Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
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HPO disease - gene - phenotype typical associations: |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | AARS2 CL E G H | 57505 | 614096 | Combined oxidative phosphorylation deficiency 8 | 614096 | C3279793 | OMIM | 1 | | 543 | 21022 | 612035 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | ACAD9 CL E G H | 28976 | 99901 | | | | ORPHA | 1 | | 771 | 21497 | 611103 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | ACAD9 CL E G H | 28976 | 611126 | Acyl-CoA dehydrogenase family, member 9, deficiency of | 611126 | C1970173 | OMIM | 1 | | 771 | 21497 | 611103 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | ACADL CL E G H | 33 | 99900 | | | | ORPHA | 1 | | 62 | 88 | 609576 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | ACADVL CL E G H | 37 | 201475 | Very long chain acyl-CoA dehydrogenase deficiency | 201475 | C3887523 | OMIM | 1 | | 1594 | 92 | 609575 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | ACTC1 CL E G H | 70 | 612098 | Familial hypertrophic cardiomyopathy 11 | 612098 | C2677506 | OMIM | 1 | | 672 | 143 | 102540 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | AGK CL E G H | 55750 | 1369 | | | | ORPHA | 1 | | 347 | 21869 | 610345 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | AGK CL E G H | 55750 | 212350 | Cataract and cardiomyopathy | 212350 | C1859317 | OMIM | 1 | | 347 | 21869 | 610345 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | AGPAT2 CL E G H | 10555 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 242 | 325 | 603100 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | ALG1 CL E G H | 56052 | 79327 | | | | ORPHA | 1 | | 648 | 18294 | 605907 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | APOPT1 CL E G H | 84334 | 436271 | | | | ORPHA | 1 | | 197 | 20492 | 616003 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | APOPT1 CL E G H | 84334 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 197 | 20492 | 616003 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | ATP5F1E CL E G H | 514 | 614053 | Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3 | 614053 | C3279708 | OMIM | 1 | | 44 | 838 | 606153 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | ATP6V1A CL E G H | 523 | 617403 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID | 617403 | C4479409 | OMIM | 1 | | 229 | 851 | 607027 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | ATPAF2 CL E G H | 91647 | 604273 | Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1 | 604273 | C2700431 | OMIM | 1 | | 281 | 18802 | 608918 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | BAG3 CL E G H | 9531 | 612954 | Myofibrillar myopathy, BAG3-related | 612954 | C2751831 | OMIM | 1 | | 986 | 939 | 603883 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | BCS1L CL E G H | 617 | 124000 | Mitochondrial complex III deficiency | 124000 | C1852372 | OMIM | 1 | | 413 | 1020 | 603647 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | BOLA3 CL E G H | 388962 | 614299 | Multiple mitochondrial dysfunctions syndrome 2 | 614299 | C3280378 | OMIM | 1 | | 102 | 24415 | 613183 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | BRAF CL E G H | 673 | 500 | | | | ORPHA | 1 | | 1182 | 1097 | 164757 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | BRAF CL E G H | 673 | 115150 | Cardiofaciocutaneous syndrome 1 | 115150 | CN029449 | OMIM | 1 | | 1182 | 1097 | 164757 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | BRAF CL E G H | 673 | 163950 | Noonan syndrome 1 | 163950 | C0041409 | OMIM | 1 | | 1182 | 1097 | 164757 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | BSCL2 CL E G H | 26580 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 510 | 15832 | 606158 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | BSCL2 CL E G H | 26580 | 269700 | Congenital generalized lipodystrophy type 2 | 269700 | C1720863 | OMIM | 1 | | 510 | 15832 | 606158 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | CAV1 CL E G H | 857 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 135 | 1527 | 601047 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | CAVIN1 CL E G H | 284119 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 128 | 9688 | 603198 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | COA5 CL E G H | 493753 | 616500 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 | 616500 | C4225154 | OMIM | 1 | | 41 | 33848 | 613920 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | COA6 CL E G H | 388753 | 616501 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 | 616501 | C4225304 | OMIM | 1 | | 100 | 18025 | 614772 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | COA7 CL E G H | 65260 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 58 | 25716 | 615623 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | COG7 CL E G H | 91949 | 79333 | | | | ORPHA | 1 | | 456 | 18622 | 606978 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | COQ2 CL E G H | 27235 | 607426 | Coenzyme Q10 deficiency, primary 1 | 607426 | C1843920 | OMIM | 1 | | 346 | 25223 | 609825 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | COX10 CL E G H | 1352 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 356 | 2260 | 602125 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | COX14 CL E G H | 84987 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 38 | 28216 | 614478 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | COX15 CL E G H | 1355 | 255241 | | | | ORPHA | 1 | | 357 | 2263 | 603646 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | COX20 CL E G H | 116228 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 206 | 26970 | 614698 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | COX6B1 CL E G H | 1340 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 68 | 2280 | 124089 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | COX7B CL E G H | 1349 | 2556 | | | | ORPHA | 1 | | 181 | 2291 | 300885 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | COX8A CL E G H | 1351 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 32 | 2294 | 123870 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | CRYAB CL E G H | 1410 | 608810 | Alpha-B crystallinopathy | 608810 | C1837317 | OMIM | 1 | | 273 | 2389 | 123590 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | DLD CL E G H | 1738 | 246900 | Maple syrup urine disease, type 3 | 246900 | CN043137 | OMIM | 1 | | 520 | 2898 | 238331 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | ECHS1 CL E G H | 1892 | 255241 | | | | ORPHA | 1 | | 431 | 3151 | 602292 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | ELAC2 CL E G H | 60528 | 615440 | Combined oxidative phosphorylation deficiency 17 | 615440 | C3809526 | OMIM | 1 | | 905 | 14198 | 605367 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | EMD CL E G H | 2010 | 98863 | | | | ORPHA | 1 | | 695 | 3331 | 300384 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | FAH CL E G H | 2184 | 276700 | Tyrosinemia type I | 276700 | C0268490 | OMIM | 1 | | 601 | 3579 | 613871 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | FASTKD2 CL E G H | 22868 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 401 | 29160 | 612322 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | FHL1 CL E G H | 2273 | 98863 | | | | ORPHA | 1 | | 586 | 3702 | 300163 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | FHL1 CL E G H | 2273 | 300696 | Myopathy with postural muscle atrophy, X-linked | 300696 | C2678055 | OMIM | 1 | | 586 | 3702 | 300163 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | FOS CL E G H | 2353 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 40 | 3796 | 164810 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | FOXRED1 CL E G H | 55572 | 255241 | | | | ORPHA | 1 | | 323 | 26927 | 613622 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | FTO CL E G H | 79068 | 612938 | Growth retardation, developmental delay, coarse facies, and early death | 612938 | C2752001 | OMIM | 1 | | 243 | 24678 | 610966 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | FXN CL E G H | 2395 | 229300 | Friedreich ataxia 1 | 229300 | C1856689 | OMIM | 1 | | 158 | 3951 | 606829 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | GLB1 CL E G H | 2720 | 230500 | Infantile GM1 gangliosidosis | 230500 | C0268271 | OMIM | 1 | | 937 | 4298 | 611458 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | GNPTAB CL E G H | 79158 | 252500 | I cell disease | 252500 | C2673377 | OMIM | 1 | | 1236 | 29670 | 607840 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | HADH CL E G H | 3033 | 231530 | Deficiency of 3-hydroxyacyl-CoA dehydrogenase | 231530 | C1291230 | OMIM | 1 | | 229 | 4799 | 601609 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | HADHA CL E G H | 3030 | 5 | | | | ORPHA | 1 | | 792 | 4801 | 600890 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | HCCS CL E G H | 3052 | 2556 | | | | ORPHA | 1 | | 234 | 4837 | 300056 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | HLA-B CL E G H | 3106 | 3287 | | | | ORPHA | 1 | | 29 | 4932 | 142830 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | HRAS CL E G H | 3265 | 3071 | | | | ORPHA | 1 | | 622 | 5173 | 190020 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | HRAS CL E G H | 3265 | 218040 | Costello syndrome | 218040 | C0587248 | OMIM | 1 | | 622 | 5173 | 190020 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | HSD17B10 CL E G H | 3028 | 300438 | 2-methyl-3-hydroxybutyric aciduria | 300438 | C3266731 | OMIM | 1 | | 256 | 4800 | 300256 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | IL12B CL E G H | 3593 | 3287 | | | | ORPHA | 1 | | 216 | 5970 | 161561 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | KRAS CL E G H | 3845 | 609942 | Noonan syndrome 3 | 609942 | C1860991 | OMIM | 1 | | 480 | 6407 | 190070 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | LAMP2 CL E G H | 3920 | 34587 | | | | ORPHA | 1 | | 807 | 6501 | 309060 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | LAMP2 CL E G H | 3920 | 300257 | Danon disease | 300257 | C0878677 | OMIM | 1 | | 807 | 6501 | 309060 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | LIAS CL E G H | 11019 | 614462 | Pyruvate dehydrogenase lipoic acid synthetase deficiency | 614462 | C3280887 | OMIM | 1 | | 410 | 16429 | 607031 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | LIPT1 CL E G H | 51601 | 255241 | | | | ORPHA | 1 | | 124 | 29569 | 610284 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | MAP2K1 CL E G H | 5604 | 615279 | Cardiofaciocutaneous syndrome 3 | 615279 | C3809006 | OMIM | 1 | | 493 | 6840 | 176872 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | MAP2K1 CL E G H | 5604 | 163950 | Noonan syndrome 1 | 163950 | C0041409 | OMIM | 1 | | 493 | 6840 | 176872 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | MAP2K2 CL E G H | 5605 | 638 | | | | ORPHA | 1 | | 720 | 6842 | 601263 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | MIPEP CL E G H | 4285 | 617228 | Combined oxidative phosphorylation deficiency 31 | 617228 | C4310661 | OMIM | 1 | | 264 | 7104 | 602241 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | MLX CL E G H | 6945 | 3287 | | | | ORPHA | 1 | | 31 | 11645 | 602976 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | MLYCD CL E G H | 23417 | 248360 | Deficiency of malonyl-CoA decarboxylase | 248360 | C0342793 | OMIM | 1 | | 482 | 7150 | 606761 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | MRPL3 CL E G H | 11222 | 614582 | Combined oxidative phosphorylation deficiency 9 | 614582 | C3281234 | OMIM | 1 | | 109 | 10379 | 607118 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | MRPL44 CL E G H | 65080 | 615395 | Combined oxidative phosphorylation deficiency 16 | 615395 | C3809339 | OMIM | 1 | | 152 | 16650 | 611849 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | MRPS22 CL E G H | 56945 | 611719 | Combined oxidative phosphorylation deficiency 5 | 611719 | C2673642 | OMIM | 1 | | 188 | 14508 | 605810 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | MT-TE CL E G H | 4556 | 225 | Radial ray agenesis | | | ORPHA | 1 | | | 7479 | 590025 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | MT-TK CL E G H | 4566 | 1349 | Chromosome 9, partial monosomy 9p | | C2931695 | ORPHA | 1 | | | 7489 | 590060 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | MT-TK CL E G H | 4566 | 225 | Radial ray agenesis | | | ORPHA | 1 | | | 7489 | 590060 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | MT-TL1 CL E G H | 4567 | 225 | Radial ray agenesis | | | ORPHA | 1 | | | 7490 | 590050 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | MT-TN CL E G H | 4570 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | | 7493 | 590010 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | MT-TS1 CL E G H | 4574 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | | 7497 | 590080 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | MTFMT CL E G H | 123263 | 255241 | | | | ORPHA | 1 | | 243 | 29666 | 611766 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | MTO1 CL E G H | 25821 | 614702 | Combined oxidative phosphorylation deficiency 10 | 614702 | C3553529 | OMIM | 1 | | 638 | 19261 | 614667 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | MYBPC3 CL E G H | 4607 | 115197 | Familial hypertrophic cardiomyopathy 4 | 115197 | C1861862 | OMIM | 1 | | 3317 | 7551 | 600958 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | MYH6 CL E G H | 4624 | 613251 | Familial hypertrophic cardiomyopathy 14 | 613251 | C2750467 | OMIM | 1 | | 2116 | 7576 | 160710 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | MYH7 CL E G H | 4625 | 255160 | Myopathy, myosin storage, autosomal recessive | 255160 | C1850709 | OMIM | 1 | | 4106 | 7577 | 160760 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | MYL3 CL E G H | 4634 | 608751 | Familial hypertrophic cardiomyopathy 8 | 608751 | C1837471 | OMIM | 1 | | 346 | 7584 | 160790 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NAGA CL E G H | 4668 | 79281 | | | | ORPHA | 1 | | 230 | 7631 | 104170 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFA10 CL E G H | 4705 | 255241 | | | | ORPHA | 1 | | 421 | 7684 | 603835 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFA12 CL E G H | 55967 | 255241 | | | | ORPHA | 1 | | 92 | 23987 | 614530 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFA13 CL E G H | 51079 | 255241 | | | | ORPHA | 1 | | 65 | 17194 | 609435 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFA2 CL E G H | 4695 | 255241 | | | | ORPHA | 1 | | 95 | 7685 | 602137 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFA4 CL E G H | 4697 | 255241 | | | | ORPHA | 1 | | 96 | 7687 | 603833 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFA9 CL E G H | 4704 | 255241 | | | | ORPHA | 1 | | 235 | 7693 | 603834 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFAF1 CL E G H | 51103 | 618234 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 | 618234 | | OMIM | 1 | | 154 | 18828 | 606934 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFAF2 CL E G H | 91942 | 255241 | | | | ORPHA | 1 | | 132 | 28086 | 609653 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFAF5 CL E G H | 79133 | 255241 | | | | ORPHA | 1 | | 383 | 15899 | 612360 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFAF6 CL E G H | 137682 | 255241 | | | | ORPHA | 1 | | 281 | 28625 | 612392 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFB11 CL E G H | 54539 | 2556 | | | | ORPHA | 1 | | 209 | 20372 | 300403 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFS1 CL E G H | 4719 | 255241 | | | | ORPHA | 1 | | 424 | 7707 | 157655 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFS2 CL E G H | 4720 | 255241 | | | | ORPHA | 1 | | 247 | 7708 | 602985 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFS3 CL E G H | 4722 | 255241 | | | | ORPHA | 1 | | 147 | 7710 | 603846 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFS4 CL E G H | 4724 | 255241 | | | | ORPHA | 1 | | 139 | 7711 | 602694 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFS4 CL E G H | 4724 | 252010 | Mitochondrial complex I deficiency | 252010 | C1838979 | OMIM | 1 | | 139 | 7711 | 602694 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFS7 CL E G H | 374291 | 255241 | | | | ORPHA | 1 | | 215 | 7714 | 601825 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFS8 CL E G H | 4728 | 255241 | | | | ORPHA | 1 | | 129 | 7715 | 602141 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFV1 CL E G H | 4723 | 255241 | | | | ORPHA | 1 | | 315 | 7716 | 161015 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NDUFV2 CL E G H | 4729 | 255241 | | | | ORPHA | 1 | | 229 | 7717 | 600532 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NEK8 CL E G H | 284086 | 615415 | Renal-hepatic-pancreatic dysplasia 2 | 615415 | C3809434 | OMIM | 1 | | 279 | 13387 | 609799 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NF1 CL E G H | 4763 | 638 | | | | ORPHA | 1 | | 12392 | 7765 | 613113 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | OPA1 CL E G H | 4976 | 616896 | Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) | 616896 | C4225163 | OMIM | 1 | | 1224 | 8140 | 605290 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | PDHA1 CL E G H | 5160 | 255241 | | | | ORPHA | 1 | | 679 | 8806 | 300502 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | PET100 CL E G H | 100131801 | 255241 | | | | ORPHA | 1 | | 76 | 40038 | 614770 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | PET100 CL E G H | 100131801 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 76 | 40038 | 614770 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | PPARG CL E G H | 5468 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 166 | 9236 | 601487 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | PPP1CB CL E G H | 5500 | 2701 | Noonan syndrome-like disorder with loose anagen hair | | C3501846 | ORPHA | 1 | | 215 | 9282 | 600590 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | PRKAG2 CL E G H | 51422 | 600858 | Familial hypertrophic cardiomyopathy 6 | 600858 | C1833236 | OMIM | 1 | | 1079 | 9386 | 602743 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | PTPN11 CL E G H | 5781 | 500 | | | | ORPHA | 1 | | 854 | 9644 | 176876 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | PTPN11 CL E G H | 5781 | 163950 | Noonan syndrome 1 | 163950 | C0041409 | OMIM | 1 | | 854 | 9644 | 176876 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | RAF1 CL E G H | 5894 | 500 | | | | ORPHA | 1 | | 990 | 9829 | 164760 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | RAF1 CL E G H | 5894 | 611554 | LEOPARD syndrome 2 | 611554 | C1969056 | OMIM | 1 | | 990 | 9829 | 164760 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | RIT1 CL E G H | 6016 | 615355 | Noonan syndrome 8 | 615355 | C3809233 | OMIM | 1 | | 269 | 10023 | 609591 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | SCO1 CL E G H | 6341 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 212 | 10603 | 603644 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | SCO2 CL E G H | 9997 | 604377 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency | 604377 | C1858424 | OMIM | 1 | | 701 | 10604 | 604272 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | SDHA CL E G H | 6389 | 3208 | | | | ORPHA | 1 | | 2503 | 10680 | 600857 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | SDHA CL E G H | 6389 | 255241 | | | | ORPHA | 1 | | 2503 | 10680 | 600857 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | SDHA CL E G H | 6389 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 2503 | 10680 | 600857 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | SDHAF1 CL E G H | 644096 | 3208 | | | | ORPHA | 1 | | 77 | 33867 | 612848 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | SDHAF1 CL E G H | 644096 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 77 | 33867 | 612848 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | SDHB CL E G H | 6390 | 3208 | | | | ORPHA | 1 | | 1249 | 10681 | 185470 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | SDHD CL E G H | 6392 | 3208 | | | | ORPHA | 1 | | 686 | 10683 | 602690 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | SDHD CL E G H | 6392 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 686 | 10683 | 602690 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | SHOC2 CL E G H | 8036 | 2701 | Noonan syndrome-like disorder with loose anagen hair | | C3501846 | ORPHA | 1 | | 452 | 15454 | 602775 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | SHOC2 CL E G H | 8036 | 607721 | Noonan syndrome-like disorder with loose anagen hair 1 | 607721 | C1843181 | OMIM | 1 | | 452 | 15454 | 602775 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | SLC19A3 CL E G H | 80704 | 255241 | | | | ORPHA | 1 | | 563 | 16266 | 606152 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | SLC22A5 CL E G H | 6584 | 212140 | Renal carnitine transport defect | 212140 | C0342788 | OMIM | 1 | | 1027 | 10969 | 603377 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | SLC25A3 CL E G H | 5250 | 91130 | | | | ORPHA | 1 | | 176 | 10989 | 600370 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | SLC25A3 CL E G H | 5250 | 610773 | Mitochondrial phosphate carrier deficiency | 610773 | C1835845 | OMIM | 1 | | 176 | 10989 | 600370 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | SLC25A4 CL E G H | 291 | 1369 | | | | ORPHA | 1 | | 333 | 10990 | 103220 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | SLC25A4 CL E G H | 291 | 615418 | Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive | 615418 | C3809443 | OMIM | 1 | | 333 | 10990 | 103220 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | SOS1 CL E G H | 6654 | 610733 | Noonan syndrome 4 | 610733 | C1853120 | OMIM | 1 | | 1503 | 11187 | 182530 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | SURF1 CL E G H | 6834 | 255241 | | | | ORPHA | 1 | | 532 | 11474 | 185620 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | TACO1 CL E G H | 51204 | 255241 | | | | ORPHA | 1 | | 117 | 24316 | 612958 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | TACO1 CL E G H | 51204 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 117 | 24316 | 612958 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | TAPT1 CL E G H | 202018 | 616897 | Osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type | 616897 | C4225162 | OMIM | 1 | | 284 | 26887 | 612758 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | TAZ CL E G H | 6901 | 302060 | 3-Methylglutaconic aciduria type 2 | 302060 | C0574083 | OMIM | 1 | | | 11577 | 300394 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | TMEM126B CL E G H | 55863 | 618250 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29 | 618250 | | OMIM | 1 | | 116 | 30883 | 615533 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | TMEM70 CL E G H | 54968 | 1194 | | | | ORPHA | 1 | | 325 | 26050 | 612418 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | TMEM70 CL E G H | 54968 | 614052 | Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 | 614052 | C3279699 | OMIM | 1 | | 325 | 26050 | 612418 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | TNNC1 CL E G H | 7134 | 613243 | Familial hypertrophic cardiomyopathy 13 | 613243 | C2750472 | OMIM | 1 | | 300 | 11943 | 191040 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | TNNT2 CL E G H | 7139 | 115195 | Familial hypertrophic cardiomyopathy 2 | 115195 | C1861864 | OMIM | 1 | | 817 | 11949 | 191045 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | TPM1 CL E G H | 7168 | 115196 | Familial hypertrophic cardiomyopathy 3 | 115196 | C1861863 | OMIM | 1 | | 767 | 12010 | 191010 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | TTN CL E G H | 7273 | 613765 | Familial hypertrophic cardiomyopathy 9 | 613765 | C1861065 | OMIM | 1 | | 27503 | 12403 | 188840 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | VCL CL E G H | 7414 | 613255 | Familial hypertrophic cardiomyopathy 15 | 613255 | C2750459 | OMIM | 1 | | 1175 | 12665 | 193065 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | VPS33A CL E G H | 65082 | 617303 | Mucopolysaccharidosis-plus syndrome | 617303 | C4310627 | OMIM | 1 | | 274 | 18179 | 610034 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | AARS2 CL E G H | 57505 | 614096 | Combined oxidative phosphorylation deficiency 8 | 614096 | C3279793 | OMIM | 1 | | 543 | 21022 | 612035 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | AARS2 CL E G H | 57505 | 614096 | Combined oxidative phosphorylation deficiency 8 | 614096 | C3279793 | OMIM | 1 | | 543 | 21022 | 612035 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | AARS2 CL E G H | 57505 | 614096 | Combined oxidative phosphorylation deficiency 8 | 614096 | C3279793 | OMIM | 1 | | 543 | 21022 | 612035 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | ACAD9 CL E G H | 28976 | 99901 | | | | ORPHA | 1 | | 771 | 21497 | 611103 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | ACAD9 CL E G H | 28976 | 99901 | | | | ORPHA | 1 | | 771 | 21497 | 611103 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | ACAD9 CL E G H | 28976 | 99901 | | | | ORPHA | 1 | | 771 | 21497 | 611103 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | ACAD9 CL E G H | 28976 | 611126 | Acyl-CoA dehydrogenase family, member 9, deficiency of | 611126 | C1970173 | OMIM | 1 | | 771 | 21497 | 611103 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | ACAD9 CL E G H | 28976 | 611126 | Acyl-CoA dehydrogenase family, member 9, deficiency of | 611126 | C1970173 | OMIM | 1 | | 771 | 21497 | 611103 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | ACAD9 CL E G H | 28976 | 611126 | Acyl-CoA dehydrogenase family, member 9, deficiency of | 611126 | C1970173 | OMIM | 1 | | 771 | 21497 | 611103 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | ACADL CL E G H | 33 | 99900 | | | | ORPHA | 1 | | 62 | 88 | 609576 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | ACADL CL E G H | 33 | 99900 | | | | ORPHA | 1 | | 62 | 88 | 609576 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | ACADL CL E G H | 33 | 99900 | | | | ORPHA | 1 | | 62 | 88 | 609576 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | ACADVL CL E G H | 37 | 201475 | Very long chain acyl-CoA dehydrogenase deficiency | 201475 | C3887523 | OMIM | 1 | | 1594 | 92 | 609575 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | ACADVL CL E G H | 37 | 201475 | Very long chain acyl-CoA dehydrogenase deficiency | 201475 | C3887523 | OMIM | 1 | | 1594 | 92 | 609575 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | ACADVL CL E G H | 37 | 201475 | Very long chain acyl-CoA dehydrogenase deficiency | 201475 | C3887523 | OMIM | 1 | | 1594 | 92 | 609575 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | ACTC1 CL E G H | 70 | 612098 | Familial hypertrophic cardiomyopathy 11 | 612098 | C2677506 | OMIM | 1 | | 672 | 143 | 102540 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | ACTC1 CL E G H | 70 | 612098 | Familial hypertrophic cardiomyopathy 11 | 612098 | C2677506 | OMIM | 1 | | 672 | 143 | 102540 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | ACTC1 CL E G H | 70 | 612098 | Familial hypertrophic cardiomyopathy 11 | 612098 | C2677506 | OMIM | 1 | | 672 | 143 | 102540 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | AGK CL E G H | 55750 | 1369 | | | | ORPHA | 1 | | 347 | 21869 | 610345 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | AGK CL E G H | 55750 | 1369 | | | | ORPHA | 1 | | 347 | 21869 | 610345 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | AGK CL E G H | 55750 | 1369 | | | | ORPHA | 1 | | 347 | 21869 | 610345 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | AGK CL E G H | 55750 | 212350 | Cataract and cardiomyopathy | 212350 | C1859317 | OMIM | 1 | | 347 | 21869 | 610345 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | AGK CL E G H | 55750 | 212350 | Cataract and cardiomyopathy | 212350 | C1859317 | OMIM | 1 | | 347 | 21869 | 610345 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | AGK CL E G H | 55750 | 212350 | Cataract and cardiomyopathy | 212350 | C1859317 | OMIM | 1 | | 347 | 21869 | 610345 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | AGPAT2 CL E G H | 10555 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 242 | 325 | 603100 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | AGPAT2 CL E G H | 10555 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 242 | 325 | 603100 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | AGPAT2 CL E G H | 10555 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 242 | 325 | 603100 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | ALG1 CL E G H | 56052 | 79327 | | | | ORPHA | 1 | | 648 | 18294 | 605907 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | ALG1 CL E G H | 56052 | 79327 | | | | ORPHA | 1 | | 648 | 18294 | 605907 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | ALG1 CL E G H | 56052 | 79327 | | | | ORPHA | 1 | | 648 | 18294 | 605907 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | APOPT1 CL E G H | 84334 | 436271 | | | | ORPHA | 1 | | 197 | 20492 | 616003 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | APOPT1 CL E G H | 84334 | 436271 | | | | ORPHA | 1 | | 197 | 20492 | 616003 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | APOPT1 CL E G H | 84334 | 436271 | | | | ORPHA | 1 | | 197 | 20492 | 616003 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | APOPT1 CL E G H | 84334 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 197 | 20492 | 616003 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | APOPT1 CL E G H | 84334 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 197 | 20492 | 616003 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | APOPT1 CL E G H | 84334 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 197 | 20492 | 616003 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | ATP5F1E CL E G H | 514 | 614053 | Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3 | 614053 | C3279708 | OMIM | 1 | | 44 | 838 | 606153 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | ATP5F1E CL E G H | 514 | 614053 | Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3 | 614053 | C3279708 | OMIM | 1 | | 44 | 838 | 606153 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | ATP5F1E CL E G H | 514 | 614053 | Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3 | 614053 | C3279708 | OMIM | 1 | | 44 | 838 | 606153 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | ATP6V1A CL E G H | 523 | 617403 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID | 617403 | C4479409 | OMIM | 1 | | 229 | 851 | 607027 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | ATP6V1A CL E G H | 523 | 617403 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID | 617403 | C4479409 | OMIM | 1 | | 229 | 851 | 607027 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | ATP6V1A CL E G H | 523 | 617403 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID | 617403 | C4479409 | OMIM | 1 | | 229 | 851 | 607027 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | ATPAF2 CL E G H | 91647 | 604273 | Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1 | 604273 | C2700431 | OMIM | 1 | | 281 | 18802 | 608918 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | ATPAF2 CL E G H | 91647 | 604273 | Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1 | 604273 | C2700431 | OMIM | 1 | | 281 | 18802 | 608918 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | ATPAF2 CL E G H | 91647 | 604273 | Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1 | 604273 | C2700431 | OMIM | 1 | | 281 | 18802 | 608918 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | BAG3 CL E G H | 9531 | 612954 | Myofibrillar myopathy, BAG3-related | 612954 | C2751831 | OMIM | 1 | | 986 | 939 | 603883 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | BAG3 CL E G H | 9531 | 612954 | Myofibrillar myopathy, BAG3-related | 612954 | C2751831 | OMIM | 1 | | 986 | 939 | 603883 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | BAG3 CL E G H | 9531 | 612954 | Myofibrillar myopathy, BAG3-related | 612954 | C2751831 | OMIM | 1 | | 986 | 939 | 603883 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | BCS1L CL E G H | 617 | 124000 | Mitochondrial complex III deficiency | 124000 | C1852372 | OMIM | 1 | | 413 | 1020 | 603647 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | BCS1L CL E G H | 617 | 124000 | Mitochondrial complex III deficiency | 124000 | C1852372 | OMIM | 1 | | 413 | 1020 | 603647 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | BCS1L CL E G H | 617 | 124000 | Mitochondrial complex III deficiency | 124000 | C1852372 | OMIM | 1 | | 413 | 1020 | 603647 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | BOLA3 CL E G H | 388962 | 614299 | Multiple mitochondrial dysfunctions syndrome 2 | 614299 | C3280378 | OMIM | 1 | | 102 | 24415 | 613183 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | BOLA3 CL E G H | 388962 | 614299 | Multiple mitochondrial dysfunctions syndrome 2 | 614299 | C3280378 | OMIM | 1 | | 102 | 24415 | 613183 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | BOLA3 CL E G H | 388962 | 614299 | Multiple mitochondrial dysfunctions syndrome 2 | 614299 | C3280378 | OMIM | 1 | | 102 | 24415 | 613183 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | BRAF CL E G H | 673 | 500 | | | | ORPHA | 1 | | 1182 | 1097 | 164757 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | BRAF CL E G H | 673 | 500 | | | | ORPHA | 1 | | 1182 | 1097 | 164757 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | BRAF CL E G H | 673 | 500 | | | | ORPHA | 1 | | 1182 | 1097 | 164757 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | BRAF CL E G H | 673 | 115150 | Cardiofaciocutaneous syndrome 1 | 115150 | CN029449 | OMIM | 1 | | 1182 | 1097 | 164757 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | BRAF CL E G H | 673 | 115150 | Cardiofaciocutaneous syndrome 1 | 115150 | CN029449 | OMIM | 1 | | 1182 | 1097 | 164757 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | BRAF CL E G H | 673 | 115150 | Cardiofaciocutaneous syndrome 1 | 115150 | CN029449 | OMIM | 1 | | 1182 | 1097 | 164757 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | BRAF CL E G H | 673 | 163950 | Noonan syndrome 1 | 163950 | C0041409 | OMIM | 1 | | 1182 | 1097 | 164757 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | BRAF CL E G H | 673 | 163950 | Noonan syndrome 1 | 163950 | C0041409 | OMIM | 1 | | 1182 | 1097 | 164757 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | BRAF CL E G H | 673 | 163950 | Noonan syndrome 1 | 163950 | C0041409 | OMIM | 1 | | 1182 | 1097 | 164757 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | BSCL2 CL E G H | 26580 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 510 | 15832 | 606158 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | BSCL2 CL E G H | 26580 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 510 | 15832 | 606158 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | BSCL2 CL E G H | 26580 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 510 | 15832 | 606158 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | BSCL2 CL E G H | 26580 | 269700 | Congenital generalized lipodystrophy type 2 | 269700 | C1720863 | OMIM | 1 | | 510 | 15832 | 606158 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | BSCL2 CL E G H | 26580 | 269700 | Congenital generalized lipodystrophy type 2 | 269700 | C1720863 | OMIM | 1 | | 510 | 15832 | 606158 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | BSCL2 CL E G H | 26580 | 269700 | Congenital generalized lipodystrophy type 2 | 269700 | C1720863 | OMIM | 1 | | 510 | 15832 | 606158 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | CAV1 CL E G H | 857 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 135 | 1527 | 601047 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | CAV1 CL E G H | 857 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 135 | 1527 | 601047 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | CAV1 CL E G H | 857 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 135 | 1527 | 601047 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | CAVIN1 CL E G H | 284119 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 128 | 9688 | 603198 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | CAVIN1 CL E G H | 284119 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 128 | 9688 | 603198 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | CAVIN1 CL E G H | 284119 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 128 | 9688 | 603198 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | COA5 CL E G H | 493753 | 616500 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 | 616500 | C4225154 | OMIM | 1 | | 41 | 33848 | 613920 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | COA5 CL E G H | 493753 | 616500 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 | 616500 | C4225154 | OMIM | 1 | | 41 | 33848 | 613920 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | COA5 CL E G H | 493753 | 616500 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 | 616500 | C4225154 | OMIM | 1 | | 41 | 33848 | 613920 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | COA6 CL E G H | 388753 | 616501 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 | 616501 | C4225304 | OMIM | 1 | | 100 | 18025 | 614772 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | COA6 CL E G H | 388753 | 616501 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 | 616501 | C4225304 | OMIM | 1 | | 100 | 18025 | 614772 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | COA6 CL E G H | 388753 | 616501 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 | 616501 | C4225304 | OMIM | 1 | | 100 | 18025 | 614772 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | COA7 CL E G H | 65260 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 58 | 25716 | 615623 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | COA7 CL E G H | 65260 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 58 | 25716 | 615623 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | COA7 CL E G H | 65260 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 58 | 25716 | 615623 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | COG7 CL E G H | 91949 | 79333 | | | | ORPHA | 1 | | 456 | 18622 | 606978 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | COG7 CL E G H | 91949 | 79333 | | | | ORPHA | 1 | | 456 | 18622 | 606978 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | COG7 CL E G H | 91949 | 79333 | | | | ORPHA | 1 | | 456 | 18622 | 606978 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | COQ2 CL E G H | 27235 | 607426 | Coenzyme Q10 deficiency, primary 1 | 607426 | C1843920 | OMIM | 1 | | 346 | 25223 | 609825 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | COQ2 CL E G H | 27235 | 607426 | Coenzyme Q10 deficiency, primary 1 | 607426 | C1843920 | OMIM | 1 | | 346 | 25223 | 609825 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | COQ2 CL E G H | 27235 | 607426 | Coenzyme Q10 deficiency, primary 1 | 607426 | C1843920 | OMIM | 1 | | 346 | 25223 | 609825 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | COX10 CL E G H | 1352 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 356 | 2260 | 602125 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | COX10 CL E G H | 1352 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 356 | 2260 | 602125 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | COX10 CL E G H | 1352 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 356 | 2260 | 602125 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | COX14 CL E G H | 84987 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 38 | 28216 | 614478 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | COX14 CL E G H | 84987 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 38 | 28216 | 614478 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | COX14 CL E G H | 84987 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 38 | 28216 | 614478 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | COX15 CL E G H | 1355 | 255241 | | | | ORPHA | 1 | | 357 | 2263 | 603646 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | COX15 CL E G H | 1355 | 255241 | | | | ORPHA | 1 | | 357 | 2263 | 603646 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | COX15 CL E G H | 1355 | 255241 | | | | ORPHA | 1 | | 357 | 2263 | 603646 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | COX20 CL E G H | 116228 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 206 | 26970 | 614698 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | COX20 CL E G H | 116228 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 206 | 26970 | 614698 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | COX20 CL E G H | 116228 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 206 | 26970 | 614698 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | COX6B1 CL E G H | 1340 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 68 | 2280 | 124089 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | COX6B1 CL E G H | 1340 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 68 | 2280 | 124089 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | COX6B1 CL E G H | 1340 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 68 | 2280 | 124089 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | COX7B CL E G H | 1349 | 2556 | | | | ORPHA | 1 | | 181 | 2291 | 300885 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | COX7B CL E G H | 1349 | 2556 | | | | ORPHA | 1 | | 181 | 2291 | 300885 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | COX7B CL E G H | 1349 | 2556 | | | | ORPHA | 1 | | 181 | 2291 | 300885 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | COX8A CL E G H | 1351 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 32 | 2294 | 123870 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | COX8A CL E G H | 1351 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 32 | 2294 | 123870 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | COX8A CL E G H | 1351 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 32 | 2294 | 123870 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | CRYAB CL E G H | 1410 | 608810 | Alpha-B crystallinopathy | 608810 | C1837317 | OMIM | 1 | | 273 | 2389 | 123590 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | CRYAB CL E G H | 1410 | 608810 | Alpha-B crystallinopathy | 608810 | C1837317 | OMIM | 1 | | 273 | 2389 | 123590 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | CRYAB CL E G H | 1410 | 608810 | Alpha-B crystallinopathy | 608810 | C1837317 | OMIM | 1 | | 273 | 2389 | 123590 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | DLD CL E G H | 1738 | 246900 | Maple syrup urine disease, type 3 | 246900 | CN043137 | OMIM | 1 | | 520 | 2898 | 238331 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | DLD CL E G H | 1738 | 246900 | Maple syrup urine disease, type 3 | 246900 | CN043137 | OMIM | 1 | | 520 | 2898 | 238331 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | DLD CL E G H | 1738 | 246900 | Maple syrup urine disease, type 3 | 246900 | CN043137 | OMIM | 1 | | 520 | 2898 | 238331 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | ECHS1 CL E G H | 1892 | 255241 | | | | ORPHA | 1 | | 431 | 3151 | 602292 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | ECHS1 CL E G H | 1892 | 255241 | | | | ORPHA | 1 | | 431 | 3151 | 602292 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | ECHS1 CL E G H | 1892 | 255241 | | | | ORPHA | 1 | | 431 | 3151 | 602292 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | ELAC2 CL E G H | 60528 | 615440 | Combined oxidative phosphorylation deficiency 17 | 615440 | C3809526 | OMIM | 1 | | 905 | 14198 | 605367 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | ELAC2 CL E G H | 60528 | 615440 | Combined oxidative phosphorylation deficiency 17 | 615440 | C3809526 | OMIM | 1 | | 905 | 14198 | 605367 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | ELAC2 CL E G H | 60528 | 615440 | Combined oxidative phosphorylation deficiency 17 | 615440 | C3809526 | OMIM | 1 | | 905 | 14198 | 605367 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | EMD CL E G H | 2010 | 98863 | | | | ORPHA | 1 | | 695 | 3331 | 300384 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | EMD CL E G H | 2010 | 98863 | | | | ORPHA | 1 | | 695 | 3331 | 300384 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | EMD CL E G H | 2010 | 98863 | | | | ORPHA | 1 | | 695 | 3331 | 300384 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | FAH CL E G H | 2184 | 276700 | Tyrosinemia type I | 276700 | C0268490 | OMIM | 1 | | 601 | 3579 | 613871 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | FAH CL E G H | 2184 | 276700 | Tyrosinemia type I | 276700 | C0268490 | OMIM | 1 | | 601 | 3579 | 613871 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | FAH CL E G H | 2184 | 276700 | Tyrosinemia type I | 276700 | C0268490 | OMIM | 1 | | 601 | 3579 | 613871 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | FASTKD2 CL E G H | 22868 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 401 | 29160 | 612322 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | FASTKD2 CL E G H | 22868 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 401 | 29160 | 612322 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | FASTKD2 CL E G H | 22868 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 401 | 29160 | 612322 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | FHL1 CL E G H | 2273 | 98863 | | | | ORPHA | 1 | | 586 | 3702 | 300163 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | FHL1 CL E G H | 2273 | 98863 | | | | ORPHA | 1 | | 586 | 3702 | 300163 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | FHL1 CL E G H | 2273 | 98863 | | | | ORPHA | 1 | | 586 | 3702 | 300163 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | FHL1 CL E G H | 2273 | 300696 | Myopathy with postural muscle atrophy, X-linked | 300696 | C2678055 | OMIM | 1 | | 586 | 3702 | 300163 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | FHL1 CL E G H | 2273 | 300696 | Myopathy with postural muscle atrophy, X-linked | 300696 | C2678055 | OMIM | 1 | | 586 | 3702 | 300163 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | FHL1 CL E G H | 2273 | 300696 | Myopathy with postural muscle atrophy, X-linked | 300696 | C2678055 | OMIM | 1 | | 586 | 3702 | 300163 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | FOS CL E G H | 2353 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 40 | 3796 | 164810 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | FOS CL E G H | 2353 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 40 | 3796 | 164810 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | FOS CL E G H | 2353 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 40 | 3796 | 164810 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | FOXRED1 CL E G H | 55572 | 255241 | | | | ORPHA | 1 | | 323 | 26927 | 613622 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | FOXRED1 CL E G H | 55572 | 255241 | | | | ORPHA | 1 | | 323 | 26927 | 613622 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | FOXRED1 CL E G H | 55572 | 255241 | | | | ORPHA | 1 | | 323 | 26927 | 613622 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | FTO CL E G H | 79068 | 612938 | Growth retardation, developmental delay, coarse facies, and early death | 612938 | C2752001 | OMIM | 1 | | 243 | 24678 | 610966 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | FTO CL E G H | 79068 | 612938 | Growth retardation, developmental delay, coarse facies, and early death | 612938 | C2752001 | OMIM | 1 | | 243 | 24678 | 610966 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | FTO CL E G H | 79068 | 612938 | Growth retardation, developmental delay, coarse facies, and early death | 612938 | C2752001 | OMIM | 1 | | 243 | 24678 | 610966 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | FXN CL E G H | 2395 | 229300 | Friedreich ataxia 1 | 229300 | C1856689 | OMIM | 1 | | 158 | 3951 | 606829 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | FXN CL E G H | 2395 | 229300 | Friedreich ataxia 1 | 229300 | C1856689 | OMIM | 1 | | 158 | 3951 | 606829 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | FXN CL E G H | 2395 | 229300 | Friedreich ataxia 1 | 229300 | C1856689 | OMIM | 1 | | 158 | 3951 | 606829 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | GLB1 CL E G H | 2720 | 230500 | Infantile GM1 gangliosidosis | 230500 | C0268271 | OMIM | 1 | | 937 | 4298 | 611458 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | GLB1 CL E G H | 2720 | 230500 | Infantile GM1 gangliosidosis | 230500 | C0268271 | OMIM | 1 | | 937 | 4298 | 611458 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | GLB1 CL E G H | 2720 | 230500 | Infantile GM1 gangliosidosis | 230500 | C0268271 | OMIM | 1 | | 937 | 4298 | 611458 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | GNPTAB CL E G H | 79158 | 252500 | I cell disease | 252500 | C2673377 | OMIM | 1 | | 1236 | 29670 | 607840 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | GNPTAB CL E G H | 79158 | 252500 | I cell disease | 252500 | C2673377 | OMIM | 1 | | 1236 | 29670 | 607840 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | GNPTAB CL E G H | 79158 | 252500 | I cell disease | 252500 | C2673377 | OMIM | 1 | | 1236 | 29670 | 607840 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | HADH CL E G H | 3033 | 231530 | Deficiency of 3-hydroxyacyl-CoA dehydrogenase | 231530 | C1291230 | OMIM | 1 | | 229 | 4799 | 601609 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | HADH CL E G H | 3033 | 231530 | Deficiency of 3-hydroxyacyl-CoA dehydrogenase | 231530 | C1291230 | OMIM | 1 | | 229 | 4799 | 601609 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | HADH CL E G H | 3033 | 231530 | Deficiency of 3-hydroxyacyl-CoA dehydrogenase | 231530 | C1291230 | OMIM | 1 | | 229 | 4799 | 601609 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | HADHA CL E G H | 3030 | 5 | | | | ORPHA | 1 | | 792 | 4801 | 600890 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | HADHA CL E G H | 3030 | 5 | | | | ORPHA | 1 | | 792 | 4801 | 600890 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | HADHA CL E G H | 3030 | 5 | | | | ORPHA | 1 | | 792 | 4801 | 600890 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | HCCS CL E G H | 3052 | 2556 | | | | ORPHA | 1 | | 234 | 4837 | 300056 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | HCCS CL E G H | 3052 | 2556 | | | | ORPHA | 1 | | 234 | 4837 | 300056 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | HCCS CL E G H | 3052 | 2556 | | | | ORPHA | 1 | | 234 | 4837 | 300056 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | HLA-B CL E G H | 3106 | 3287 | | | | ORPHA | 1 | | 29 | 4932 | 142830 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | HLA-B CL E G H | 3106 | 3287 | | | | ORPHA | 1 | | 29 | 4932 | 142830 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | HLA-B CL E G H | 3106 | 3287 | | | | ORPHA | 1 | | 29 | 4932 | 142830 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | HRAS CL E G H | 3265 | 3071 | | | | ORPHA | 1 | | 622 | 5173 | 190020 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | HRAS CL E G H | 3265 | 3071 | | | | ORPHA | 1 | | 622 | 5173 | 190020 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | HRAS CL E G H | 3265 | 3071 | | | | ORPHA | 1 | | 622 | 5173 | 190020 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | HRAS CL E G H | 3265 | 218040 | Costello syndrome | 218040 | C0587248 | OMIM | 1 | | 622 | 5173 | 190020 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | HRAS CL E G H | 3265 | 218040 | Costello syndrome | 218040 | C0587248 | OMIM | 1 | | 622 | 5173 | 190020 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | HRAS CL E G H | 3265 | 218040 | Costello syndrome | 218040 | C0587248 | OMIM | 1 | | 622 | 5173 | 190020 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | HSD17B10 CL E G H | 3028 | 300438 | 2-methyl-3-hydroxybutyric aciduria | 300438 | C3266731 | OMIM | 1 | | 256 | 4800 | 300256 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | HSD17B10 CL E G H | 3028 | 300438 | 2-methyl-3-hydroxybutyric aciduria | 300438 | C3266731 | OMIM | 1 | | 256 | 4800 | 300256 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | HSD17B10 CL E G H | 3028 | 300438 | 2-methyl-3-hydroxybutyric aciduria | 300438 | C3266731 | OMIM | 1 | | 256 | 4800 | 300256 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | IL12B CL E G H | 3593 | 3287 | | | | ORPHA | 1 | | 216 | 5970 | 161561 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | IL12B CL E G H | 3593 | 3287 | | | | ORPHA | 1 | | 216 | 5970 | 161561 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | IL12B CL E G H | 3593 | 3287 | | | | ORPHA | 1 | | 216 | 5970 | 161561 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | KRAS CL E G H | 3845 | 609942 | Noonan syndrome 3 | 609942 | C1860991 | OMIM | 1 | | 480 | 6407 | 190070 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | KRAS CL E G H | 3845 | 609942 | Noonan syndrome 3 | 609942 | C1860991 | OMIM | 1 | | 480 | 6407 | 190070 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | KRAS CL E G H | 3845 | 609942 | Noonan syndrome 3 | 609942 | C1860991 | OMIM | 1 | | 480 | 6407 | 190070 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | LAMP2 CL E G H | 3920 | 34587 | | | | ORPHA | 1 | | 807 | 6501 | 309060 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | LAMP2 CL E G H | 3920 | 34587 | | | | ORPHA | 1 | | 807 | 6501 | 309060 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | LAMP2 CL E G H | 3920 | 34587 | | | | ORPHA | 1 | | 807 | 6501 | 309060 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | LAMP2 CL E G H | 3920 | 300257 | Danon disease | 300257 | C0878677 | OMIM | 1 | | 807 | 6501 | 309060 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | LAMP2 CL E G H | 3920 | 300257 | Danon disease | 300257 | C0878677 | OMIM | 1 | | 807 | 6501 | 309060 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | LAMP2 CL E G H | 3920 | 300257 | Danon disease | 300257 | C0878677 | OMIM | 1 | | 807 | 6501 | 309060 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | LIAS CL E G H | 11019 | 614462 | Pyruvate dehydrogenase lipoic acid synthetase deficiency | 614462 | C3280887 | OMIM | 1 | | 410 | 16429 | 607031 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | LIAS CL E G H | 11019 | 614462 | Pyruvate dehydrogenase lipoic acid synthetase deficiency | 614462 | C3280887 | OMIM | 1 | | 410 | 16429 | 607031 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | LIAS CL E G H | 11019 | 614462 | Pyruvate dehydrogenase lipoic acid synthetase deficiency | 614462 | C3280887 | OMIM | 1 | | 410 | 16429 | 607031 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | LIPT1 CL E G H | 51601 | 255241 | | | | ORPHA | 1 | | 124 | 29569 | 610284 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | LIPT1 CL E G H | 51601 | 255241 | | | | ORPHA | 1 | | 124 | 29569 | 610284 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | LIPT1 CL E G H | 51601 | 255241 | | | | ORPHA | 1 | | 124 | 29569 | 610284 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | MAP2K1 CL E G H | 5604 | 615279 | Cardiofaciocutaneous syndrome 3 | 615279 | C3809006 | OMIM | 1 | | 493 | 6840 | 176872 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | MAP2K1 CL E G H | 5604 | 615279 | Cardiofaciocutaneous syndrome 3 | 615279 | C3809006 | OMIM | 1 | | 493 | 6840 | 176872 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | MAP2K1 CL E G H | 5604 | 615279 | Cardiofaciocutaneous syndrome 3 | 615279 | C3809006 | OMIM | 1 | | 493 | 6840 | 176872 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | MAP2K1 CL E G H | 5604 | 163950 | Noonan syndrome 1 | 163950 | C0041409 | OMIM | 1 | | 493 | 6840 | 176872 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | MAP2K1 CL E G H | 5604 | 163950 | Noonan syndrome 1 | 163950 | C0041409 | OMIM | 1 | | 493 | 6840 | 176872 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | MAP2K1 CL E G H | 5604 | 163950 | Noonan syndrome 1 | 163950 | C0041409 | OMIM | 1 | | 493 | 6840 | 176872 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | MAP2K2 CL E G H | 5605 | 638 | | | | ORPHA | 1 | | 720 | 6842 | 601263 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | MAP2K2 CL E G H | 5605 | 638 | | | | ORPHA | 1 | | 720 | 6842 | 601263 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | MAP2K2 CL E G H | 5605 | 638 | | | | ORPHA | 1 | | 720 | 6842 | 601263 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | MIPEP CL E G H | 4285 | 617228 | Combined oxidative phosphorylation deficiency 31 | 617228 | C4310661 | OMIM | 1 | | 264 | 7104 | 602241 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | MIPEP CL E G H | 4285 | 617228 | Combined oxidative phosphorylation deficiency 31 | 617228 | C4310661 | OMIM | 1 | | 264 | 7104 | 602241 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | MIPEP CL E G H | 4285 | 617228 | Combined oxidative phosphorylation deficiency 31 | 617228 | C4310661 | OMIM | 1 | | 264 | 7104 | 602241 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | MLX CL E G H | 6945 | 3287 | | | | ORPHA | 1 | | 31 | 11645 | 602976 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | MLX CL E G H | 6945 | 3287 | | | | ORPHA | 1 | | 31 | 11645 | 602976 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | MLX CL E G H | 6945 | 3287 | | | | ORPHA | 1 | | 31 | 11645 | 602976 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | MLYCD CL E G H | 23417 | 248360 | Deficiency of malonyl-CoA decarboxylase | 248360 | C0342793 | OMIM | 1 | | 482 | 7150 | 606761 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | MLYCD CL E G H | 23417 | 248360 | Deficiency of malonyl-CoA decarboxylase | 248360 | C0342793 | OMIM | 1 | | 482 | 7150 | 606761 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | MLYCD CL E G H | 23417 | 248360 | Deficiency of malonyl-CoA decarboxylase | 248360 | C0342793 | OMIM | 1 | | 482 | 7150 | 606761 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | MRPL3 CL E G H | 11222 | 614582 | Combined oxidative phosphorylation deficiency 9 | 614582 | C3281234 | OMIM | 1 | | 109 | 10379 | 607118 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | MRPL3 CL E G H | 11222 | 614582 | Combined oxidative phosphorylation deficiency 9 | 614582 | C3281234 | OMIM | 1 | | 109 | 10379 | 607118 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | MRPL3 CL E G H | 11222 | 614582 | Combined oxidative phosphorylation deficiency 9 | 614582 | C3281234 | OMIM | 1 | | 109 | 10379 | 607118 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | MRPL44 CL E G H | 65080 | 615395 | Combined oxidative phosphorylation deficiency 16 | 615395 | C3809339 | OMIM | 1 | | 152 | 16650 | 611849 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | MRPL44 CL E G H | 65080 | 615395 | Combined oxidative phosphorylation deficiency 16 | 615395 | C3809339 | OMIM | 1 | | 152 | 16650 | 611849 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | MRPL44 CL E G H | 65080 | 615395 | Combined oxidative phosphorylation deficiency 16 | 615395 | C3809339 | OMIM | 1 | | 152 | 16650 | 611849 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | MRPS22 CL E G H | 56945 | 611719 | Combined oxidative phosphorylation deficiency 5 | 611719 | C2673642 | OMIM | 1 | | 188 | 14508 | 605810 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | MRPS22 CL E G H | 56945 | 611719 | Combined oxidative phosphorylation deficiency 5 | 611719 | C2673642 | OMIM | 1 | | 188 | 14508 | 605810 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | MRPS22 CL E G H | 56945 | 611719 | Combined oxidative phosphorylation deficiency 5 | 611719 | C2673642 | OMIM | 1 | | 188 | 14508 | 605810 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | MT-TE CL E G H | 4556 | 225 | Radial ray agenesis | | | ORPHA | 1 | | | 7479 | 590025 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | MT-TE CL E G H | 4556 | 225 | Radial ray agenesis | | | ORPHA | 1 | | | 7479 | 590025 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | MT-TE CL E G H | 4556 | 225 | Radial ray agenesis | | | ORPHA | 1 | | | 7479 | 590025 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | MT-TK CL E G H | 4566 | 1349 | Chromosome 9, partial monosomy 9p | | C2931695 | ORPHA | 1 | | | 7489 | 590060 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | MT-TK CL E G H | 4566 | 1349 | Chromosome 9, partial monosomy 9p | | C2931695 | ORPHA | 1 | | | 7489 | 590060 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | MT-TK CL E G H | 4566 | 1349 | Chromosome 9, partial monosomy 9p | | C2931695 | ORPHA | 1 | | | 7489 | 590060 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | MT-TK CL E G H | 4566 | 225 | Radial ray agenesis | | | ORPHA | 1 | | | 7489 | 590060 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | MT-TK CL E G H | 4566 | 225 | Radial ray agenesis | | | ORPHA | 1 | | | 7489 | 590060 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | MT-TK CL E G H | 4566 | 225 | Radial ray agenesis | | | ORPHA | 1 | | | 7489 | 590060 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | MT-TL1 CL E G H | 4567 | 225 | Radial ray agenesis | | | ORPHA | 1 | | | 7490 | 590050 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | MT-TL1 CL E G H | 4567 | 225 | Radial ray agenesis | | | ORPHA | 1 | | | 7490 | 590050 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | MT-TL1 CL E G H | 4567 | 225 | Radial ray agenesis | | | ORPHA | 1 | | | 7490 | 590050 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | MT-TN CL E G H | 4570 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | | 7493 | 590010 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | MT-TN CL E G H | 4570 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | | 7493 | 590010 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | MT-TN CL E G H | 4570 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | | 7493 | 590010 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | MT-TS1 CL E G H | 4574 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | | 7497 | 590080 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | MT-TS1 CL E G H | 4574 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | | 7497 | 590080 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | MT-TS1 CL E G H | 4574 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | | 7497 | 590080 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | MTFMT CL E G H | 123263 | 255241 | | | | ORPHA | 1 | | 243 | 29666 | 611766 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | MTFMT CL E G H | 123263 | 255241 | | | | ORPHA | 1 | | 243 | 29666 | 611766 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | MTFMT CL E G H | 123263 | 255241 | | | | ORPHA | 1 | | 243 | 29666 | 611766 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | MTO1 CL E G H | 25821 | 614702 | Combined oxidative phosphorylation deficiency 10 | 614702 | C3553529 | OMIM | 1 | | 638 | 19261 | 614667 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | MTO1 CL E G H | 25821 | 614702 | Combined oxidative phosphorylation deficiency 10 | 614702 | C3553529 | OMIM | 1 | | 638 | 19261 | 614667 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | MTO1 CL E G H | 25821 | 614702 | Combined oxidative phosphorylation deficiency 10 | 614702 | C3553529 | OMIM | 1 | | 638 | 19261 | 614667 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | MYBPC3 CL E G H | 4607 | 115197 | Familial hypertrophic cardiomyopathy 4 | 115197 | C1861862 | OMIM | 1 | | 3317 | 7551 | 600958 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | MYBPC3 CL E G H | 4607 | 115197 | Familial hypertrophic cardiomyopathy 4 | 115197 | C1861862 | OMIM | 1 | | 3317 | 7551 | 600958 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | MYBPC3 CL E G H | 4607 | 115197 | Familial hypertrophic cardiomyopathy 4 | 115197 | C1861862 | OMIM | 1 | | 3317 | 7551 | 600958 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | MYH6 CL E G H | 4624 | 613251 | Familial hypertrophic cardiomyopathy 14 | 613251 | C2750467 | OMIM | 1 | | 2116 | 7576 | 160710 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | MYH6 CL E G H | 4624 | 613251 | Familial hypertrophic cardiomyopathy 14 | 613251 | C2750467 | OMIM | 1 | | 2116 | 7576 | 160710 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | MYH6 CL E G H | 4624 | 613251 | Familial hypertrophic cardiomyopathy 14 | 613251 | C2750467 | OMIM | 1 | | 2116 | 7576 | 160710 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | MYH7 CL E G H | 4625 | 255160 | Myopathy, myosin storage, autosomal recessive | 255160 | C1850709 | OMIM | 1 | | 4106 | 7577 | 160760 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | MYH7 CL E G H | 4625 | 255160 | Myopathy, myosin storage, autosomal recessive | 255160 | C1850709 | OMIM | 1 | | 4106 | 7577 | 160760 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | MYH7 CL E G H | 4625 | 255160 | Myopathy, myosin storage, autosomal recessive | 255160 | C1850709 | OMIM | 1 | | 4106 | 7577 | 160760 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | MYL3 CL E G H | 4634 | 608751 | Familial hypertrophic cardiomyopathy 8 | 608751 | C1837471 | OMIM | 1 | | 346 | 7584 | 160790 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | MYL3 CL E G H | 4634 | 608751 | Familial hypertrophic cardiomyopathy 8 | 608751 | C1837471 | OMIM | 1 | | 346 | 7584 | 160790 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | MYL3 CL E G H | 4634 | 608751 | Familial hypertrophic cardiomyopathy 8 | 608751 | C1837471 | OMIM | 1 | | 346 | 7584 | 160790 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | NAGA CL E G H | 4668 | 79281 | | | | ORPHA | 1 | | 230 | 7631 | 104170 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | NAGA CL E G H | 4668 | 79281 | | | | ORPHA | 1 | | 230 | 7631 | 104170 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | NAGA CL E G H | 4668 | 79281 | | | | ORPHA | 1 | | 230 | 7631 | 104170 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | NDUFA10 CL E G H | 4705 | 255241 | | | | ORPHA | 1 | | 421 | 7684 | 603835 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | NDUFA10 CL E G H | 4705 | 255241 | | | | ORPHA | 1 | | 421 | 7684 | 603835 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | NDUFA10 CL E G H | 4705 | 255241 | | | | ORPHA | 1 | | 421 | 7684 | 603835 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | NDUFA12 CL E G H | 55967 | 255241 | | | | ORPHA | 1 | | 92 | 23987 | 614530 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | NDUFA12 CL E G H | 55967 | 255241 | | | | ORPHA | 1 | | 92 | 23987 | 614530 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | NDUFA12 CL E G H | 55967 | 255241 | | | | ORPHA | 1 | | 92 | 23987 | 614530 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | NDUFA13 CL E G H | 51079 | 255241 | | | | ORPHA | 1 | | 65 | 17194 | 609435 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | NDUFA13 CL E G H | 51079 | 255241 | | | | ORPHA | 1 | | 65 | 17194 | 609435 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | NDUFA13 CL E G H | 51079 | 255241 | | | | ORPHA | 1 | | 65 | 17194 | 609435 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | NDUFA2 CL E G H | 4695 | 255241 | | | | ORPHA | 1 | | 95 | 7685 | 602137 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | NDUFA2 CL E G H | 4695 | 255241 | | | | ORPHA | 1 | | 95 | 7685 | 602137 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | NDUFA2 CL E G H | 4695 | 255241 | | | | ORPHA | 1 | | 95 | 7685 | 602137 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | NDUFA4 CL E G H | 4697 | 255241 | | | | ORPHA | 1 | | 96 | 7687 | 603833 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | NDUFA4 CL E G H | 4697 | 255241 | | | | ORPHA | 1 | | 96 | 7687 | 603833 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | NDUFA4 CL E G H | 4697 | 255241 | | | | ORPHA | 1 | | 96 | 7687 | 603833 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | NDUFA9 CL E G H | 4704 | 255241 | | | | ORPHA | 1 | | 235 | 7693 | 603834 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | NDUFA9 CL E G H | 4704 | 255241 | | | | ORPHA | 1 | | 235 | 7693 | 603834 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | NDUFA9 CL E G H | 4704 | 255241 | | | | ORPHA | 1 | | 235 | 7693 | 603834 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | NDUFAF1 CL E G H | 51103 | 618234 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 | 618234 | | OMIM | 1 | | 154 | 18828 | 606934 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | NDUFAF1 CL E G H | 51103 | 618234 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 | 618234 | | OMIM | 1 | | 154 | 18828 | 606934 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | NDUFAF1 CL E G H | 51103 | 618234 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 | 618234 | | OMIM | 1 | | 154 | 18828 | 606934 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | NDUFAF2 CL E G H | 91942 | 255241 | | | | ORPHA | 1 | | 132 | 28086 | 609653 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | NDUFAF2 CL E G H | 91942 | 255241 | | | | ORPHA | 1 | | 132 | 28086 | 609653 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | NDUFAF2 CL E G H | 91942 | 255241 | | | | ORPHA | 1 | | 132 | 28086 | 609653 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | NDUFAF5 CL E G H | 79133 | 255241 | | | | ORPHA | 1 | | 383 | 15899 | 612360 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | NDUFAF5 CL E G H | 79133 | 255241 | | | | ORPHA | 1 | | 383 | 15899 | 612360 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | NDUFAF5 CL E G H | 79133 | 255241 | | | | ORPHA | 1 | | 383 | 15899 | 612360 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | NDUFAF6 CL E G H | 137682 | 255241 | | | | ORPHA | 1 | | 281 | 28625 | 612392 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | NDUFAF6 CL E G H | 137682 | 255241 | | | | ORPHA | 1 | | 281 | 28625 | 612392 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | NDUFAF6 CL E G H | 137682 | 255241 | | | | ORPHA | 1 | | 281 | 28625 | 612392 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | NDUFB11 CL E G H | 54539 | 2556 | | | | ORPHA | 1 | | 209 | 20372 | 300403 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | NDUFB11 CL E G H | 54539 | 2556 | | | | ORPHA | 1 | | 209 | 20372 | 300403 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | NDUFB11 CL E G H | 54539 | 2556 | | | | ORPHA | 1 | | 209 | 20372 | 300403 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | NDUFS1 CL E G H | 4719 | 255241 | | | | ORPHA | 1 | | 424 | 7707 | 157655 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | NDUFS1 CL E G H | 4719 | 255241 | | | | ORPHA | 1 | | 424 | 7707 | 157655 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | NDUFS1 CL E G H | 4719 | 255241 | | | | ORPHA | 1 | | 424 | 7707 | 157655 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | NDUFS2 CL E G H | 4720 | 255241 | | | | ORPHA | 1 | | 247 | 7708 | 602985 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | NDUFS2 CL E G H | 4720 | 255241 | | | | ORPHA | 1 | | 247 | 7708 | 602985 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | NDUFS2 CL E G H | 4720 | 255241 | | | | ORPHA | 1 | | 247 | 7708 | 602985 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | NDUFS3 CL E G H | 4722 | 255241 | | | | ORPHA | 1 | | 147 | 7710 | 603846 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | NDUFS3 CL E G H | 4722 | 255241 | | | | ORPHA | 1 | | 147 | 7710 | 603846 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | NDUFS3 CL E G H | 4722 | 255241 | | | | ORPHA | 1 | | 147 | 7710 | 603846 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | NDUFS4 CL E G H | 4724 | 255241 | | | | ORPHA | 1 | | 139 | 7711 | 602694 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | NDUFS4 CL E G H | 4724 | 255241 | | | | ORPHA | 1 | | 139 | 7711 | 602694 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | NDUFS4 CL E G H | 4724 | 255241 | | | | ORPHA | 1 | | 139 | 7711 | 602694 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | NDUFS4 CL E G H | 4724 | 252010 | Mitochondrial complex I deficiency | 252010 | C1838979 | OMIM | 1 | | 139 | 7711 | 602694 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | NDUFS4 CL E G H | 4724 | 252010 | Mitochondrial complex I deficiency | 252010 | C1838979 | OMIM | 1 | | 139 | 7711 | 602694 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | NDUFS4 CL E G H | 4724 | 252010 | Mitochondrial complex I deficiency | 252010 | C1838979 | OMIM | 1 | | 139 | 7711 | 602694 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | NDUFS7 CL E G H | 374291 | 255241 | | | | ORPHA | 1 | | 215 | 7714 | 601825 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | NDUFS7 CL E G H | 374291 | 255241 | | | | ORPHA | 1 | | 215 | 7714 | 601825 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | NDUFS7 CL E G H | 374291 | 255241 | | | | ORPHA | 1 | | 215 | 7714 | 601825 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | NDUFS8 CL E G H | 4728 | 255241 | | | | ORPHA | 1 | | 129 | 7715 | 602141 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | NDUFS8 CL E G H | 4728 | 255241 | | | | ORPHA | 1 | | 129 | 7715 | 602141 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | NDUFS8 CL E G H | 4728 | 255241 | | | | ORPHA | 1 | | 129 | 7715 | 602141 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | NDUFV1 CL E G H | 4723 | 255241 | | | | ORPHA | 1 | | 315 | 7716 | 161015 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | NDUFV1 CL E G H | 4723 | 255241 | | | | ORPHA | 1 | | 315 | 7716 | 161015 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | NDUFV1 CL E G H | 4723 | 255241 | | | | ORPHA | 1 | | 315 | 7716 | 161015 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | NDUFV2 CL E G H | 4729 | 255241 | | | | ORPHA | 1 | | 229 | 7717 | 600532 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | NDUFV2 CL E G H | 4729 | 255241 | | | | ORPHA | 1 | | 229 | 7717 | 600532 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | NDUFV2 CL E G H | 4729 | 255241 | | | | ORPHA | 1 | | 229 | 7717 | 600532 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | NEK8 CL E G H | 284086 | 615415 | Renal-hepatic-pancreatic dysplasia 2 | 615415 | C3809434 | OMIM | 1 | | 279 | 13387 | 609799 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | NEK8 CL E G H | 284086 | 615415 | Renal-hepatic-pancreatic dysplasia 2 | 615415 | C3809434 | OMIM | 1 | | 279 | 13387 | 609799 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | NEK8 CL E G H | 284086 | 615415 | Renal-hepatic-pancreatic dysplasia 2 | 615415 | C3809434 | OMIM | 1 | | 279 | 13387 | 609799 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | NF1 CL E G H | 4763 | 638 | | | | ORPHA | 1 | | 12392 | 7765 | 613113 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | NF1 CL E G H | 4763 | 638 | | | | ORPHA | 1 | | 12392 | 7765 | 613113 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | NF1 CL E G H | 4763 | 638 | | | | ORPHA | 1 | | 12392 | 7765 | 613113 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | OPA1 CL E G H | 4976 | 616896 | Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) | 616896 | C4225163 | OMIM | 1 | | 1224 | 8140 | 605290 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | OPA1 CL E G H | 4976 | 616896 | Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) | 616896 | C4225163 | OMIM | 1 | | 1224 | 8140 | 605290 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | OPA1 CL E G H | 4976 | 616896 | Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) | 616896 | C4225163 | OMIM | 1 | | 1224 | 8140 | 605290 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | PDHA1 CL E G H | 5160 | 255241 | | | | ORPHA | 1 | | 679 | 8806 | 300502 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | PDHA1 CL E G H | 5160 | 255241 | | | | ORPHA | 1 | | 679 | 8806 | 300502 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | PDHA1 CL E G H | 5160 | 255241 | | | | ORPHA | 1 | | 679 | 8806 | 300502 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | PET100 CL E G H | 100131801 | 255241 | | | | ORPHA | 1 | | 76 | 40038 | 614770 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | PET100 CL E G H | 100131801 | 255241 | | | | ORPHA | 1 | | 76 | 40038 | 614770 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | PET100 CL E G H | 100131801 | 255241 | | | | ORPHA | 1 | | 76 | 40038 | 614770 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | PET100 CL E G H | 100131801 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 76 | 40038 | 614770 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | PET100 CL E G H | 100131801 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 76 | 40038 | 614770 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | PET100 CL E G H | 100131801 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 76 | 40038 | 614770 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | PPARG CL E G H | 5468 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 166 | 9236 | 601487 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | PPARG CL E G H | 5468 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 166 | 9236 | 601487 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | PPARG CL E G H | 5468 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 166 | 9236 | 601487 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | PPP1CB CL E G H | 5500 | 2701 | Noonan syndrome-like disorder with loose anagen hair | | C3501846 | ORPHA | 1 | | 215 | 9282 | 600590 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | PPP1CB CL E G H | 5500 | 2701 | Noonan syndrome-like disorder with loose anagen hair | | C3501846 | ORPHA | 1 | | 215 | 9282 | 600590 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | PPP1CB CL E G H | 5500 | 2701 | Noonan syndrome-like disorder with loose anagen hair | | C3501846 | ORPHA | 1 | | 215 | 9282 | 600590 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | PRKAG2 CL E G H | 51422 | 600858 | Familial hypertrophic cardiomyopathy 6 | 600858 | C1833236 | OMIM | 1 | | 1079 | 9386 | 602743 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | PRKAG2 CL E G H | 51422 | 600858 | Familial hypertrophic cardiomyopathy 6 | 600858 | C1833236 | OMIM | 1 | | 1079 | 9386 | 602743 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | PRKAG2 CL E G H | 51422 | 600858 | Familial hypertrophic cardiomyopathy 6 | 600858 | C1833236 | OMIM | 1 | | 1079 | 9386 | 602743 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | PTPN11 CL E G H | 5781 | 500 | | | | ORPHA | 1 | | 854 | 9644 | 176876 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | PTPN11 CL E G H | 5781 | 500 | | | | ORPHA | 1 | | 854 | 9644 | 176876 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | PTPN11 CL E G H | 5781 | 500 | | | | ORPHA | 1 | | 854 | 9644 | 176876 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | PTPN11 CL E G H | 5781 | 163950 | Noonan syndrome 1 | 163950 | C0041409 | OMIM | 1 | | 854 | 9644 | 176876 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | PTPN11 CL E G H | 5781 | 163950 | Noonan syndrome 1 | 163950 | C0041409 | OMIM | 1 | | 854 | 9644 | 176876 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | PTPN11 CL E G H | 5781 | 163950 | Noonan syndrome 1 | 163950 | C0041409 | OMIM | 1 | | 854 | 9644 | 176876 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | RAF1 CL E G H | 5894 | 500 | | | | ORPHA | 1 | | 990 | 9829 | 164760 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | RAF1 CL E G H | 5894 | 500 | | | | ORPHA | 1 | | 990 | 9829 | 164760 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | RAF1 CL E G H | 5894 | 500 | | | | ORPHA | 1 | | 990 | 9829 | 164760 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | RAF1 CL E G H | 5894 | 611554 | LEOPARD syndrome 2 | 611554 | C1969056 | OMIM | 1 | | 990 | 9829 | 164760 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | RAF1 CL E G H | 5894 | 611554 | LEOPARD syndrome 2 | 611554 | C1969056 | OMIM | 1 | | 990 | 9829 | 164760 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | RAF1 CL E G H | 5894 | 611554 | LEOPARD syndrome 2 | 611554 | C1969056 | OMIM | 1 | | 990 | 9829 | 164760 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | RIT1 CL E G H | 6016 | 615355 | Noonan syndrome 8 | 615355 | C3809233 | OMIM | 1 | | 269 | 10023 | 609591 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | RIT1 CL E G H | 6016 | 615355 | Noonan syndrome 8 | 615355 | C3809233 | OMIM | 1 | | 269 | 10023 | 609591 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | RIT1 CL E G H | 6016 | 615355 | Noonan syndrome 8 | 615355 | C3809233 | OMIM | 1 | | 269 | 10023 | 609591 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | SCO1 CL E G H | 6341 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 212 | 10603 | 603644 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | SCO1 CL E G H | 6341 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 212 | 10603 | 603644 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | SCO1 CL E G H | 6341 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 212 | 10603 | 603644 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | SCO2 CL E G H | 9997 | 604377 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency | 604377 | C1858424 | OMIM | 1 | | 701 | 10604 | 604272 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | SCO2 CL E G H | 9997 | 604377 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency | 604377 | C1858424 | OMIM | 1 | | 701 | 10604 | 604272 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | SCO2 CL E G H | 9997 | 604377 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency | 604377 | C1858424 | OMIM | 1 | | 701 | 10604 | 604272 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | SDHA CL E G H | 6389 | 3208 | | | | ORPHA | 1 | | 2503 | 10680 | 600857 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | SDHA CL E G H | 6389 | 255241 | | | | ORPHA | 1 | | 2503 | 10680 | 600857 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | SDHA CL E G H | 6389 | 3208 | | | | ORPHA | 1 | | 2503 | 10680 | 600857 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | SDHA CL E G H | 6389 | 255241 | | | | ORPHA | 1 | | 2503 | 10680 | 600857 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | SDHA CL E G H | 6389 | 3208 | | | | ORPHA | 1 | | 2503 | 10680 | 600857 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | SDHA CL E G H | 6389 | 255241 | | | | ORPHA | 1 | | 2503 | 10680 | 600857 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | SDHA CL E G H | 6389 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 2503 | 10680 | 600857 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | SDHA CL E G H | 6389 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 2503 | 10680 | 600857 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | SDHA CL E G H | 6389 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 2503 | 10680 | 600857 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | SDHAF1 CL E G H | 644096 | 3208 | | | | ORPHA | 1 | | 77 | 33867 | 612848 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | SDHAF1 CL E G H | 644096 | 3208 | | | | ORPHA | 1 | | 77 | 33867 | 612848 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | SDHAF1 CL E G H | 644096 | 3208 | | | | ORPHA | 1 | | 77 | 33867 | 612848 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | SDHAF1 CL E G H | 644096 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 77 | 33867 | 612848 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | SDHAF1 CL E G H | 644096 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 77 | 33867 | 612848 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | SDHAF1 CL E G H | 644096 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 77 | 33867 | 612848 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | SDHB CL E G H | 6390 | 3208 | | | | ORPHA | 1 | | 1249 | 10681 | 185470 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | SDHB CL E G H | 6390 | 3208 | | | | ORPHA | 1 | | 1249 | 10681 | 185470 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | SDHB CL E G H | 6390 | 3208 | | | | ORPHA | 1 | | 1249 | 10681 | 185470 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | SDHD CL E G H | 6392 | 3208 | | | | ORPHA | 1 | | 686 | 10683 | 602690 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | SDHD CL E G H | 6392 | 3208 | | | | ORPHA | 1 | | 686 | 10683 | 602690 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | SDHD CL E G H | 6392 | 3208 | | | | ORPHA | 1 | | 686 | 10683 | 602690 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | SDHD CL E G H | 6392 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 686 | 10683 | 602690 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | SDHD CL E G H | 6392 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 686 | 10683 | 602690 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | SDHD CL E G H | 6392 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 686 | 10683 | 602690 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | SHOC2 CL E G H | 8036 | 2701 | Noonan syndrome-like disorder with loose anagen hair | | C3501846 | ORPHA | 1 | | 452 | 15454 | 602775 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | SHOC2 CL E G H | 8036 | 2701 | Noonan syndrome-like disorder with loose anagen hair | | C3501846 | ORPHA | 1 | | 452 | 15454 | 602775 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | SHOC2 CL E G H | 8036 | 2701 | Noonan syndrome-like disorder with loose anagen hair | | C3501846 | ORPHA | 1 | | 452 | 15454 | 602775 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | SHOC2 CL E G H | 8036 | 607721 | Noonan syndrome-like disorder with loose anagen hair 1 | 607721 | C1843181 | OMIM | 1 | | 452 | 15454 | 602775 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | SHOC2 CL E G H | 8036 | 607721 | Noonan syndrome-like disorder with loose anagen hair 1 | 607721 | C1843181 | OMIM | 1 | | 452 | 15454 | 602775 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | SHOC2 CL E G H | 8036 | 607721 | Noonan syndrome-like disorder with loose anagen hair 1 | 607721 | C1843181 | OMIM | 1 | | 452 | 15454 | 602775 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | SLC19A3 CL E G H | 80704 | 255241 | | | | ORPHA | 1 | | 563 | 16266 | 606152 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | SLC19A3 CL E G H | 80704 | 255241 | | | | ORPHA | 1 | | 563 | 16266 | 606152 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | SLC19A3 CL E G H | 80704 | 255241 | | | | ORPHA | 1 | | 563 | 16266 | 606152 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | SLC22A5 CL E G H | 6584 | 212140 | Renal carnitine transport defect | 212140 | C0342788 | OMIM | 1 | | 1027 | 10969 | 603377 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | SLC22A5 CL E G H | 6584 | 212140 | Renal carnitine transport defect | 212140 | C0342788 | OMIM | 1 | | 1027 | 10969 | 603377 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | SLC22A5 CL E G H | 6584 | 212140 | Renal carnitine transport defect | 212140 | C0342788 | OMIM | 1 | | 1027 | 10969 | 603377 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | SLC25A3 CL E G H | 5250 | 91130 | | | | ORPHA | 1 | | 176 | 10989 | 600370 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | SLC25A3 CL E G H | 5250 | 91130 | | | | ORPHA | 1 | | 176 | 10989 | 600370 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | SLC25A3 CL E G H | 5250 | 91130 | | | | ORPHA | 1 | | 176 | 10989 | 600370 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | SLC25A3 CL E G H | 5250 | 610773 | Mitochondrial phosphate carrier deficiency | 610773 | C1835845 | OMIM | 1 | | 176 | 10989 | 600370 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | SLC25A3 CL E G H | 5250 | 610773 | Mitochondrial phosphate carrier deficiency | 610773 | C1835845 | OMIM | 1 | | 176 | 10989 | 600370 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | SLC25A3 CL E G H | 5250 | 610773 | Mitochondrial phosphate carrier deficiency | 610773 | C1835845 | OMIM | 1 | | 176 | 10989 | 600370 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | SLC25A4 CL E G H | 291 | 1369 | | | | ORPHA | 1 | | 333 | 10990 | 103220 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | SLC25A4 CL E G H | 291 | 1369 | | | | ORPHA | 1 | | 333 | 10990 | 103220 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | SLC25A4 CL E G H | 291 | 1369 | | | | ORPHA | 1 | | 333 | 10990 | 103220 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | SLC25A4 CL E G H | 291 | 615418 | Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive | 615418 | C3809443 | OMIM | 1 | | 333 | 10990 | 103220 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | SLC25A4 CL E G H | 291 | 615418 | Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive | 615418 | C3809443 | OMIM | 1 | | 333 | 10990 | 103220 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | SLC25A4 CL E G H | 291 | 615418 | Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive | 615418 | C3809443 | OMIM | 1 | | 333 | 10990 | 103220 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | SOS1 CL E G H | 6654 | 610733 | Noonan syndrome 4 | 610733 | C1853120 | OMIM | 1 | | 1503 | 11187 | 182530 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | SOS1 CL E G H | 6654 | 610733 | Noonan syndrome 4 | 610733 | C1853120 | OMIM | 1 | | 1503 | 11187 | 182530 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | SOS1 CL E G H | 6654 | 610733 | Noonan syndrome 4 | 610733 | C1853120 | OMIM | 1 | | 1503 | 11187 | 182530 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | SURF1 CL E G H | 6834 | 255241 | | | | ORPHA | 1 | | 532 | 11474 | 185620 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | SURF1 CL E G H | 6834 | 255241 | | | | ORPHA | 1 | | 532 | 11474 | 185620 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | SURF1 CL E G H | 6834 | 255241 | | | | ORPHA | 1 | | 532 | 11474 | 185620 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | TACO1 CL E G H | 51204 | 255241 | | | | ORPHA | 1 | | 117 | 24316 | 612958 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | TACO1 CL E G H | 51204 | 255241 | | | | ORPHA | 1 | | 117 | 24316 | 612958 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | TACO1 CL E G H | 51204 | 255241 | | | | ORPHA | 1 | | 117 | 24316 | 612958 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | TACO1 CL E G H | 51204 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 117 | 24316 | 612958 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | TACO1 CL E G H | 51204 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 117 | 24316 | 612958 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | TACO1 CL E G H | 51204 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 117 | 24316 | 612958 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | TAPT1 CL E G H | 202018 | 616897 | Osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type | 616897 | C4225162 | OMIM | 1 | | 284 | 26887 | 612758 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | TAPT1 CL E G H | 202018 | 616897 | Osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type | 616897 | C4225162 | OMIM | 1 | | 284 | 26887 | 612758 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | TAPT1 CL E G H | 202018 | 616897 | Osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type | 616897 | C4225162 | OMIM | 1 | | 284 | 26887 | 612758 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | TAZ CL E G H | 6901 | 302060 | 3-Methylglutaconic aciduria type 2 | 302060 | C0574083 | OMIM | 1 | | | 11577 | 300394 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | TAZ CL E G H | 6901 | 302060 | 3-Methylglutaconic aciduria type 2 | 302060 | C0574083 | OMIM | 1 | | | 11577 | 300394 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | TAZ CL E G H | 6901 | 302060 | 3-Methylglutaconic aciduria type 2 | 302060 | C0574083 | OMIM | 1 | | | 11577 | 300394 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | TMEM126B CL E G H | 55863 | 618250 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29 | 618250 | | OMIM | 1 | | 116 | 30883 | 615533 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | TMEM126B CL E G H | 55863 | 618250 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29 | 618250 | | OMIM | 1 | | 116 | 30883 | 615533 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | TMEM126B CL E G H | 55863 | 618250 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29 | 618250 | | OMIM | 1 | | 116 | 30883 | 615533 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | TMEM70 CL E G H | 54968 | 1194 | | | | ORPHA | 1 | | 325 | 26050 | 612418 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | TMEM70 CL E G H | 54968 | 1194 | | | | ORPHA | 1 | | 325 | 26050 | 612418 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | TMEM70 CL E G H | 54968 | 1194 | | | | ORPHA | 1 | | 325 | 26050 | 612418 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | TMEM70 CL E G H | 54968 | 614052 | Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 | 614052 | C3279699 | OMIM | 1 | | 325 | 26050 | 612418 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | TMEM70 CL E G H | 54968 | 614052 | Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 | 614052 | C3279699 | OMIM | 1 | | 325 | 26050 | 612418 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | TMEM70 CL E G H | 54968 | 614052 | Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 | 614052 | C3279699 | OMIM | 1 | | 325 | 26050 | 612418 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | TNNC1 CL E G H | 7134 | 613243 | Familial hypertrophic cardiomyopathy 13 | 613243 | C2750472 | OMIM | 1 | | 300 | 11943 | 191040 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | TNNC1 CL E G H | 7134 | 613243 | Familial hypertrophic cardiomyopathy 13 | 613243 | C2750472 | OMIM | 1 | | 300 | 11943 | 191040 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | TNNC1 CL E G H | 7134 | 613243 | Familial hypertrophic cardiomyopathy 13 | 613243 | C2750472 | OMIM | 1 | | 300 | 11943 | 191040 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | TNNT2 CL E G H | 7139 | 115195 | Familial hypertrophic cardiomyopathy 2 | 115195 | C1861864 | OMIM | 1 | | 817 | 11949 | 191045 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | TNNT2 CL E G H | 7139 | 115195 | Familial hypertrophic cardiomyopathy 2 | 115195 | C1861864 | OMIM | 1 | | 817 | 11949 | 191045 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | TNNT2 CL E G H | 7139 | 115195 | Familial hypertrophic cardiomyopathy 2 | 115195 | C1861864 | OMIM | 1 | | 817 | 11949 | 191045 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | TPM1 CL E G H | 7168 | 115196 | Familial hypertrophic cardiomyopathy 3 | 115196 | C1861863 | OMIM | 1 | | 767 | 12010 | 191010 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | TPM1 CL E G H | 7168 | 115196 | Familial hypertrophic cardiomyopathy 3 | 115196 | C1861863 | OMIM | 1 | | 767 | 12010 | 191010 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | TPM1 CL E G H | 7168 | 115196 | Familial hypertrophic cardiomyopathy 3 | 115196 | C1861863 | OMIM | 1 | | 767 | 12010 | 191010 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | TTN CL E G H | 7273 | 613765 | Familial hypertrophic cardiomyopathy 9 | 613765 | C1861065 | OMIM | 1 | | 27503 | 12403 | 188840 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | TTN CL E G H | 7273 | 613765 | Familial hypertrophic cardiomyopathy 9 | 613765 | C1861065 | OMIM | 1 | | 27503 | 12403 | 188840 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | TTN CL E G H | 7273 | 613765 | Familial hypertrophic cardiomyopathy 9 | 613765 | C1861065 | OMIM | 1 | | 27503 | 12403 | 188840 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | VCL CL E G H | 7414 | 613255 | Familial hypertrophic cardiomyopathy 15 | 613255 | C2750459 | OMIM | 1 | | 1175 | 12665 | 193065 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | VCL CL E G H | 7414 | 613255 | Familial hypertrophic cardiomyopathy 15 | 613255 | C2750459 | OMIM | 1 | | 1175 | 12665 | 193065 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | VCL CL E G H | 7414 | 613255 | Familial hypertrophic cardiomyopathy 15 | 613255 | C2750459 | OMIM | 1 | | 1175 | 12665 | 193065 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | VPS33A CL E G H | 65082 | 617303 | Mucopolysaccharidosis-plus syndrome | 617303 | C4310627 | OMIM | 1 | | 274 | 18179 | 610034 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | VPS33A CL E G H | 65082 | 617303 | Mucopolysaccharidosis-plus syndrome | 617303 | C4310627 | OMIM | 1 | | 274 | 18179 | 610034 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | VPS33A CL E G H | 65082 | 617303 | Mucopolysaccharidosis-plus syndrome | 617303 | C4310627 | OMIM | 1 | | 274 | 18179 | 610034 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | ABCC9 CL E G H | 10060 | 1517 | | | | ORPHA | 0 | | 1507 | 60 | 601439 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | ADAR CL E G H | 103 | 51 | | | | ORPHA | 0 | | 1122 | 225 | 146920 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | AIP CL E G H | 9049 | 963 | | | | ORPHA | 0 | | 867 | 358 | 605555 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | ANKS6 CL E G H | 203286 | 615382 | Nephronophthisis 16 | 615382 | C3809320 | OMIM | 0 | | 361 | 26724 | 615370 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | ATAD3A CL E G H | 55210 | 496790 | | | | ORPHA | 0 | | 399 | 25567 | 612316 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | ATAD3A CL E G H | 55210 | 617183 | Harel-Yoon syndrome | 617183 | C4310677 | OMIM | 0 | | 399 | 25567 | 612316 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | BAZ1B CL E G H | 9031 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 249 | 961 | 605681 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | BRAF CL E G H | 673 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 0 | | 1182 | 1097 | 164757 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | BRCA1 CL E G H | 672 | 84 | | | | ORPHA | 0 | | 13955 | 1100 | 113705 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | BRCA2 CL E G H | 675 | 84 | | | | ORPHA | 0 | | 17543 | 1101 | 600185 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | BRIP1 CL E G H | 83990 | 84 | | | | ORPHA | 0 | | 5110 | 20473 | 605882 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | CLIP2 CL E G H | 7461 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 229 | 2586 | 603432 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | COQ4 CL E G H | 51117 | 616276 | Coenzyme Q10 deficiency, primary, 7 | 616276 | C4225392 | OMIM | 0 | | 291 | 19693 | 612898 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | CPT1A CL E G H | 1374 | 156 | | | | ORPHA | 0 | | 837 | 2328 | 600528 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | DES CL E G H | 1674 | 601419 | Myofibrillar myopathy 1 | 601419 | C1832370 | OMIM | 0 | | 976 | 2770 | 125660 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | ELN CL E G H | 2006 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 966 | 3327 | 130160 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | ERCC4 CL E G H | 2072 | 84 | | | | ORPHA | 0 | | 726 | 3436 | 133520 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | FANCA CL E G H | 2175 | 84 | | | | ORPHA | 0 | | 4396 | 3582 | 607139 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | FANCB CL E G H | 2187 | 84 | | | | ORPHA | 0 | | 633 | 3583 | 300515 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | FANCC CL E G H | 2176 | 84 | | | | ORPHA | 0 | | 1743 | 3584 | 613899 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | FANCD2 CL E G H | 2177 | 84 | | | | ORPHA | 0 | | 1262 | 3585 | 613984 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | FANCE CL E G H | 2178 | 84 | | | | ORPHA | 0 | | 527 | 3586 | 613976 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | FANCF CL E G H | 2188 | 84 | | | | ORPHA | 0 | | 434 | 3587 | 613897 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | FANCG CL E G H | 2189 | 84 | | | | ORPHA | 0 | | 790 | 3588 | 602956 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | FANCI CL E G H | 55215 | 84 | | | | ORPHA | 0 | | 1506 | 25568 | 611360 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | FANCL CL E G H | 55120 | 84 | | | | ORPHA | 0 | | 542 | 20748 | 608111 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | FANCM CL E G H | 57697 | 84 | | | | ORPHA | 0 | | 2045 | 23168 | 609644 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | FBXL4 CL E G H | 26235 | 615471 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | 615471 | C3809592 | OMIM | 0 | | 566 | 13601 | 605654 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | GATA4 CL E G H | 2626 | 251071 | | | | ORPHA | 0 | | 777 | 4173 | 600576 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | GLA CL E G H | 2717 | 324 | Slti Salem syndrome | | | ORPHA | 0 | | 1099 | 4296 | 300644 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | GPR101 CL E G H | 83550 | 963 | | | | ORPHA | 0 | | 211 | 14963 | 300393 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | GTF2I CL E G H | 2969 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 178 | 4659 | 601679 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | GTF2IRD1 CL E G H | 9569 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 266 | 4661 | 604318 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | HADH CL E G H | 3033 | 71212 | | | | ORPHA | 0 | | 229 | 4799 | 601609 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | IFIH1 CL E G H | 64135 | 51 | | | | ORPHA | 0 | | 1170 | 18873 | 606951 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | KCNJ8 CL E G H | 3764 | 1517 | | | | ORPHA | 0 | | 217 | 6269 | 600935 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | KLF1 CL E G H | 10661 | 613673 | Congenital dyserythropoietic anemia, type IV | 613673 | C3150926 | OMIM | 0 | | 129 | 6345 | 600599 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | KRAS CL E G H | 3845 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 0 | | 480 | 6407 | 190070 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | LIMK1 CL E G H | 3984 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 232 | 6613 | 601329 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | LMNA CL E G H | 4000 | 2348 | | | | ORPHA | 0 | | 1814 | 6636 | 150330 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | LMNA CL E G H | 4000 | 98853 | | | | ORPHA | 0 | | 1814 | 6636 | 150330 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | LMNA CL E G H | 4000 | 280365 | | | | ORPHA | 0 | | 1814 | 6636 | 150330 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | MAD2L2 CL E G H | 10459 | 84 | | | | ORPHA | 0 | | 121 | 6764 | 604094 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | MAP2K1 CL E G H | 5604 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 0 | | 493 | 6840 | 176872 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | MAP2K2 CL E G H | 5605 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 0 | | 720 | 6842 | 601263 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | MT-CO1 CL E G H | 4512 | 550 | | | | ORPHA | 0 | | | 7419 | 516030 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | MT-CO2 CL E G H | 4513 | 550 | | | | ORPHA | 0 | | | 7421 | 516040 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | MT-CO3 CL E G H | 4514 | 550 | | | | ORPHA | 0 | | | 7422 | 516050 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | MT-ND1 CL E G H | 4535 | 550 | | | | ORPHA | 0 | | | 7455 | 516000 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | MT-ND4 CL E G H | 4538 | 550 | | | | ORPHA | 0 | | | 7459 | 516003 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | MT-ND5 CL E G H | 4540 | 550 | | | | ORPHA | 0 | | | 7461 | 516005 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | MT-ND6 CL E G H | 4541 | 550 | | | | ORPHA | 0 | | | 7462 | 516006 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | MT-TF CL E G H | 4558 | 550 | | | | ORPHA | 0 | | | 7481 | 590070 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | MT-TH CL E G H | 4564 | 550 | | | | ORPHA | 0 | | | 7487 | 590040 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | MT-TL1 CL E G H | 4567 | 550 | | | | ORPHA | 0 | | | 7490 | 590050 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | MT-TQ CL E G H | 4572 | 550 | | | | ORPHA | 0 | | | 7495 | 590030 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | MT-TS1 CL E G H | 4574 | 550 | | | | ORPHA | 0 | | | 7497 | 590080 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | MT-TS2 CL E G H | 4575 | 550 | | | | ORPHA | 0 | | | 7498 | 590085 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | MT-TW CL E G H | 4578 | 550 | | | | ORPHA | 0 | | | 7501 | 590095 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | MYPN CL E G H | 84665 | 615248 | Dilated cardiomyopathy 1KK | 615248 | C3714995 | OMIM | 0 | | 1485 | 23246 | 608517 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NAGA CL E G H | 4668 | 79279 | | | | ORPHA | 0 | | 230 | 7631 | 104170 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | NRAS CL E G H | 4893 | 613224 | Noonan syndrome 6 | 613224 | C2750732 | OMIM | 0 | | 281 | 7989 | 164790 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | PALB2 CL E G H | 79728 | 84 | | | | ORPHA | 0 | | 5225 | 26144 | 610355 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | PPA2 CL E G H | 27068 | 617222 | Sudden cardiac failure, infantile | 617222 | C4310664 | OMIM | 0 | | 337 | 28883 | 609988 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | PPARG CL E G H | 5468 | 79083 | | | | ORPHA | 0 | | 166 | 9236 | 601487 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | PTPN11 CL E G H | 5781 | 151100 | LEOPARD syndrome 1 | 151100 | CN074218 | OMIM | 0 | | 854 | 9644 | 176876 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | RAD51 CL E G H | 5888 | 84 | | | | ORPHA | 0 | | 358 | 9817 | 179617 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | RAD51C CL E G H | 5889 | 84 | | | | ORPHA | 0 | | 1827 | 9820 | 602774 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | RAF1 CL E G H | 5894 | 611553 | Noonan syndrome 5 | 611553 | C1969057 | OMIM | 0 | | 990 | 9829 | 164760 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | RFC2 CL E G H | 5982 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 200 | 9970 | 600404 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | RFWD3 CL E G H | 55159 | 84 | | | | ORPHA | 0 | | 326 | 25539 | 614151 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | RNASEH2A CL E G H | 10535 | 51 | | | | ORPHA | 0 | | 404 | 18518 | 606034 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | RNASEH2B CL E G H | 79621 | 51 | | | | ORPHA | 0 | | 426 | 25671 | 610326 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | RNASEH2C CL E G H | 84153 | 51 | | | | ORPHA | 0 | | 307 | 24116 | 610330 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | SAMHD1 CL E G H | 25939 | 51 | | | | ORPHA | 0 | | 746 | 15925 | 606754 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | SLC25A4 CL E G H | 291 | 617184 | Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant | 617184 | C4310676 | OMIM | 0 | | 333 | 10990 | 103220 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | SLC2A10 CL E G H | 81031 | 3342 | | | | ORPHA | 0 | | 571 | 13444 | 606145 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | SLC30A10 CL E G H | 55532 | 309854 | | | | ORPHA | 0 | | 275 | 25355 | 611146 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | SLX4 CL E G H | 84464 | 84 | | | | ORPHA | 0 | | 1968 | 23845 | 613278 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | SMC1A CL E G H | 8243 | 300590 | Congenital muscular hypertrophy-cerebral syndrome | 300590 | C1802395 | OMIM | 0 | | 939 | 11111 | 300040 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | SYNE1 CL E G H | 23345 | 98853 | | | | ORPHA | 0 | | 5789 | 17089 | 608441 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | SYNE2 CL E G H | 23224 | 98853 | | | | ORPHA | 0 | | 3314 | 17084 | 608442 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | TANGO2 CL E G H | 128989 | 616878 | TANGO2-Related Metabolic Encephalopathy and Arrhythmias | 616878 | C4225171 | OMIM | 0 | | 715 | 25439 | 616830 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | TBL2 CL E G H | 26608 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 194 | 11586 | 605842 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | TGFB1 CL E G H | 7040 | 1328 | Chromosome 15 ring | | CN035931 | ORPHA | 0 | | 286 | 11766 | 190180 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | TMEM126A CL E G H | 84233 | 612989 | Optic atrophy 7 | 612989 | C2751812 | OMIM | 0 | | 185 | 25382 | 612988 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | TMEM43 CL E G H | 79188 | 98853 | | | | ORPHA | 0 | | 825 | 28472 | 612048 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | TPI1 CL E G H | 7167 | 868 | | | | ORPHA | 0 | | 181 | 12009 | 190450 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | TREX1 CL E G H | 11277 | 51 | | | | ORPHA | 0 | | 418 | 12269 | 606609 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | TTPA CL E G H | 7274 | 96 | | | | ORPHA | 0 | | 389 | 12404 | 600415 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | UBE2T CL E G H | 29089 | 84 | | | | ORPHA | 0 | | 45 | 25009 | 610538 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | VPS13A CL E G H | 23230 | 2388 | | | | ORPHA | 0 | | 2362 | 1908 | 605978 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | XRCC2 CL E G H | 7516 | 84 | | | | ORPHA | 0 | | 697 | 12829 | 600375 |
HP:0001639 | HP:0001639 | Hypertrophic cardiomyopathy | 0 | YARS2 CL E G H | 51067 | 613561 | Myopathy, lactic acidosis, and sideroblastic anemia 2 | 613561 | C3150802 | OMIM | 0 | | 274 | 24249 | 610957 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | ABCC9 CL E G H | 10060 | 1517 | | | | ORPHA | 0 | | 1507 | 60 | 601439 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | ABCC9 CL E G H | 10060 | 1517 | | | | ORPHA | 0 | | 1507 | 60 | 601439 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | ABCC9 CL E G H | 10060 | 1517 | | | | ORPHA | 0 | | 1507 | 60 | 601439 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | ADAR CL E G H | 103 | 51 | | | | ORPHA | 0 | | 1122 | 225 | 146920 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | ADAR CL E G H | 103 | 51 | | | | ORPHA | 0 | | 1122 | 225 | 146920 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | ADAR CL E G H | 103 | 51 | | | | ORPHA | 0 | | 1122 | 225 | 146920 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | AIP CL E G H | 9049 | 963 | | | | ORPHA | 0 | | 867 | 358 | 605555 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | AIP CL E G H | 9049 | 963 | | | | ORPHA | 0 | | 867 | 358 | 605555 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | AIP CL E G H | 9049 | 963 | | | | ORPHA | 0 | | 867 | 358 | 605555 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | ANKS6 CL E G H | 203286 | 615382 | Nephronophthisis 16 | 615382 | C3809320 | OMIM | 0 | | 361 | 26724 | 615370 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | ANKS6 CL E G H | 203286 | 615382 | Nephronophthisis 16 | 615382 | C3809320 | OMIM | 0 | | 361 | 26724 | 615370 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | ANKS6 CL E G H | 203286 | 615382 | Nephronophthisis 16 | 615382 | C3809320 | OMIM | 0 | | 361 | 26724 | 615370 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | ATAD3A CL E G H | 55210 | 496790 | | | | ORPHA | 0 | | 399 | 25567 | 612316 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | ATAD3A CL E G H | 55210 | 496790 | | | | ORPHA | 0 | | 399 | 25567 | 612316 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | ATAD3A CL E G H | 55210 | 496790 | | | | ORPHA | 0 | | 399 | 25567 | 612316 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | ATAD3A CL E G H | 55210 | 617183 | Harel-Yoon syndrome | 617183 | C4310677 | OMIM | 0 | | 399 | 25567 | 612316 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | ATAD3A CL E G H | 55210 | 617183 | Harel-Yoon syndrome | 617183 | C4310677 | OMIM | 0 | | 399 | 25567 | 612316 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | ATAD3A CL E G H | 55210 | 617183 | Harel-Yoon syndrome | 617183 | C4310677 | OMIM | 0 | | 399 | 25567 | 612316 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | BAZ1B CL E G H | 9031 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 249 | 961 | 605681 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | BAZ1B CL E G H | 9031 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 249 | 961 | 605681 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | BAZ1B CL E G H | 9031 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 249 | 961 | 605681 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | BRAF CL E G H | 673 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 0 | | 1182 | 1097 | 164757 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | BRAF CL E G H | 673 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 0 | | 1182 | 1097 | 164757 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | BRAF CL E G H | 673 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 0 | | 1182 | 1097 | 164757 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | BRCA1 CL E G H | 672 | 84 | | | | ORPHA | 0 | | 13955 | 1100 | 113705 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | BRCA1 CL E G H | 672 | 84 | | | | ORPHA | 0 | | 13955 | 1100 | 113705 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | BRCA1 CL E G H | 672 | 84 | | | | ORPHA | 0 | | 13955 | 1100 | 113705 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | BRCA2 CL E G H | 675 | 84 | | | | ORPHA | 0 | | 17543 | 1101 | 600185 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | BRCA2 CL E G H | 675 | 84 | | | | ORPHA | 0 | | 17543 | 1101 | 600185 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | BRCA2 CL E G H | 675 | 84 | | | | ORPHA | 0 | | 17543 | 1101 | 600185 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | BRIP1 CL E G H | 83990 | 84 | | | | ORPHA | 0 | | 5110 | 20473 | 605882 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | BRIP1 CL E G H | 83990 | 84 | | | | ORPHA | 0 | | 5110 | 20473 | 605882 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | BRIP1 CL E G H | 83990 | 84 | | | | ORPHA | 0 | | 5110 | 20473 | 605882 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | CLIP2 CL E G H | 7461 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 229 | 2586 | 603432 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | CLIP2 CL E G H | 7461 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 229 | 2586 | 603432 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | CLIP2 CL E G H | 7461 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 229 | 2586 | 603432 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | COQ4 CL E G H | 51117 | 616276 | Coenzyme Q10 deficiency, primary, 7 | 616276 | C4225392 | OMIM | 0 | | 291 | 19693 | 612898 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | COQ4 CL E G H | 51117 | 616276 | Coenzyme Q10 deficiency, primary, 7 | 616276 | C4225392 | OMIM | 0 | | 291 | 19693 | 612898 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | COQ4 CL E G H | 51117 | 616276 | Coenzyme Q10 deficiency, primary, 7 | 616276 | C4225392 | OMIM | 0 | | 291 | 19693 | 612898 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | CPT1A CL E G H | 1374 | 156 | | | | ORPHA | 0 | | 837 | 2328 | 600528 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | CPT1A CL E G H | 1374 | 156 | | | | ORPHA | 0 | | 837 | 2328 | 600528 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | CPT1A CL E G H | 1374 | 156 | | | | ORPHA | 0 | | 837 | 2328 | 600528 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | DES CL E G H | 1674 | 601419 | Myofibrillar myopathy 1 | 601419 | C1832370 | OMIM | 0 | | 976 | 2770 | 125660 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | DES CL E G H | 1674 | 601419 | Myofibrillar myopathy 1 | 601419 | C1832370 | OMIM | 0 | | 976 | 2770 | 125660 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | DES CL E G H | 1674 | 601419 | Myofibrillar myopathy 1 | 601419 | C1832370 | OMIM | 0 | | 976 | 2770 | 125660 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | ELN CL E G H | 2006 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 966 | 3327 | 130160 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | ELN CL E G H | 2006 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 966 | 3327 | 130160 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | ELN CL E G H | 2006 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 966 | 3327 | 130160 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | ERCC4 CL E G H | 2072 | 84 | | | | ORPHA | 0 | | 726 | 3436 | 133520 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | ERCC4 CL E G H | 2072 | 84 | | | | ORPHA | 0 | | 726 | 3436 | 133520 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | ERCC4 CL E G H | 2072 | 84 | | | | ORPHA | 0 | | 726 | 3436 | 133520 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | FANCA CL E G H | 2175 | 84 | | | | ORPHA | 0 | | 4396 | 3582 | 607139 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | FANCA CL E G H | 2175 | 84 | | | | ORPHA | 0 | | 4396 | 3582 | 607139 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | FANCA CL E G H | 2175 | 84 | | | | ORPHA | 0 | | 4396 | 3582 | 607139 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | FANCB CL E G H | 2187 | 84 | | | | ORPHA | 0 | | 633 | 3583 | 300515 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | FANCB CL E G H | 2187 | 84 | | | | ORPHA | 0 | | 633 | 3583 | 300515 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | FANCB CL E G H | 2187 | 84 | | | | ORPHA | 0 | | 633 | 3583 | 300515 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | FANCC CL E G H | 2176 | 84 | | | | ORPHA | 0 | | 1743 | 3584 | 613899 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | FANCC CL E G H | 2176 | 84 | | | | ORPHA | 0 | | 1743 | 3584 | 613899 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | FANCC CL E G H | 2176 | 84 | | | | ORPHA | 0 | | 1743 | 3584 | 613899 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | FANCD2 CL E G H | 2177 | 84 | | | | ORPHA | 0 | | 1262 | 3585 | 613984 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | FANCD2 CL E G H | 2177 | 84 | | | | ORPHA | 0 | | 1262 | 3585 | 613984 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | FANCD2 CL E G H | 2177 | 84 | | | | ORPHA | 0 | | 1262 | 3585 | 613984 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | FANCE CL E G H | 2178 | 84 | | | | ORPHA | 0 | | 527 | 3586 | 613976 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | FANCE CL E G H | 2178 | 84 | | | | ORPHA | 0 | | 527 | 3586 | 613976 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | FANCE CL E G H | 2178 | 84 | | | | ORPHA | 0 | | 527 | 3586 | 613976 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | FANCF CL E G H | 2188 | 84 | | | | ORPHA | 0 | | 434 | 3587 | 613897 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | FANCF CL E G H | 2188 | 84 | | | | ORPHA | 0 | | 434 | 3587 | 613897 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | FANCF CL E G H | 2188 | 84 | | | | ORPHA | 0 | | 434 | 3587 | 613897 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | FANCG CL E G H | 2189 | 84 | | | | ORPHA | 0 | | 790 | 3588 | 602956 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | FANCG CL E G H | 2189 | 84 | | | | ORPHA | 0 | | 790 | 3588 | 602956 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | FANCG CL E G H | 2189 | 84 | | | | ORPHA | 0 | | 790 | 3588 | 602956 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | FANCI CL E G H | 55215 | 84 | | | | ORPHA | 0 | | 1506 | 25568 | 611360 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | FANCI CL E G H | 55215 | 84 | | | | ORPHA | 0 | | 1506 | 25568 | 611360 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | FANCI CL E G H | 55215 | 84 | | | | ORPHA | 0 | | 1506 | 25568 | 611360 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | FANCL CL E G H | 55120 | 84 | | | | ORPHA | 0 | | 542 | 20748 | 608111 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | FANCL CL E G H | 55120 | 84 | | | | ORPHA | 0 | | 542 | 20748 | 608111 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | FANCL CL E G H | 55120 | 84 | | | | ORPHA | 0 | | 542 | 20748 | 608111 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | FANCM CL E G H | 57697 | 84 | | | | ORPHA | 0 | | 2045 | 23168 | 609644 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | FANCM CL E G H | 57697 | 84 | | | | ORPHA | 0 | | 2045 | 23168 | 609644 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | FANCM CL E G H | 57697 | 84 | | | | ORPHA | 0 | | 2045 | 23168 | 609644 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | FBXL4 CL E G H | 26235 | 615471 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | 615471 | C3809592 | OMIM | 0 | | 566 | 13601 | 605654 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | FBXL4 CL E G H | 26235 | 615471 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | 615471 | C3809592 | OMIM | 0 | | 566 | 13601 | 605654 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | FBXL4 CL E G H | 26235 | 615471 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | 615471 | C3809592 | OMIM | 0 | | 566 | 13601 | 605654 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | GATA4 CL E G H | 2626 | 251071 | | | | ORPHA | 0 | | 777 | 4173 | 600576 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | GATA4 CL E G H | 2626 | 251071 | | | | ORPHA | 0 | | 777 | 4173 | 600576 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | GATA4 CL E G H | 2626 | 251071 | | | | ORPHA | 0 | | 777 | 4173 | 600576 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | GLA CL E G H | 2717 | 324 | Slti Salem syndrome | | | ORPHA | 0 | | 1099 | 4296 | 300644 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | GLA CL E G H | 2717 | 324 | Slti Salem syndrome | | | ORPHA | 0 | | 1099 | 4296 | 300644 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | GLA CL E G H | 2717 | 324 | Slti Salem syndrome | | | ORPHA | 0 | | 1099 | 4296 | 300644 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | GPR101 CL E G H | 83550 | 963 | | | | ORPHA | 0 | | 211 | 14963 | 300393 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | GPR101 CL E G H | 83550 | 963 | | | | ORPHA | 0 | | 211 | 14963 | 300393 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | GPR101 CL E G H | 83550 | 963 | | | | ORPHA | 0 | | 211 | 14963 | 300393 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | GTF2I CL E G H | 2969 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 178 | 4659 | 601679 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | GTF2I CL E G H | 2969 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 178 | 4659 | 601679 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | GTF2I CL E G H | 2969 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 178 | 4659 | 601679 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | GTF2IRD1 CL E G H | 9569 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 266 | 4661 | 604318 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | GTF2IRD1 CL E G H | 9569 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 266 | 4661 | 604318 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | GTF2IRD1 CL E G H | 9569 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 266 | 4661 | 604318 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | HADH CL E G H | 3033 | 71212 | | | | ORPHA | 0 | | 229 | 4799 | 601609 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | HADH CL E G H | 3033 | 71212 | | | | ORPHA | 0 | | 229 | 4799 | 601609 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | HADH CL E G H | 3033 | 71212 | | | | ORPHA | 0 | | 229 | 4799 | 601609 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | IFIH1 CL E G H | 64135 | 51 | | | | ORPHA | 0 | | 1170 | 18873 | 606951 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | IFIH1 CL E G H | 64135 | 51 | | | | ORPHA | 0 | | 1170 | 18873 | 606951 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | IFIH1 CL E G H | 64135 | 51 | | | | ORPHA | 0 | | 1170 | 18873 | 606951 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | KCNJ8 CL E G H | 3764 | 1517 | | | | ORPHA | 0 | | 217 | 6269 | 600935 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | KCNJ8 CL E G H | 3764 | 1517 | | | | ORPHA | 0 | | 217 | 6269 | 600935 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | KCNJ8 CL E G H | 3764 | 1517 | | | | ORPHA | 0 | | 217 | 6269 | 600935 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | KLF1 CL E G H | 10661 | 613673 | Congenital dyserythropoietic anemia, type IV | 613673 | C3150926 | OMIM | 0 | | 129 | 6345 | 600599 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | KLF1 CL E G H | 10661 | 613673 | Congenital dyserythropoietic anemia, type IV | 613673 | C3150926 | OMIM | 0 | | 129 | 6345 | 600599 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | KLF1 CL E G H | 10661 | 613673 | Congenital dyserythropoietic anemia, type IV | 613673 | C3150926 | OMIM | 0 | | 129 | 6345 | 600599 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | KRAS CL E G H | 3845 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 0 | | 480 | 6407 | 190070 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | KRAS CL E G H | 3845 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 0 | | 480 | 6407 | 190070 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | KRAS CL E G H | 3845 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 0 | | 480 | 6407 | 190070 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | LIMK1 CL E G H | 3984 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 232 | 6613 | 601329 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | LIMK1 CL E G H | 3984 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 232 | 6613 | 601329 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | LIMK1 CL E G H | 3984 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 232 | 6613 | 601329 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | LMNA CL E G H | 4000 | 98853 | | | | ORPHA | 0 | | 1814 | 6636 | 150330 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | LMNA CL E G H | 4000 | 2348 | | | | ORPHA | 0 | | 1814 | 6636 | 150330 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | LMNA CL E G H | 4000 | 280365 | | | | ORPHA | 0 | | 1814 | 6636 | 150330 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | LMNA CL E G H | 4000 | 98853 | | | | ORPHA | 0 | | 1814 | 6636 | 150330 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | LMNA CL E G H | 4000 | 2348 | | | | ORPHA | 0 | | 1814 | 6636 | 150330 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | LMNA CL E G H | 4000 | 280365 | | | | ORPHA | 0 | | 1814 | 6636 | 150330 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | LMNA CL E G H | 4000 | 98853 | | | | ORPHA | 0 | | 1814 | 6636 | 150330 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | LMNA CL E G H | 4000 | 2348 | | | | ORPHA | 0 | | 1814 | 6636 | 150330 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | LMNA CL E G H | 4000 | 280365 | | | | ORPHA | 0 | | 1814 | 6636 | 150330 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | MAD2L2 CL E G H | 10459 | 84 | | | | ORPHA | 0 | | 121 | 6764 | 604094 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | MAD2L2 CL E G H | 10459 | 84 | | | | ORPHA | 0 | | 121 | 6764 | 604094 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | MAD2L2 CL E G H | 10459 | 84 | | | | ORPHA | 0 | | 121 | 6764 | 604094 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | MAP2K1 CL E G H | 5604 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 0 | | 493 | 6840 | 176872 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | MAP2K1 CL E G H | 5604 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 0 | | 493 | 6840 | 176872 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | MAP2K1 CL E G H | 5604 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 0 | | 493 | 6840 | 176872 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | MAP2K2 CL E G H | 5605 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 0 | | 720 | 6842 | 601263 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | MAP2K2 CL E G H | 5605 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 0 | | 720 | 6842 | 601263 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | MAP2K2 CL E G H | 5605 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 0 | | 720 | 6842 | 601263 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | MT-CO1 CL E G H | 4512 | 550 | | | | ORPHA | 0 | | | 7419 | 516030 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | MT-CO1 CL E G H | 4512 | 550 | | | | ORPHA | 0 | | | 7419 | 516030 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | MT-CO1 CL E G H | 4512 | 550 | | | | ORPHA | 0 | | | 7419 | 516030 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | MT-CO2 CL E G H | 4513 | 550 | | | | ORPHA | 0 | | | 7421 | 516040 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | MT-CO2 CL E G H | 4513 | 550 | | | | ORPHA | 0 | | | 7421 | 516040 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | MT-CO2 CL E G H | 4513 | 550 | | | | ORPHA | 0 | | | 7421 | 516040 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | MT-CO3 CL E G H | 4514 | 550 | | | | ORPHA | 0 | | | 7422 | 516050 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | MT-CO3 CL E G H | 4514 | 550 | | | | ORPHA | 0 | | | 7422 | 516050 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | MT-CO3 CL E G H | 4514 | 550 | | | | ORPHA | 0 | | | 7422 | 516050 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | MT-ND1 CL E G H | 4535 | 550 | | | | ORPHA | 0 | | | 7455 | 516000 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | MT-ND1 CL E G H | 4535 | 550 | | | | ORPHA | 0 | | | 7455 | 516000 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | MT-ND1 CL E G H | 4535 | 550 | | | | ORPHA | 0 | | | 7455 | 516000 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | MT-ND4 CL E G H | 4538 | 550 | | | | ORPHA | 0 | | | 7459 | 516003 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | MT-ND4 CL E G H | 4538 | 550 | | | | ORPHA | 0 | | | 7459 | 516003 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | MT-ND4 CL E G H | 4538 | 550 | | | | ORPHA | 0 | | | 7459 | 516003 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | MT-ND5 CL E G H | 4540 | 550 | | | | ORPHA | 0 | | | 7461 | 516005 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | MT-ND5 CL E G H | 4540 | 550 | | | | ORPHA | 0 | | | 7461 | 516005 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | MT-ND5 CL E G H | 4540 | 550 | | | | ORPHA | 0 | | | 7461 | 516005 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | MT-ND6 CL E G H | 4541 | 550 | | | | ORPHA | 0 | | | 7462 | 516006 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | MT-ND6 CL E G H | 4541 | 550 | | | | ORPHA | 0 | | | 7462 | 516006 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | MT-ND6 CL E G H | 4541 | 550 | | | | ORPHA | 0 | | | 7462 | 516006 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | MT-TF CL E G H | 4558 | 550 | | | | ORPHA | 0 | | | 7481 | 590070 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | MT-TF CL E G H | 4558 | 550 | | | | ORPHA | 0 | | | 7481 | 590070 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | MT-TF CL E G H | 4558 | 550 | | | | ORPHA | 0 | | | 7481 | 590070 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | MT-TH CL E G H | 4564 | 550 | | | | ORPHA | 0 | | | 7487 | 590040 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | MT-TH CL E G H | 4564 | 550 | | | | ORPHA | 0 | | | 7487 | 590040 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | MT-TH CL E G H | 4564 | 550 | | | | ORPHA | 0 | | | 7487 | 590040 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | MT-TL1 CL E G H | 4567 | 550 | | | | ORPHA | 0 | | | 7490 | 590050 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | MT-TL1 CL E G H | 4567 | 550 | | | | ORPHA | 0 | | | 7490 | 590050 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | MT-TL1 CL E G H | 4567 | 550 | | | | ORPHA | 0 | | | 7490 | 590050 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | MT-TQ CL E G H | 4572 | 550 | | | | ORPHA | 0 | | | 7495 | 590030 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | MT-TQ CL E G H | 4572 | 550 | | | | ORPHA | 0 | | | 7495 | 590030 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | MT-TQ CL E G H | 4572 | 550 | | | | ORPHA | 0 | | | 7495 | 590030 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | MT-TS1 CL E G H | 4574 | 550 | | | | ORPHA | 0 | | | 7497 | 590080 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | MT-TS1 CL E G H | 4574 | 550 | | | | ORPHA | 0 | | | 7497 | 590080 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | MT-TS1 CL E G H | 4574 | 550 | | | | ORPHA | 0 | | | 7497 | 590080 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | MT-TS2 CL E G H | 4575 | 550 | | | | ORPHA | 0 | | | 7498 | 590085 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | MT-TS2 CL E G H | 4575 | 550 | | | | ORPHA | 0 | | | 7498 | 590085 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | MT-TS2 CL E G H | 4575 | 550 | | | | ORPHA | 0 | | | 7498 | 590085 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | MT-TW CL E G H | 4578 | 550 | | | | ORPHA | 0 | | | 7501 | 590095 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | MT-TW CL E G H | 4578 | 550 | | | | ORPHA | 0 | | | 7501 | 590095 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | MT-TW CL E G H | 4578 | 550 | | | | ORPHA | 0 | | | 7501 | 590095 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | MYPN CL E G H | 84665 | 615248 | Dilated cardiomyopathy 1KK | 615248 | C3714995 | OMIM | 0 | | 1485 | 23246 | 608517 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | MYPN CL E G H | 84665 | 615248 | Dilated cardiomyopathy 1KK | 615248 | C3714995 | OMIM | 0 | | 1485 | 23246 | 608517 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | MYPN CL E G H | 84665 | 615248 | Dilated cardiomyopathy 1KK | 615248 | C3714995 | OMIM | 0 | | 1485 | 23246 | 608517 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | NAGA CL E G H | 4668 | 79279 | | | | ORPHA | 0 | | 230 | 7631 | 104170 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | NAGA CL E G H | 4668 | 79279 | | | | ORPHA | 0 | | 230 | 7631 | 104170 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | NAGA CL E G H | 4668 | 79279 | | | | ORPHA | 0 | | 230 | 7631 | 104170 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | NRAS CL E G H | 4893 | 613224 | Noonan syndrome 6 | 613224 | C2750732 | OMIM | 0 | | 281 | 7989 | 164790 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | NRAS CL E G H | 4893 | 613224 | Noonan syndrome 6 | 613224 | C2750732 | OMIM | 0 | | 281 | 7989 | 164790 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | NRAS CL E G H | 4893 | 613224 | Noonan syndrome 6 | 613224 | C2750732 | OMIM | 0 | | 281 | 7989 | 164790 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | PALB2 CL E G H | 79728 | 84 | | | | ORPHA | 0 | | 5225 | 26144 | 610355 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | PALB2 CL E G H | 79728 | 84 | | | | ORPHA | 0 | | 5225 | 26144 | 610355 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | PALB2 CL E G H | 79728 | 84 | | | | ORPHA | 0 | | 5225 | 26144 | 610355 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | PPA2 CL E G H | 27068 | 617222 | Sudden cardiac failure, infantile | 617222 | C4310664 | OMIM | 0 | | 337 | 28883 | 609988 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | PPA2 CL E G H | 27068 | 617222 | Sudden cardiac failure, infantile | 617222 | C4310664 | OMIM | 0 | | 337 | 28883 | 609988 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | PPA2 CL E G H | 27068 | 617222 | Sudden cardiac failure, infantile | 617222 | C4310664 | OMIM | 0 | | 337 | 28883 | 609988 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | PPARG CL E G H | 5468 | 79083 | | | | ORPHA | 0 | | 166 | 9236 | 601487 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | PPARG CL E G H | 5468 | 79083 | | | | ORPHA | 0 | | 166 | 9236 | 601487 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | PPARG CL E G H | 5468 | 79083 | | | | ORPHA | 0 | | 166 | 9236 | 601487 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | PTPN11 CL E G H | 5781 | 151100 | LEOPARD syndrome 1 | 151100 | CN074218 | OMIM | 0 | | 854 | 9644 | 176876 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | PTPN11 CL E G H | 5781 | 151100 | LEOPARD syndrome 1 | 151100 | CN074218 | OMIM | 0 | | 854 | 9644 | 176876 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | PTPN11 CL E G H | 5781 | 151100 | LEOPARD syndrome 1 | 151100 | CN074218 | OMIM | 0 | | 854 | 9644 | 176876 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | RAD51 CL E G H | 5888 | 84 | | | | ORPHA | 0 | | 358 | 9817 | 179617 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | RAD51 CL E G H | 5888 | 84 | | | | ORPHA | 0 | | 358 | 9817 | 179617 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | RAD51 CL E G H | 5888 | 84 | | | | ORPHA | 0 | | 358 | 9817 | 179617 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | RAD51C CL E G H | 5889 | 84 | | | | ORPHA | 0 | | 1827 | 9820 | 602774 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | RAD51C CL E G H | 5889 | 84 | | | | ORPHA | 0 | | 1827 | 9820 | 602774 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | RAD51C CL E G H | 5889 | 84 | | | | ORPHA | 0 | | 1827 | 9820 | 602774 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | RAF1 CL E G H | 5894 | 611553 | Noonan syndrome 5 | 611553 | C1969057 | OMIM | 0 | | 990 | 9829 | 164760 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | RAF1 CL E G H | 5894 | 611553 | Noonan syndrome 5 | 611553 | C1969057 | OMIM | 0 | | 990 | 9829 | 164760 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | RAF1 CL E G H | 5894 | 611553 | Noonan syndrome 5 | 611553 | C1969057 | OMIM | 0 | | 990 | 9829 | 164760 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | RFC2 CL E G H | 5982 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 200 | 9970 | 600404 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | RFC2 CL E G H | 5982 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 200 | 9970 | 600404 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | RFC2 CL E G H | 5982 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 200 | 9970 | 600404 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | RFWD3 CL E G H | 55159 | 84 | | | | ORPHA | 0 | | 326 | 25539 | 614151 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | RFWD3 CL E G H | 55159 | 84 | | | | ORPHA | 0 | | 326 | 25539 | 614151 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | RFWD3 CL E G H | 55159 | 84 | | | | ORPHA | 0 | | 326 | 25539 | 614151 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | RNASEH2A CL E G H | 10535 | 51 | | | | ORPHA | 0 | | 404 | 18518 | 606034 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | RNASEH2A CL E G H | 10535 | 51 | | | | ORPHA | 0 | | 404 | 18518 | 606034 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | RNASEH2A CL E G H | 10535 | 51 | | | | ORPHA | 0 | | 404 | 18518 | 606034 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | RNASEH2B CL E G H | 79621 | 51 | | | | ORPHA | 0 | | 426 | 25671 | 610326 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | RNASEH2B CL E G H | 79621 | 51 | | | | ORPHA | 0 | | 426 | 25671 | 610326 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | RNASEH2B CL E G H | 79621 | 51 | | | | ORPHA | 0 | | 426 | 25671 | 610326 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | RNASEH2C CL E G H | 84153 | 51 | | | | ORPHA | 0 | | 307 | 24116 | 610330 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | RNASEH2C CL E G H | 84153 | 51 | | | | ORPHA | 0 | | 307 | 24116 | 610330 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | RNASEH2C CL E G H | 84153 | 51 | | | | ORPHA | 0 | | 307 | 24116 | 610330 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | SAMHD1 CL E G H | 25939 | 51 | | | | ORPHA | 0 | | 746 | 15925 | 606754 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | SAMHD1 CL E G H | 25939 | 51 | | | | ORPHA | 0 | | 746 | 15925 | 606754 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | SAMHD1 CL E G H | 25939 | 51 | | | | ORPHA | 0 | | 746 | 15925 | 606754 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | SLC25A4 CL E G H | 291 | 617184 | Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant | 617184 | C4310676 | OMIM | 0 | | 333 | 10990 | 103220 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | SLC25A4 CL E G H | 291 | 617184 | Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant | 617184 | C4310676 | OMIM | 0 | | 333 | 10990 | 103220 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | SLC25A4 CL E G H | 291 | 617184 | Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant | 617184 | C4310676 | OMIM | 0 | | 333 | 10990 | 103220 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | SLC2A10 CL E G H | 81031 | 3342 | | | | ORPHA | 0 | | 571 | 13444 | 606145 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | SLC2A10 CL E G H | 81031 | 3342 | | | | ORPHA | 0 | | 571 | 13444 | 606145 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | SLC2A10 CL E G H | 81031 | 3342 | | | | ORPHA | 0 | | 571 | 13444 | 606145 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | SLC30A10 CL E G H | 55532 | 309854 | | | | ORPHA | 0 | | 275 | 25355 | 611146 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | SLC30A10 CL E G H | 55532 | 309854 | | | | ORPHA | 0 | | 275 | 25355 | 611146 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | SLC30A10 CL E G H | 55532 | 309854 | | | | ORPHA | 0 | | 275 | 25355 | 611146 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | SLX4 CL E G H | 84464 | 84 | | | | ORPHA | 0 | | 1968 | 23845 | 613278 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | SLX4 CL E G H | 84464 | 84 | | | | ORPHA | 0 | | 1968 | 23845 | 613278 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | SLX4 CL E G H | 84464 | 84 | | | | ORPHA | 0 | | 1968 | 23845 | 613278 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | SMC1A CL E G H | 8243 | 300590 | Congenital muscular hypertrophy-cerebral syndrome | 300590 | C1802395 | OMIM | 0 | | 939 | 11111 | 300040 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | SMC1A CL E G H | 8243 | 300590 | Congenital muscular hypertrophy-cerebral syndrome | 300590 | C1802395 | OMIM | 0 | | 939 | 11111 | 300040 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | SMC1A CL E G H | 8243 | 300590 | Congenital muscular hypertrophy-cerebral syndrome | 300590 | C1802395 | OMIM | 0 | | 939 | 11111 | 300040 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | SYNE1 CL E G H | 23345 | 98853 | | | | ORPHA | 0 | | 5789 | 17089 | 608441 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | SYNE1 CL E G H | 23345 | 98853 | | | | ORPHA | 0 | | 5789 | 17089 | 608441 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | SYNE1 CL E G H | 23345 | 98853 | | | | ORPHA | 0 | | 5789 | 17089 | 608441 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | SYNE2 CL E G H | 23224 | 98853 | | | | ORPHA | 0 | | 3314 | 17084 | 608442 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | SYNE2 CL E G H | 23224 | 98853 | | | | ORPHA | 0 | | 3314 | 17084 | 608442 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | SYNE2 CL E G H | 23224 | 98853 | | | | ORPHA | 0 | | 3314 | 17084 | 608442 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | TANGO2 CL E G H | 128989 | 616878 | TANGO2-Related Metabolic Encephalopathy and Arrhythmias | 616878 | C4225171 | OMIM | 0 | | 715 | 25439 | 616830 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | TANGO2 CL E G H | 128989 | 616878 | TANGO2-Related Metabolic Encephalopathy and Arrhythmias | 616878 | C4225171 | OMIM | 0 | | 715 | 25439 | 616830 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | TANGO2 CL E G H | 128989 | 616878 | TANGO2-Related Metabolic Encephalopathy and Arrhythmias | 616878 | C4225171 | OMIM | 0 | | 715 | 25439 | 616830 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | TBL2 CL E G H | 26608 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 194 | 11586 | 605842 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | TBL2 CL E G H | 26608 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 194 | 11586 | 605842 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | TBL2 CL E G H | 26608 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 194 | 11586 | 605842 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | TGFB1 CL E G H | 7040 | 1328 | Chromosome 15 ring | | CN035931 | ORPHA | 0 | | 286 | 11766 | 190180 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | TGFB1 CL E G H | 7040 | 1328 | Chromosome 15 ring | | CN035931 | ORPHA | 0 | | 286 | 11766 | 190180 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | TGFB1 CL E G H | 7040 | 1328 | Chromosome 15 ring | | CN035931 | ORPHA | 0 | | 286 | 11766 | 190180 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | TMEM126A CL E G H | 84233 | 612989 | Optic atrophy 7 | 612989 | C2751812 | OMIM | 0 | | 185 | 25382 | 612988 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | TMEM126A CL E G H | 84233 | 612989 | Optic atrophy 7 | 612989 | C2751812 | OMIM | 0 | | 185 | 25382 | 612988 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | TMEM126A CL E G H | 84233 | 612989 | Optic atrophy 7 | 612989 | C2751812 | OMIM | 0 | | 185 | 25382 | 612988 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | TMEM43 CL E G H | 79188 | 98853 | | | | ORPHA | 0 | | 825 | 28472 | 612048 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | TMEM43 CL E G H | 79188 | 98853 | | | | ORPHA | 0 | | 825 | 28472 | 612048 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | TMEM43 CL E G H | 79188 | 98853 | | | | ORPHA | 0 | | 825 | 28472 | 612048 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | TPI1 CL E G H | 7167 | 868 | | | | ORPHA | 0 | | 181 | 12009 | 190450 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | TPI1 CL E G H | 7167 | 868 | | | | ORPHA | 0 | | 181 | 12009 | 190450 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | TPI1 CL E G H | 7167 | 868 | | | | ORPHA | 0 | | 181 | 12009 | 190450 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | TREX1 CL E G H | 11277 | 51 | | | | ORPHA | 0 | | 418 | 12269 | 606609 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | TREX1 CL E G H | 11277 | 51 | | | | ORPHA | 0 | | 418 | 12269 | 606609 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | TREX1 CL E G H | 11277 | 51 | | | | ORPHA | 0 | | 418 | 12269 | 606609 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | TTPA CL E G H | 7274 | 96 | | | | ORPHA | 0 | | 389 | 12404 | 600415 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | TTPA CL E G H | 7274 | 96 | | | | ORPHA | 0 | | 389 | 12404 | 600415 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | TTPA CL E G H | 7274 | 96 | | | | ORPHA | 0 | | 389 | 12404 | 600415 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | UBE2T CL E G H | 29089 | 84 | | | | ORPHA | 0 | | 45 | 25009 | 610538 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | UBE2T CL E G H | 29089 | 84 | | | | ORPHA | 0 | | 45 | 25009 | 610538 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | UBE2T CL E G H | 29089 | 84 | | | | ORPHA | 0 | | 45 | 25009 | 610538 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | VPS13A CL E G H | 23230 | 2388 | | | | ORPHA | 0 | | 2362 | 1908 | 605978 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | VPS13A CL E G H | 23230 | 2388 | | | | ORPHA | 0 | | 2362 | 1908 | 605978 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | VPS13A CL E G H | 23230 | 2388 | | | | ORPHA | 0 | | 2362 | 1908 | 605978 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | XRCC2 CL E G H | 7516 | 84 | | | | ORPHA | 0 | | 697 | 12829 | 600375 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | XRCC2 CL E G H | 7516 | 84 | | | | ORPHA | 0 | | 697 | 12829 | 600375 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | XRCC2 CL E G H | 7516 | 84 | | | | ORPHA | 0 | | 697 | 12829 | 600375 |
HP:0001639 | HP:0001670 | Asymmetric septal hypertrophy | 1 | YARS2 CL E G H | 51067 | 613561 | Myopathy, lactic acidosis, and sideroblastic anemia 2 | 613561 | C3150802 | OMIM | 0 | | 274 | 24249 | 610957 |
HP:0001639 | HP:0031992 | Apical hypertrophic cardiomyopathy | 1 | YARS2 CL E G H | 51067 | 613561 | Myopathy, lactic acidosis, and sideroblastic anemia 2 | 613561 | C3150802 | OMIM | 0 | | 274 | 24249 | 610957 |
HP:0001639 | HP:0005157 | Concentric hypertrophic cardiomyopathy | 1 | YARS2 CL E G H | 51067 | 613561 | Myopathy, lactic acidosis, and sideroblastic anemia 2 | 613561 | C3150802 | OMIM | 0 | | 274 | 24249 | 610957 |