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:0001719 | HP:0001719 | Double outlet right ventricle | 0 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:79500 | DOORS syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | BCOR CL E G H | 54880 | 20893 | OMIM:300166 | Microphthalmia, syndromic 2 | | | | 101 | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | CCDC103 CL E G H | 388389 | 32700 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 36 | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | CCDC39 CL E G H | 339829 | 25244 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 126 | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | CCDC40 CL E G H | 55036 | 26090 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 182 | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | CCDC65 CL E G H | 85478 | 29937 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 23 | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | CCNO CL E G H | 10309 | 18576 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 23 | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | CFAP221 CL E G H | 200373 | 33720 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | CFAP298 CL E G H | 56683 | 1301 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | CFAP300 CL E G H | 85016 | 28188 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | CFAP53 CL E G H | 220136 | 26530 | OMIM:614779 | Heterotaxy, visceral, 6, autosomal | | | | 17 | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | CFC1 CL E G H | 55997 | 18292 | OMIM:605376 | Heterotaxy, visceral, 2, autosomal | . | | | 13 | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | . | | | 515 | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | CIROP CL E G H | 100128908 | 53647 | OMIM:619702 | HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12 | | | | | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | DNAAF1 CL E G H | 123872 | 30539 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 116 | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | DNAAF11 CL E G H | 23639 | 16725 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | DNAAF2 CL E G H | 55172 | 20188 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 78 | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | DNAAF3 CL E G H | 352909 | 30492 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 63 | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | DNAAF4 CL E G H | 161582 | 21493 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 27 | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | DNAAF5 CL E G H | 54919 | 26013 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 62 | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | DNAAF6 CL E G H | 139212 | 28570 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | DNAH1 CL E G H | 25981 | 2940 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 21 | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | DNAH11 CL E G H | 8701 | 2942 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 542 | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | DNAH5 CL E G H | 1767 | 2950 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 527 | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | DNAH9 CL E G H | 1770 | 2953 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 18 | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | DNAI1 CL E G H | 27019 | 2954 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 73 | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | DNAI2 CL E G H | 64446 | 18744 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 104 | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | DNAJB13 CL E G H | 374407 | 30718 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 2 | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | DNAL1 CL E G H | 83544 | 23247 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 167 | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | DRC1 CL E G H | 92749 | 24245 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 44 | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | EIF2AK3 CL E G H | 9451 | 3255 | ORPHA:1667 | Wolcott-Rallison syndrome | HP:0040284 - Very rare | | | 65 | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | FOXJ1 CL E G H | 2302 | 3816 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | GAS2L2 CL E G H | 246176 | 24846 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 1 | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | GAS8 CL E G H | 2622 | 4166 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 9 | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | GATA1 CL E G H | 2623 | 4170 | OMIM:190685 | Down syndrometrisomy 21, included | | | | 29 | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | GATA5 CL E G H | 140628 | 15802 | OMIM:617912 | Congenital heart defects, multiple types, 5 | . | | | 10 | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | GATA6 CL E G H | 2627 | 4174 | OMIM:217095 | Conotruncal heart malformations | . | | | 37 | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | GDF1 CL E G H | 2657 | 4214 | OMIM:613854 | Congenital heart defects, multiple types, 6 | . | | | 28 | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:397 | Giant cell arteritis | | | | 4 | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:397 | Giant cell arteritis | | | | 2 | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | HYDIN CL E G H | 54768 | 19368 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 21 | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | LRRC56 CL E G H | 115399 | 25430 | OMIM:618254 | CILIARY DYSKINESIA, PRIMARY, 39; CILD39 | | | | | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | LRRC56 CL E G H | 115399 | 25430 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | MCIDAS CL E G H | 345643 | 40050 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 13 | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | MCTP2 CL E G H | 55784 | 25636 | ORPHA:1596 | Distal monosomy 15q | | | | 3 | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | MMP14 CL E G H | 4323 | 7160 | ORPHA:371428 | Multicentric osteolysis-nodulosis-arthropathy spectrum | HP:0040283 - Occasional | | | 2 | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | MMP2 CL E G H | 4313 | 7166 | ORPHA:371428 | Multicentric osteolysis-nodulosis-arthropathy spectrum | HP:0040283 - Occasional | | | 64 | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | NADSYN1 CL E G H | 55191 | 29832 | OMIM:618845 | VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3 | | | | | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | NEK10 CL E G H | 152110 | 18592 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | NKX2-5 CL E G H | 1482 | 2488 | OMIM:217095 | Conotruncal heart malformations | . | | | 90 | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | NKX2-6 CL E G H | 137814 | 32940 | OMIM:217095 | Conotruncal heart malformations | . | | | 3 | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | NME8 CL E G H | 51314 | 16473 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 50 | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | NODAL CL E G H | 4838 | 7865 | OMIM:270100 | Heterotaxy, visceral, 5 | | | | 45 | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | NOTCH1 CL E G H | 4851 | 7881 | OMIM:109730 | Aortic valve disease 1 | HP:0040284 - Very rare | | | 452 | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | ODAD1 CL E G H | 93233 | 26560 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | ODAD2 CL E G H | 55130 | 25583 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | ODAD3 CL E G H | 115948 | 28303 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | ODAD4 CL E G H | 83538 | 25280 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | OFD1 CL E G H | 8481 | 2567 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 201 | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | OTUD5 CL E G H | 55593 | 25402 | OMIM:301056 | MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND | | | | | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | P4HA2 CL E G H | 8974 | 8547 | ORPHA:397 | Giant cell arteritis | | | | 3 | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | PAH CL E G H | 5053 | 8582 | ORPHA:2209 | Maternal phenylketonuria | HP:0040283 - Occasional | | | 641 | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | PEX19 CL E G H | 5824 | 9713 | OMIM:614886 | Peroxisome biogenesis disorder 12A (Zellweger) | . | | | 62 | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | PKD1L1 CL E G H | 168507 | 18053 | OMIM:617205 | Heterotaxy, visceral, 8, autosomal | . | | | 3 | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | PLCH1 CL E G H | 23007 | 29185 | OMIM:619895 | | | | | | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:397 | Giant cell arteritis | | | | 3 | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | RAI1 CL E G H | 10743 | 9834 | ORPHA:477817 | PMP22-RAI1 contiguous gene duplication syndrome | HP:0040283 - Occasional | | | 150 | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | RPGR CL E G H | 6103 | 10295 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 200 | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | RSPH1 CL E G H | 89765 | 12371 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 31 | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | RSPH3 CL E G H | 83861 | 21054 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 5 | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | RSPH4A CL E G H | 345895 | 21558 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 58 | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | RSPH9 CL E G H | 221421 | 21057 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 20 | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | SH3PXD2B CL E G H | 285590 | 29242 | OMIM:249420 | Frank-ter Haar syndrome | | | | 134 | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | SMAD2 CL E G H | 4087 | 6768 | OMIM:619657 | CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8 | | | | 7 | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | SPAG1 CL E G H | 6674 | 11212 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 45 | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | SPEF2 CL E G H | 79925 | 26293 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 15 | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | STAG2 CL E G H | 10735 | 11355 | OMIM:301043 | HOLOPROSENCEPHALY 13, X-LINKED; HPE13 | | | | 1 | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | STK36 CL E G H | 27148 | 17209 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 3 | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:79500 | DOORS syndrome | HP:0040283 - Occasional | | | 271 | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | TBX1 CL E G H | 6899 | 11592 | OMIM:217095 | Conotruncal heart malformations | . | | | 32 | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | TBX2 CL E G H | 6909 | 11597 | OMIM:618223 | VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION | . | | | | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | TMEM94 CL E G H | 9772 | 28983 | OMIM:618316 | Intellectual developmental disorder with cardiac defects and dysmorphic facies | . | | | 1 | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | TRAF7 CL E G H | 84231 | 20456 | OMIM:618164 | Cardiac, facial, and digital anomalies with developmental delay | . | | | | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | TTC12 CL E G H | 54970 | 23700 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | UBE2A CL E G H | 7319 | 12472 | ORPHA:163956 | X-linked intellectual disability, Nascimento type | HP:0040283 - Occasional | | | 7 | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | WASHC5 CL E G H | 9897 | 28984 | OMIM:220210 | Ritscher-Schinzel syndrome 1 | . | | | 83 | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | ZIC3 CL E G H | 7547 | 12874 | OMIM:306955 | Heterotaxy, visceral, 1, X-linked | | | | 39 | | |
HP:0001719 | HP:0001719 | Double outlet right ventricle | 0 | ZMYND10 CL E G H | 51364 | 19412 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 20 | | |
HP:0001719 | HP:0011654 | Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis | 1 | CL E G H | | | | | | | | | | |
HP:0001719 | HP:0011653 | Double outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosis | 1 | CL E G H | | | | | | | | | | |
HP:0001719 | HP:0011652 | Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis | 1 | CL E G H | | | | | | | | | | |
HP:0001719 | HP:0011657 | Double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis | 1 | CL E G H | | | | | | | | | | |
HP:0001719 | HP:0011656 | Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis | 1 | CL E G H | | | | | | | | | | |
HP:0001719 | HP:0011655 | Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis | 1 | CL E G H | | | | | | | | | | |
HP:0001719 | HP:0011658 | Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis | 1 | HLA-B CL E G H | 3106 | 4932 | ORPHA:397 | Giant cell arteritis | HP:0040283 - Occasional | | | 4 | | |
HP:0001719 | HP:0011658 | Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis | 1 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:397 | Giant cell arteritis | HP:0040283 - Occasional | | | 2 | | |
HP:0001719 | HP:0011651 | Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis | 1 | MCTP2 CL E G H | 55784 | 25636 | ORPHA:1596 | Distal monosomy 15q | HP:0040283 - Occasional | | | 3 | | |
HP:0001719 | HP:0011658 | Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis | 1 | P4HA2 CL E G H | 8974 | 8547 | ORPHA:397 | Giant cell arteritis | HP:0040283 - Occasional | | | 3 | | |
HP:0001719 | HP:0011658 | Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis | 1 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:397 | Giant cell arteritis | HP:0040283 - Occasional | | | 3 | | |