Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | AARS2 CL E G H | 57505 | 21022 | OMIM:614096 | Combined oxidative phosphorylation deficiency 8 | | | | 143 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | ABCC6 CL E G H | 368 | 57 | OMIM:614473 | Arterial calcification, generalized, of infancy, 2 | . | | | 415 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | ABCC6 CL E G H | 368 | 57 | OMIM:264800 | PSEUDOXANTHOMA ELASTICUM; PXE | | | | 415 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | ABCC9 CL E G H | 10060 | 60 | OMIM:608569 | CARDIOMYOPATHY, DILATED, 1O; CMD1O | | | | 254 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | ACAD9 CL E G H | 28976 | 21497 | ORPHA:99901 | Acyl-CoA dehydrogenase 9 deficiency | HP:0040282 - Frequent | | | 98 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | ACAD9 CL E G H | 28976 | 21497 | OMIM:611126 | Mitochondrial complex I deficiency due to acad9 deficiency | . | | | 98 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | ACTC1 CL E G H | 70 | 143 | ORPHA:99103 | Atrial septal defect, ostium secundum type | HP:0040283 - Occasional | | | 208 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | ACTC1 CL E G H | 70 | 143 | OMIM:613424 | Cardiomyopathy, dilated, 1R | . | | | 208 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | ACTC1 CL E G H | 70 | 143 | OMIM:612098 | Cardiomyopathy, familial hypertrophic, 11 | | | | 208 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | ACTN2 CL E G H | 88 | 164 | OMIM:618654 | MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ | | | | 307 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | ACVRL1 CL E G H | 94 | 175 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | HP:0040283 - Occasional | | | 178 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | ADAMTSL2 CL E G H | 9719 | 14631 | OMIM:231050 | Geleophysic dysplasia 1 | . | | | 72 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | ADCY5 CL E G H | 111 | 236 | OMIM:606703 | Dyskinesia, familial, with facial myokymia | HP:0040283 - Occasional | | | 25 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | ADCY5 CL E G H | 111 | 236 | ORPHA:324588 | Familial dyskinesia and facial myokymia | HP:0040283 - Occasional | | | 25 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | AFF4 CL E G H | 27125 | 17869 | ORPHA:444077 | Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | AGGF1 CL E G H | 55109 | 24684 | ORPHA:90308 | Klippel-Trénaunay syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | AGPAT2 CL E G H | 10555 | 325 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040283 - Occasional | | | 85 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:90348 | Autosomal dominant cutis laxa | | | | 89 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | ALMS1 CL E G H | 7840 | 428 | ORPHA:64 | Alström syndrome | HP:0040283 - Occasional | | | 404 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | ALMS1 CL E G H | 7840 | 428 | OMIM:203800 | Alstrom syndrome | . | | | 404 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | ALPK3 CL E G H | 57538 | 17574 | OMIM:618052 | Cardiomyopathy, familial hypertrophic 27 | | | | 89 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | ATP5F1A CL E G H | 498 | 823 | OMIM:616045 | Combined oxidative phosphorylation deficiency 22 | . | | | | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | ATP6V1A CL E G H | 523 | 851 | OMIM:617403 | Cutis laxa, autosomal recessive, type IID | . | | | 3 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | ATXN7 CL E G H | 6314 | 10560 | ORPHA:94147 | Spinocerebellar ataxia type 7 | HP:0040282 - Frequent | | | 8 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | BAG3 CL E G H | 9531 | 939 | OMIM:613881 | Cardiomyopathy, dilated, 1hh | . | | | 204 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | BAG5 CL E G H | 9529 | 941 | OMIM:619747 | CARDIOMYOPATHY, DILATED, 2F; CMD2F | | | | | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | BCHE CL E G H | 590 | 983 | ORPHA:132 | Butyrylcholinesterase deficiency | HP:0040284 - Very rare | | | 67 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | BMP2 CL E G H | 650 | 1069 | OMIM:235200 | Hemochromatosis, type 1 | . | | | 13 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | BMP6 CL E G H | 654 | 1073 | ORPHA:465508 | Symptomatic form of hemochromatosis type 1 | HP:0040283 - Occasional | | | | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | BSCL2 CL E G H | 26580 | 15832 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040283 - Occasional | | | 105 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | CACNA1S CL E G H | 779 | 1397 | ORPHA:423 | Malignant hyperthermia of anesthesia | | | | 247 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | CASR CL E G H | 846 | 1514 | ORPHA:428 | Autosomal dominant hypocalcemia | HP:0040283 - Occasional | | | 272 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | CAV1 CL E G H | 857 | 1527 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040283 - Occasional | | | 11 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | CAV1 CL E G H | 857 | 1527 | ORPHA:220393 | Diffuse cutaneous systemic sclerosis | HP:0040283 - Occasional | | | 11 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | CAV3 CL E G H | 859 | 1529 | OMIM:192600 | Cardiomyopathy, familial hypertrophic 1 | . | | | 148 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | CAVIN1 CL E G H | 284119 | 9688 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040283 - Occasional | | | 48 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | CCN2 CL E G H | 1490 | 2500 | ORPHA:220393 | Diffuse cutaneous systemic sclerosis | HP:0040283 - Occasional | | | | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | CCR6 CL E G H | 1235 | 1607 | ORPHA:220393 | Diffuse cutaneous systemic sclerosis | HP:0040283 - Occasional | | | | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:91347 | TSH-secreting pituitary adenoma | HP:0040283 - Occasional | | | 636 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | CEP19 CL E G H | 84984 | 28209 | OMIM:615703 | Morbid obesity and spermatogenic failure | . | | | 1 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | CITED2 CL E G H | 10370 | 1987 | ORPHA:99103 | Atrial septal defect, ostium secundum type | HP:0040283 - Occasional | | | 5 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | CITED2 CL E G H | 10370 | 1987 | ORPHA:99105 | Atrial septal defect, sinus venosus type | HP:0040284 - Very rare | | | 5 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | CLIC2 CL E G H | 1193 | 2063 | OMIM:300886 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS32 | | | | 4 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | CLIC2 CL E G H | 1193 | 2063 | ORPHA:324410 | X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | CLPB CL E G H | 81570 | 30664 | OMIM:616271 | 3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia | | | | 38 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | COG7 CL E G H | 91949 | 18622 | OMIM:608779 | Congenital disorder of glycosylation, type IIe | . | | | 64 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | COL1A1 CL E G H | 1277 | 2197 | OMIM:166210 | Osteogenesis imperfecta, type IIA | . | | | 373 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | COL1A2 CL E G H | 1278 | 2198 | OMIM:166210 | Osteogenesis imperfecta, type IIA | . | | | 243 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | COX1 CL E G H | 4512 | 7419 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | COX16 CL E G H | 51241 | 20213 | OMIM:619355 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22 | | | | | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | COX2 CL E G H | 4513 | 7421 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | COX3 CL E G H | 4514 | 7422 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | CP CL E G H | 1356 | 2295 | ORPHA:48818 | Aceruloplasminemia | HP:0040283 - Occasional | | | 115 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | CSRP3 CL E G H | 8048 | 2472 | OMIM:607482 | CARDIOMYOPATHY, DILATED, 1M; CMD1M | | | | 104 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | CYTB CL E G H | 4519 | 7427 | ORPHA:137675 | Histiocytoid cardiomyopathy | HP:0040283 - Occasional | | | | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | CYTB CL E G H | 4519 | 7427 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | DES CL E G H | 1674 | 2770 | OMIM:604765 | CARDIOMYOPATHY, DILATED, 1I; CMD1I | | | | 263 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | DES CL E G H | 1674 | 2770 | ORPHA:98909 | Desminopathy | HP:0040282 - Frequent | | | 263 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | DLST CL E G H | 1743 | 2911 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | DMD CL E G H | 1756 | 2928 | OMIM:310200 | Duchenne muscular dystrophy | . | | | 1496 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | DMD CL E G H | 1756 | 2928 | ORPHA:206546 | Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers | | | | 1496 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | DNAJC19 CL E G H | 131118 | 30528 | OMIM:610198 | 3-@methylglutaconic aciduria, type V | . | | | 25 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | DNMT3A CL E G H | 1788 | 2978 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040283 - Occasional | | | 44 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | DOHH CL E G H | 83475 | 28662 | OMIM:620066 | | | | | | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | DOLK CL E G H | 22845 | 23406 | ORPHA:91131 | DK1-CDG | | | | 55 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | DSG2 CL E G H | 1829 | 3049 | OMIM:612877 | CARDIOMYOPATHY, DILATED, 1BB; CMD1BB | | | | 358 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | DSP CL E G H | 1832 | 3052 | OMIM:607450 | Arrhythmogenic right ventricular dysplasia, familial, 8 | . | | | 747 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | DSP CL E G H | 1832 | 3052 | OMIM:605676 | Cardiomyopathy, dilated, with woolly hair and keratoderma | | | | 747 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | DSP CL E G H | 1832 | 3052 | ORPHA:65282 | Carvajal syndrome | HP:0040283 - Occasional | | | 747 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | DTNA CL E G H | 1837 | 3057 | OMIM:604169 | Left ventricular noncompaction 1 | . | | | 163 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | EFEMP2 CL E G H | 30008 | 3219 | ORPHA:90349 | Autosomal recessive cutis laxa type 1 | HP:0040282 - Frequent | | | 45 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | ELAC2 CL E G H | 60528 | 14198 | OMIM:615440 | Combined oxidative phosphorylation deficiency 17 | . | | | 67 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:90348 | Autosomal dominant cutis laxa | | | | 172 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | ELN CL E G H | 2006 | 3327 | OMIM:123700 | Cutis laxa, autosomal dominant 1 | | | | 172 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 172 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | ENG CL E G H | 2022 | 3349 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | HP:0040283 - Occasional | | | 186 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | ENG CL E G H | 2022 | 3349 | OMIM:187300 | Telangiectasia, hereditary hemorrhagic, type 1 | | | | 186 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | ENPP1 CL E G H | 5167 | 3356 | OMIM:208000 | Arterial calcification, generalized, of infancy, 1 | . | | | 151 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | EPAS1 CL E G H | 2034 | 3374 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040283 - Occasional | | | 112 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | . | | | 40 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | EPHB4 CL E G H | 2050 | 3395 | ORPHA:137667 | Capillary malformation-arteriovenous malformation | HP:0040284 - Very rare | | | 3 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | EYA4 CL E G H | 2070 | 3522 | OMIM:605362 | Cardiomyopathy, dilated, 1J | | | | 111 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | EYA4 CL E G H | 2070 | 3522 | ORPHA:217622 | Sensorineural deafness with dilated cardiomyopathy | HP:0040281 - Very frequent | | | 111 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | FBLN5 CL E G H | 10516 | 3602 | ORPHA:90348 | Autosomal dominant cutis laxa | | | | 63 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | FBLN5 CL E G H | 10516 | 3602 | ORPHA:90349 | Autosomal recessive cutis laxa type 1 | HP:0040282 - Frequent | | | 63 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:154700 | Marfan syndrome | . | | | 1361 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:608328 | Weill-Marchesani syndrome 2, dominant | | | | 1361 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | FGD1 CL E G H | 2245 | 3663 | ORPHA:915 | Aarskog-Scott syndrome | HP:0040283 - Occasional | | | 62 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:616482 | Achondroplasia, severe, with developmental delay and acanthosis nigricans | HP:0040283 - Occasional | | | 145 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | FH CL E G H | 2271 | 3700 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 301 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:314400 | Cardiac valvular dysplasia, X-linked | . | | | 493 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | FLNC CL E G H | 2318 | 3756 | OMIM:617047 | Cardiomyopathy, familial hypertrophic, 26 | . | | | 197 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | FOS CL E G H | 2353 | 3796 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040283 - Occasional | | | | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | FXN CL E G H | 2395 | 3951 | OMIM:229300 | Friedreich ataxia 1 | . | | | 18 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | GAA CL E G H | 2548 | 4065 | ORPHA:308552 | Glycogen storage disease due to acid maltase deficiency, infantile onset | | | | 407 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | GATA4 CL E G H | 2626 | 4173 | ORPHA:99103 | Atrial septal defect, ostium secundum type | HP:0040283 - Occasional | | | 87 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | GATA6 CL E G H | 2627 | 4174 | ORPHA:99103 | Atrial septal defect, ostium secundum type | HP:0040283 - Occasional | | | 37 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | GATAD1 CL E G H | 57798 | 29941 | OMIM:614672 | Cardiomyopathy, dilated, 2B | . | | | 35 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | GDF2 CL E G H | 2658 | 4217 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | HP:0040283 - Occasional | | | 8 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:600309 | Atrioventricular septal defect 3 | . | | | 68 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | GLA CL E G H | 2717 | 4296 | OMIM:301500 | Fabry disease | . | | | 291 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | GLA CL E G H | 2717 | 4296 | ORPHA:324 | Fabry disease | HP:0040281 - Very frequent | | | 291 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | GLB1 CL E G H | 2720 | 4298 | OMIM:230500 | GM1-gangliosidosis, type I | . | | | 120 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | GNA11 CL E G H | 2767 | 4379 | ORPHA:428 | Autosomal dominant hypocalcemia | HP:0040283 - Occasional | | | 16 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | . | | | 240 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | GPR35 CL E G H | 2859 | 4492 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040283 - Occasional | | | 2 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | GTPBP3 CL E G H | 84705 | 14880 | ORPHA:444013 | Combined oxidative phosphorylation defect type 23 | HP:0040283 - Occasional | | | 30 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | GTPBP3 CL E G H | 84705 | 14880 | OMIM:616198 | Combined oxidative phosphorylation deficiency 23 | . | | | 30 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | HADHA CL E G H | 3030 | 4801 | ORPHA:746 | Mitochondrial trifunctional protein deficiency | HP:0040282 - Frequent | | | 99 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | HADHA CL E G H | 3030 | 4801 | OMIM:609015 | Mitochondrial trifunctional protein deficiency | . | | | 99 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | HADHB CL E G H | 3032 | 4803 | ORPHA:746 | Mitochondrial trifunctional protein deficiency | HP:0040282 - Frequent | | | 60 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | HADHB CL E G H | 3032 | 4803 | OMIM:609015 | Mitochondrial trifunctional protein deficiency | . | | | 60 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | HAMP CL E G H | 57817 | 15598 | OMIM:613313 | Hemochromatosis, type 2B | . | | | 15 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | HBA1 CL E G H | 3039 | 4823 | ORPHA:163596 | Hb Bart's hydrops fetalis | HP:0040281 - Very frequent | | | 200 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | HBA2 CL E G H | 3040 | 4824 | ORPHA:163596 | Hb Bart's hydrops fetalis | HP:0040281 - Very frequent | | | 88 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:231222 | Beta-thalassemia intermedia | | | | 580 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:231214 | Beta-thalassemia major | | | | 580 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:231226 | Dominant beta-thalassemia | | | | 580 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | HFE CL E G H | 3077 | 4886 | OMIM:235200 | Hemochromatosis, type 1 | . | | | 38 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | HFE CL E G H | 3077 | 4886 | ORPHA:465508 | Symptomatic form of hemochromatosis type 1 | HP:0040283 - Occasional | | | 38 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | HJV CL E G H | 148738 | 4887 | OMIM:602390 | Hemochromatosis, type 2A | . | | | | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:220393 | Diffuse cutaneous systemic sclerosis | HP:0040283 - Occasional | | | 2 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | HNRNPA1 CL E G H | 3178 | 5031 | ORPHA:52430 | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | HP:0040283 - Occasional | | | 31 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | HNRNPA2B1 CL E G H | 3181 | 5033 | ORPHA:52430 | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | HP:0040283 - Occasional | | | 5 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | IDS CL E G H | 3423 | 5389 | OMIM:309900 | Mucopolysaccharidosis, type II | . | | | 86 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | IFIH1 CL E G H | 64135 | 18873 | OMIM:182250 | Singleton-Merten syndrome 1 | . | | | 28 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | IKBKG CL E G H | 8517 | 5961 | ORPHA:464 | Incontinentia pigmenti | HP:0040283 - Occasional | | | 52 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | IL6ST CL E G H | 3572 | 6021 | OMIM:619751 | STUVE-WIEDEMANN SYNDROME 2; STWS2 | | | | | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | IRF5 CL E G H | 3663 | 6120 | ORPHA:220393 | Diffuse cutaneous systemic sclerosis | HP:0040283 - Occasional | | | 4 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | JUP CL E G H | 3728 | 6207 | ORPHA:34217 | Naxos disease | HP:0040282 - Frequent | | | 222 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | JUP CL E G H | 3728 | 6207 | OMIM:601214 | Naxos disease | | | | 222 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | KCNJ5 CL E G H | 3762 | 6266 | OMIM:613485 | Long QT syndrome 13 | . | | | 128 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | KIF1B CL E G H | 23095 | 16636 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 202 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | KIF1B CL E G H | 23095 | 16636 | OMIM:171300 | PHEOCHROMOCYTOMA | . | | | 202 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | LDB3 CL E G H | 11155 | 15710 | OMIM:601493 | Cardiomyopathy, dilated, 1C, with or without left ventricular noncompaction | . | | | 286 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:79474 | Atypical Werner syndrome | HP:0040281 - Very frequent | | | 645 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:280365 | Autosomal semi-dominant severe lipodystrophic laminopathy | HP:0040283 - Occasional | | | 645 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:115200 | Cardiomyopathy, dilated, 1A | | | | 645 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:157973 | Congenital muscular dystrophy due to LMNA mutation | HP:0040283 - Occasional | | | 645 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:300751 | Familial dilated cardiomyopathy with conduction defect due to LMNA mutation | HP:0040283 - Occasional | | | 645 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:2348 | Familial partial lipodystrophy, Dunnigan type | HP:0040283 - Occasional | | | 645 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:176670 | Hutchinson-Gilford progeria syndrome | . | | | 645 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:363618 | LMNA-related cardiocutaneous progeria syndrome | HP:0040281 - Very frequent | | | 645 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | LRPPRC CL E G H | 10128 | 15714 | ORPHA:70472 | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | HP:0040283 - Occasional | | | 191 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | LTBP1 CL E G H | 4052 | 6714 | ORPHA:90349 | Autosomal recessive cutis laxa type 1 | HP:0040282 - Frequent | | | | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | MAPRE2 CL E G H | 10982 | 6891 | ORPHA:2505 | Multiple benign circumferential skin creases on limbs | HP:0040283 - Occasional | | | 4 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | MAX CL E G H | 4149 | 6913 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 84 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | MAX CL E G H | 4149 | 6913 | OMIM:171300 | PHEOCHROMOCYTOMA | . | | | 84 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | MDH2 CL E G H | 4191 | 6971 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 4 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | MECP2 CL E G H | 4204 | 6990 | ORPHA:3077 | X-linked intellectual disability-psychosis-macroorchidism syndrome | HP:0040282 - Frequent | | | 950 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | MST1 CL E G H | 4485 | 7380 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040283 - Occasional | | | 1 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | MTTP CL E G H | 4547 | 7467 | ORPHA:14 | Abetalipoproteinemia | HP:0040284 - Very rare | | | 81 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | MYBPC3 CL E G H | 4607 | 7551 | OMIM:115197 | Cardiomyopathy, familial hypertrophic, 4 | | | | 1143 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | MYBPC3 CL E G H | 4607 | 7551 | OMIM:615396 | Left ventricular noncompaction 10 | | | | 1143 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | MYD88 CL E G H | 4615 | 7562 | ORPHA:33226 | Waldenström macroglobulinemia | HP:0040283 - Occasional | | | 9 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | MYH6 CL E G H | 4624 | 7576 | ORPHA:99103 | Atrial septal defect, ostium secundum type | HP:0040283 - Occasional | | | 452 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | MYH6 CL E G H | 4624 | 7576 | OMIM:613252 | Cardiomyopathy, dilated, 1ee | | | | 452 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | MYH6 CL E G H | 4624 | 7576 | OMIM:192600 | Cardiomyopathy, familial hypertrophic 1 | . | | | 452 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | MYH6 CL E G H | 4624 | 7576 | OMIM:613251 | Cardiomyopathy, familial hypertrophic, 14 | | | | 452 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | MYH7 CL E G H | 4625 | 7577 | OMIM:613426 | Cardiomyopathy, dilated, 1S | . | | | 1269 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | MYH7 CL E G H | 4625 | 7577 | OMIM:192600 | Cardiomyopathy, familial hypertrophic 1 | . | | | 1269 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | MYH7 CL E G H | 4625 | 7577 | ORPHA:324604 | Classic multiminicore myopathy | HP:0040283 - Occasional | | | 1269 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | MYH7 CL E G H | 4625 | 7577 | ORPHA:1880 | Ebstein malformation of the tricuspid valve | HP:0040283 - Occasional | | | 1269 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | MYH7 CL E G H | 4625 | 7577 | OMIM:255160 | Myopathy, myosin storage, autosomal recessive | . | | | 1269 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | MYL3 CL E G H | 4634 | 7584 | OMIM:608751 | Cardiomyopathy, familial hypertrophic, 8 | HP:0040283 - Occasional | | | 95 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | MYLK2 CL E G H | 85366 | 16243 | OMIM:192600 | Cardiomyopathy, familial hypertrophic 1 | . | | | 124 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | MYPN CL E G H | 84665 | 23246 | OMIM:615248 | Cardiomyopathy, dilated, 1kk | HP:0040283 - Occasional | | | 217 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | MYSM1 CL E G H | 114803 | 29401 | ORPHA:508542 | Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome | HP:0040282 - Frequent | | | | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | ND1 CL E G H | 4535 | 7455 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | ND5 CL E G H | 4540 | 7461 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | ND6 CL E G H | 4541 | 7462 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | NDUFAF1 CL E G H | 51103 | 18828 | OMIM:618234 | Mitochondrial complex I deficiency, nuclear type 11 | . | | | 40 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | NDUFAF3 CL E G H | 25915 | 29918 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040282 - Frequent | | | 31 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | NDUFB11 CL E G H | 54539 | 20372 | OMIM:301021 | Mitochondrial complex I deficiency, nuclear type 30 | . | | | 3 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | NDUFB8 CL E G H | 4714 | 7703 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040282 - Frequent | | | | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040282 - Frequent | | | 65 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 1952 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | NKX2-5 CL E G H | 1482 | 2488 | ORPHA:99103 | Atrial septal defect, ostium secundum type | HP:0040283 - Occasional | | | 90 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | NKX2-5 CL E G H | 1482 | 2488 | ORPHA:871 | Familial progressive cardiac conduction defect | HP:0040282 - Frequent | | | 90 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | NPPA CL E G H | 4878 | 7939 | ORPHA:1344 | Atrial standstill | HP:0040283 - Occasional | | | 13 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | NSMCE2 CL E G H | 286053 | 26513 | OMIM:617253 | Seckel syndrome 10 | . | | | 2 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | PDE11A CL E G H | 50940 | 8773 | ORPHA:1359 | Carney complex | HP:0040283 - Occasional | | | 13 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | PEX7 CL E G H | 5191 | 8860 | OMIM:266500 | Refsum disease | . | | | 72 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | PHYH CL E G H | 5264 | 8940 | OMIM:266500 | Refsum disease | . | | | 45 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | PLN CL E G H | 5350 | 9080 | OMIM:609909 | Cardiomyopathy, dilated, 1P | . | | | 57 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | PLOD1 CL E G H | 5351 | 9081 | OMIM:225400 | Ehlers-Danlos syndrome, kyphoscoliotic type, 1 | . | | | 105 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | PLOD1 CL E G H | 5351 | 9081 | ORPHA:1900 | Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency | HP:0040284 - Very rare | | | 105 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | PNPLA2 CL E G H | 57104 | 30802 | ORPHA:98908 | Neutral lipid storage myopathy | HP:0040283 - Occasional | | | 65 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | PNPLA2 CL E G H | 57104 | 30802 | ORPHA:565612 | Triglyceride deposit cardiomyovasculopathy | | | | 65 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | PPA2 CL E G H | 27068 | 28883 | OMIM:617222 | Sudden cardiac failure, infantile | . | | | 8 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | PPARG CL E G H | 5468 | 9236 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040283 - Occasional | | | 42 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | PPARG CL E G H | 5468 | 9236 | ORPHA:79083 | PPARG-related familial partial lipodystrophy | HP:0040283 - Occasional | | | 42 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | PRDM16 CL E G H | 63976 | 14000 | OMIM:615373 | Left ventricular noncompaction 8 | . | | | 148 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | PRKAG2 CL E G H | 51422 | 9386 | OMIM:600858 | Cardiomyopathy, familial hypertrophic, 6 | | | | 235 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | PRKAG2 CL E G H | 51422 | 9386 | OMIM:261740 | Glycogen storage disease of heart, lethal congenital | . | | | 235 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1359 | Carney complex | HP:0040283 - Occasional | | | 134 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:160980 | Carney complex, type 1 | . | | | 134 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:615 | Familial atrial myxoma | HP:0040283 - Occasional | | | 134 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | PSEN1 CL E G H | 5663 | 9508 | OMIM:613694 | Cardiomyopathy, dilated, 1U | . | | | 241 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | PSEN2 CL E G H | 5664 | 9509 | OMIM:613697 | Cardiomyopathy, dilated, 1V | . | | | 59 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | PSMB8 CL E G H | 5696 | 9545 | OMIM:256040 | Proteasome-associated autoinflammatory syndrome 1 and digenic forms | . | | | 20 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:137608 | Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome | HP:0040283 - Occasional | | | 948 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | RAB3GAP2 CL E G H | 25782 | 17168 | OMIM:212720 | Martsolf syndrome 1 | . | | | 135 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | RAF1 CL E G H | 5894 | 9829 | OMIM:615916 | Cardiomyopathy, dilated, 1nn | | | | 212 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | RASA1 CL E G H | 5921 | 9871 | ORPHA:137667 | Capillary malformation-arteriovenous malformation | HP:0040284 - Very rare | | | 88 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | RASA1 CL E G H | 5921 | 9871 | ORPHA:90307 | Parkes Weber syndrome | | | | 88 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | RBCK1 CL E G H | 10616 | 15864 | OMIM:615895 | Polyglucosan body myopathy 1 with or without immunodeficiency | | | | 10 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | RET CL E G H | 5979 | 9967 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 572 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | RET CL E G H | 5979 | 9967 | OMIM:171300 | PHEOCHROMOCYTOMA | . | | | 572 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | RET CL E G H | 5979 | 9967 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040283 - Occasional | | | 572 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | RPS19 CL E G H | 6223 | 10402 | OMIM:105650 | Diamond-Blackfan anemia 1 | . | | | 42 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:423 | Malignant hyperthermia of anesthesia | | | | 1200 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | SCN1B CL E G H | 6324 | 10586 | ORPHA:871 | Familial progressive cardiac conduction defect | HP:0040282 - Frequent | | | 126 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | SCN4A CL E G H | 6329 | 10591 | ORPHA:682 | Hyperkalemic periodic paralysis | HP:0040283 - Occasional | | | 263 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | SCN5A CL E G H | 6331 | 10593 | ORPHA:1344 | Atrial standstill | HP:0040283 - Occasional | | | 1134 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | SCN5A CL E G H | 6331 | 10593 | ORPHA:871 | Familial progressive cardiac conduction defect | HP:0040282 - Frequent | | | 1134 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | SCO1 CL E G H | 6341 | 10603 | OMIM:619048 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4 | | | | 46 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | SCO2 CL E G H | 9997 | 10604 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040282 - Frequent | | | 40 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | SDHA CL E G H | 6389 | 10680 | OMIM:613642 | Cardiomyopathy, dilated, 1gg | | | | 304 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | SDHA CL E G H | 6389 | 10680 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 304 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | SDHA CL E G H | 6389 | 10680 | OMIM:619259 | NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA | | | | 304 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | SDHAF2 CL E G H | 54949 | 26034 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 55 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 237 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | SDHB CL E G H | 6390 | 10681 | OMIM:171300 | PHEOCHROMOCYTOMA | . | | | 237 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040283 - Occasional | | | 237 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | SDHC CL E G H | 6391 | 10682 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 147 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 129 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | SDHD CL E G H | 6392 | 10683 | OMIM:171300 | PHEOCHROMOCYTOMA | . | | | 129 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040283 - Occasional | | | 129 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | SELENON CL E G H | 57190 | 15999 | ORPHA:324604 | Classic multiminicore myopathy | HP:0040283 - Occasional | | | 144 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | SEMA4D CL E G H | 10507 | 10732 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040283 - Occasional | | | | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | SF3B1 CL E G H | 23451 | 10768 | ORPHA:75564 | Acquired idiopathic sideroblastic anemia | HP:0040284 - Very rare | | | 19 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | SGCA CL E G H | 6442 | 10805 | OMIM:608099 | Muscular dystrophy, limb-girdle, type 2D | | | | 132 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | SGCD CL E G H | 6444 | 10807 | OMIM:606685 | CARDIOMYOPATHY, DILATED, 1L; CMD1L | | | | 223 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | SLC17A5 CL E G H | 26503 | 10933 | OMIM:269920 | Infantile sialic acid storage disease | . | | | 78 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | SLC19A2 CL E G H | 10560 | 10938 | ORPHA:49827 | Thiamine-responsive megaloblastic anemia syndrome | HP:0040283 - Occasional | | | 55 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | SLC22A5 CL E G H | 6584 | 10969 | OMIM:212140 | Carnitine deficiency, systemic primary | . | | | 207 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | SLC25A11 CL E G H | 8402 | 10981 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | SLC25A26 CL E G H | 115286 | 20661 | OMIM:616794 | Combined oxidative phosphorylation deficiency 28 | . | | | 5 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | SLC25A3 CL E G H | 5250 | 10989 | ORPHA:91130 | Cardiomyopathy-hypotonia-lactic acidosis syndrome | | | | 35 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | SLC2A10 CL E G H | 81031 | 13444 | ORPHA:3342 | Arterial tortuosity syndrome | HP:0040281 - Very frequent | | | 178 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | HP:0040283 - Occasional | | | 504 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | SMARCAL1 CL E G H | 50485 | 11102 | ORPHA:1830 | Schimke immuno-osseous dysplasia | HP:0040283 - Occasional | | | 74 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | SNAP29 CL E G H | 9342 | 11133 | ORPHA:66631 | CEDNIK syndrome | HP:0040283 - Occasional | | | 94 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | STAT1 CL E G H | 6772 | 11362 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | HP:0040283 - Occasional | | | 89 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | STRADA CL E G H | 92335 | 30172 | ORPHA:500533 | Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | SURF1 CL E G H | 6834 | 11474 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040282 - Frequent | | | 73 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | TAB2 CL E G H | 23118 | 17075 | OMIM:614980 | Congenital heart defects, multiple types, 2 | | | | 11 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | TAFAZZIN CL E G H | 6901 | 11577 | OMIM:302060 | Barth syndrome | . | | | | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | TBX20 CL E G H | 57057 | 11598 | ORPHA:99103 | Atrial septal defect, ostium secundum type | HP:0040283 - Occasional | | | 20 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | TCF4 CL E G H | 6925 | 11634 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040283 - Occasional | | | 241 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:75564 | Acquired idiopathic sideroblastic anemia | HP:0040284 - Very rare | | | 3 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | TF CL E G H | 7018 | 11740 | OMIM:209300 | ATRANSFERRINEMIA | . | | | 45 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | TLL1 CL E G H | 7092 | 11843 | ORPHA:99106 | Atrial septal defect, ostium primum type | HP:0040283 - Occasional | | | 6 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | TLL1 CL E G H | 7092 | 11843 | ORPHA:99103 | Atrial septal defect, ostium secundum type | HP:0040283 - Occasional | | | 6 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | TMEM127 CL E G H | 55654 | 26038 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 131 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | TMEM127 CL E G H | 55654 | 26038 | OMIM:171300 | PHEOCHROMOCYTOMA | . | | | 131 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | TMEM43 CL E G H | 79188 | 28472 | OMIM:604400 | Arrhythmogenic right ventricular dysplasia, familial, 5 | . | | | 171 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | TMEM70 CL E G H | 54968 | 26050 | ORPHA:1194 | TMEM70-related mitochondrial encephalo-cardio-myopathy | HP:0040282 - Frequent | | | 63 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | TNNC1 CL E G H | 7134 | 11943 | OMIM:611879 | CARDIOMYOPATHY, DILATED, 1Z; CMD1Z | | | | 73 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | TNNI3 CL E G H | 7137 | 11947 | OMIM:613286 | Cardiomyopathy, dilated, 1ff | | | | 180 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | TNNI3 CL E G H | 7137 | 11947 | OMIM:611880 | Cardiomyopathy, dilated, 2A | . | | | 180 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | TNNI3K CL E G H | 51086 | 19661 | OMIM:616117 | Cardiac conduction disease with or without dilated cardiomyopathy | HP:0040283 - Occasional | | | 1 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | TNNT2 CL E G H | 7139 | 11949 | OMIM:601494 | Cardiomyopathy, dilated, 1D | . | | | 248 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | TOM1 CL E G H | 10043 | 11982 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | HP:0040283 - Occasional | | | | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | TPI1 CL E G H | 7167 | 12009 | OMIM:615512 | Triosephosphate isomerase deficiency | . | | | 28 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | TPM1 CL E G H | 7168 | 12010 | OMIM:611878 | Cardiomyopathy, dilated, 1Y | . | | | 230 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | TRIM37 CL E G H | 4591 | 7523 | OMIM:253250 | Mulibrey nanism | . | | | 78 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | TRIP4 CL E G H | 9325 | 12310 | OMIM:616866 | Spinal muscular atrophy with congenital bone fractures 1 | | | | 4 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | TRNC CL E G H | 4511 | 7477 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | TRNE CL E G H | 4556 | 7479 | ORPHA:225 | Maternally-inherited diabetes and deafness | HP:0040282 - Frequent | | | | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | TRNF CL E G H | 4558 | 7481 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | TRNK CL E G H | 4566 | 7489 | ORPHA:225 | Maternally-inherited diabetes and deafness | HP:0040282 - Frequent | | | | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | TRNK CL E G H | 4566 | 7489 | ORPHA:1349 | Mitochondrial DNA-related cardiomyopathy and hearing loss | HP:0040282 - Frequent | | | | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | TRNK CL E G H | 4566 | 7489 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:225 | Maternally-inherited diabetes and deafness | HP:0040282 - Frequent | | | | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | TRNL1 CL E G H | 4567 | 7490 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | TRNQ CL E G H | 4572 | 7495 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | TRNS1 CL E G H | 4574 | 7497 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | TRNS2 CL E G H | 4575 | 7498 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | TRNV CL E G H | 4577 | 7500 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | TRNW CL E G H | 4578 | 7501 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | TRPM4 CL E G H | 54795 | 17993 | ORPHA:871 | Familial progressive cardiac conduction defect | HP:0040282 - Frequent | | | 124 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | TTN CL E G H | 7273 | 12403 | OMIM:604145 | CARDIOMYOPATHY, DILATED, 1G; CMD1G | | | | 7128 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | TTN CL E G H | 7273 | 12403 | ORPHA:324604 | Classic multiminicore myopathy | HP:0040283 - Occasional | | | 7128 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | TTR CL E G H | 7276 | 12405 | ORPHA:85451 | ATTRV122I amyloidosis | | | | 107 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | TUBB CL E G H | 203068 | 20778 | ORPHA:2505 | Multiple benign circumferential skin creases on limbs | HP:0040283 - Occasional | | | 14 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | VCL CL E G H | 7414 | 12665 | OMIM:613255 | Cardiomyopathy, familial hypertrophic, 15 | . | | | 248 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:52430 | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | HP:0040283 - Occasional | | | 63 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | VHL CL E G H | 7428 | 12687 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 490 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | VHL CL E G H | 7428 | 12687 | OMIM:171300 | PHEOCHROMOCYTOMA | . | | | 490 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | VHL CL E G H | 7428 | 12687 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040283 - Occasional | | | 490 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | VPS33A CL E G H | 65082 | 18179 | ORPHA:505248 | Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders | HP:0040282 - Frequent | | | 1 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | VPS33A CL E G H | 65082 | 18179 | OMIM:617303 | Mucopolysaccharidosis-Plus syndrome | | | | 1 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | WRN CL E G H | 7486 | 12791 | ORPHA:902 | Werner syndrome | HP:0040282 - Frequent | | | 310 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | XYLT1 CL E G H | 64131 | 15516 | OMIM:264800 | PSEUDOXANTHOMA ELASTICUM; PXE | | | | 14 | | |
HP:0001635 | HP:0001635 | Congestive heart failure | 0 | XYLT2 CL E G H | 64132 | 15517 | OMIM:264800 | PSEUDOXANTHOMA ELASTICUM; PXE | | | | 5 | | |
HP:0001635 | HP:0001722 | High-output congestive heart failure | 1 | CACNA1S CL E G H | 779 | 1397 | ORPHA:423 | Malignant hyperthermia of anesthesia | HP:0040283 - Occasional | | | 247 | | |
HP:0001635 | HP:0001722 | High-output congestive heart failure | 1 | ENG CL E G H | 2022 | 3349 | OMIM:187300 | Telangiectasia, hereditary hemorrhagic, type 1 | . | | | 186 | | |
HP:0001635 | HP:0001722 | High-output congestive heart failure | 1 | EPHB4 CL E G H | 2050 | 3395 | ORPHA:137667 | Capillary malformation-arteriovenous malformation | HP:0040283 - Occasional | | | 3 | | |
HP:0001635 | HP:0009805 | Low-output congestive heart failure | 1 | GAA CL E G H | 2548 | 4065 | ORPHA:308552 | Glycogen storage disease due to acid maltase deficiency, infantile onset | HP:0040282 - Frequent | | | 407 | | |
HP:0001635 | HP:0001722 | High-output congestive heart failure | 1 | HBB CL E G H | 3043 | 4827 | ORPHA:231222 | Beta-thalassemia intermedia | HP:0040283 - Occasional | | | 580 | | |
HP:0001635 | HP:0001722 | High-output congestive heart failure | 1 | HBB CL E G H | 3043 | 4827 | ORPHA:231214 | Beta-thalassemia major | HP:0040283 - Occasional | | | 580 | | |
HP:0001635 | HP:0001722 | High-output congestive heart failure | 1 | HBB CL E G H | 3043 | 4827 | ORPHA:231226 | Dominant beta-thalassemia | HP:0040284 - Very rare | | | 580 | | |
HP:0001635 | HP:0009805 | Low-output congestive heart failure | 1 | PNPLA2 CL E G H | 57104 | 30802 | ORPHA:565612 | Triglyceride deposit cardiomyovasculopathy | HP:0040282 - Frequent | | | 65 | | |
HP:0001635 | HP:0001722 | High-output congestive heart failure | 1 | RASA1 CL E G H | 5921 | 9871 | ORPHA:137667 | Capillary malformation-arteriovenous malformation | HP:0040283 - Occasional | | | 88 | | |
HP:0001635 | HP:0001722 | High-output congestive heart failure | 1 | RASA1 CL E G H | 5921 | 9871 | ORPHA:90307 | Parkes Weber syndrome | HP:0040282 - Frequent | | | 88 | | |
HP:0001635 | HP:0001722 | High-output congestive heart failure | 1 | RYR1 CL E G H | 6261 | 10483 | ORPHA:423 | Malignant hyperthermia of anesthesia | HP:0040283 - Occasional | | | 1200 | | |
HP:0001635 | HP:0009805 | Low-output congestive heart failure | 1 | SLC25A3 CL E G H | 5250 | 10989 | ORPHA:91130 | Cardiomyopathy-hypotonia-lactic acidosis syndrome | HP:0040282 - Frequent | | | 35 | | |