 | OMIM:613690 | Cardiomyopathy, familial hypertrophic, 7 | | | | 180 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | TNNI3 CL E G H | 7137 | 11947 | ORPHA:75249 | Familial isolated restrictive cardiomyopathy | HP:0040283 - Occasional | | | 180 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | TNNT2 CL E G H | 7139 | 11949 | OMIM:115195 | Cardiomyopathy, familial hypertrophic, 2 | . | | | 248 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | TNNT2 CL E G H | 7139 | 11949 | ORPHA:75249 | Familial isolated restrictive cardiomyopathy | HP:0040283 - Occasional | | | 248 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | TPI1 CL E G H | 7167 | 12009 | ORPHA:868 | Triose phosphate-isomerase deficiency | HP:0040283 - Occasional | | | 28 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | TPM1 CL E G H | 7168 | 12010 | OMIM:115196 | Cardiomyopathy, familial hypertrophic, 3 | . | | | 230 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | TREX1 CL E G H | 11277 | 12269 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040284 - Very rare | | | 56 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | TRMT5 CL E G H | 57570 | 23141 | OMIM:616539 | Combined oxidative phosphorylation deficiency 26 | | | | 4 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | TRNE CL E G H | 4556 | 7479 | ORPHA:225 | Maternally-inherited diabetes and deafness | HP:0040282 - Frequent | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | TRNF CL E G H | 4558 | 7481 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | TRNH CL E G H | 4564 | 7487 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | TRNK CL E G H | 4566 | 7489 | ORPHA:225 | Maternally-inherited diabetes and deafness | HP:0040282 - Frequent | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | TRNK CL E G H | 4566 | 7489 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | TRNK CL E G H | 4566 | 7489 | ORPHA:1349 | Mitochondrial DNA-related cardiomyopathy and hearing loss | HP:0040281 - Very frequent | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:225 | Maternally-inherited diabetes and deafness | HP:0040282 - Frequent | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | TRNN CL E G H | 4570 | 7493 | OMIM:220110 | Mitochondrial complex IV deficiency | . | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | TRNQ CL E G H | 4572 | 7495 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | TRNS1 CL E G H | 4574 | 7497 | OMIM:220110 | Mitochondrial complex IV deficiency | . | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | TRNV CL E G H | 4577 | 7500 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | TRNW CL E G H | 4578 | 7501 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | TRNW CL E G H | 4578 | 7501 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | TSFM CL E G H | 10102 | 12367 | OMIM:610505 | Combined oxidative phosphorylation deficiency 3 | | | | 43 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | TTN CL E G H | 7273 | 12403 | OMIM:613765 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9; CMH9 | | | | 7128 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | TTPA CL E G H | 7274 | 12404 | ORPHA:96 | Ataxia with vitamin E deficiency | HP:0040283 - Occasional | | | 62 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | TTR CL E G H | 7276 | 12405 | ORPHA:85451 | ATTRV122I amyloidosis | | | | 107 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | TULP3 CL E G H | 7289 | 12425 | OMIM:619902 | | | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | TXNRD2 CL E G H | 10587 | 18155 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040284 - Very rare | | | 85 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | UBE2T CL E G H | 29089 | 25009 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 2 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | UCP2 CL E G H | 7351 | 12518 | ORPHA:276556 | Hyperinsulinism due to UCP2 deficiency | HP:0040283 - Occasional | | | 15 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | UQCRFS1 CL E G H | 7386 | 12587 | OMIM:618775 | MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10 | | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | VARS2 CL E G H | 57176 | 21642 | OMIM:615917 | Combined oxidative phosphorylation deficiency 20 | | | | 56 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | VCL CL E G H | 7414 | 12665 | OMIM:613255 | Cardiomyopathy, familial hypertrophic, 15 | . | | | 248 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | VPS33A CL E G H | 65082 | 18179 | ORPHA:505248 | Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders | HP:0040282 - Frequent | | | 1 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | VPS33A CL E G H | 65082 | 18179 | OMIM:617303 | Mucopolysaccharidosis-Plus syndrome | | | | 1 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | XRCC2 CL E G H | 7516 | 12829 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 125 | | |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | YARS2 CL E G H | 51067 | 24249 | OMIM:613561 | Myopathy, lactic acidosis, and sideroblastic anemia 2 | HP:0040283 - Occasional | | | 45 | | |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | ALPK3 CL E G H | 57538 | 17574 | OMIM:618052 | Cardiomyopathy, familial hypertrophic 27 | | | | 89 | | |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | CAV3 CL E G H | 859 | 1529 | OMIM:192600 | Cardiomyopathy, familial hypertrophic 1 | . | | | 148 | | |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | CLN3 CL E G H | 1201 | 2074 | OMIM:204200 | Ceroid lipofuscinosis, neuronal, 3 | . | | | 216 | | |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | COX1 CL E G H | 4512 | 7419 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | COX2 CL E G H | 4513 | 7421 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | COX3 CL E G H | 4514 | 7422 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | DES CL E G H | 1674 | 2770 | ORPHA:98909 | Desminopathy | HP:0040282 - Frequent | | | 263 | | |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | FHOD3 CL E G H | 80206 | 26178 | OMIM:619402 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28; CMH28 | | | | | | |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | FHOD3 CL E G H | 80206 | 26178 | OMIM:619402 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28; CMH28 | | | | | | |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | FHOD3 CL E G H | 80206 | 26178 | OMIM:619402 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28; CMH28 | | | | | | |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | GNS CL E G H | 2799 | 4422 | OMIM:252940 | Mucopolysaccharidosis, type IIID | . | | | 69 | | |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | HGSNAT CL E G H | 138050 | 26527 | OMIM:252930 | Mucopolysaccharidosis type IIIC | . | | | 86 | | |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | MYH6 CL E G H | 4624 | 7576 | OMIM:192600 | Cardiomyopathy, familial hypertrophic 1 | . | | | 452 | | |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | MYH7 CL E G H | 4625 | 7577 | OMIM:192600 | Cardiomyopathy, familial hypertrophic 1 | . | | | 1269 | | |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | MYL2 CL E G H | 4633 | 7583 | OMIM:608758 | Cardiomyopathy, familial hypertrophic, 10 | . | | | 131 | | |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | MYLK2 CL E G H | 85366 | 16243 | OMIM:192600 | Cardiomyopathy, familial hypertrophic 1 | . | | | 124 | | |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | MYOZ2 CL E G H | 51778 | 1330 | OMIM:613838 | Cardiomyopathy, familial hypertrophic, 16 | HP:0040283 - Occasional | | | 81 | | |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | NAGLU CL E G H | 4669 | 7632 | OMIM:252920 | Mucopolysaccharidosis type IIIB | . | | | 72 | | |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | ND1 CL E G H | 4535 | 7455 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | ND4 CL E G H | 4538 | 7459 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | ND5 CL E G H | 4540 | 7461 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | ND6 CL E G H | 4541 | 7462 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | NDUFS4 CL E G H | 4724 | 7711 | OMIM:252010 | Mitochondrial complex I deficiency, nuclear type 1 | | | | 27 | | |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | PRKAG2 CL E G H | 51422 | 9386 | OMIM:600858 | Cardiomyopathy, familial hypertrophic, 6 | . | | | 235 | | |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | SGSH CL E G H | 6448 | 10818 | OMIM:252900 | Mucopolysaccharidosis type IIIA | . | | | 97 | | |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | TNNC1 CL E G H | 7134 | 11943 | OMIM:613243 | Cardiomyopathy, familial hypertrophic, 13 | | | | 73 | | |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | TNNI3 CL E G H | 7137 | 11947 | OMIM:613690 | Cardiomyopathy, familial hypertrophic, 7 | | | | 180 | | |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | TRNF CL E G H | 4558 | 7481 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | TRNH CL E G H | 4564 | 7487 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | TRNQ CL E G H | 4572 | 7495 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | TRNW CL E G H | 4578 | 7501 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | TSFM CL E G H | 10102 | 12367 | OMIM:610505 | Combined oxidative phosphorylation deficiency 3 | . | | | 43 | | |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | VCL CL E G H | 7414 | 12665 | OMIM:613255 | Cardiomyopathy, familial hypertrophic, 15 | | | | 248 | | |