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:0001669 | HP:0001669 | Transposition of the great arteries | 0 | ACVR2B CL E G H | 93 | 174 | OMIM:613751 | Heterotaxy, visceral, 4, autosomal | | | | 161 | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | ATP2B1 CL E G H | 490 | 814 | OMIM:619910 | | | | | | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | BMP2 CL E G H | 650 | 1069 | OMIM:617877 | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies | . | | | 13 | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | CCDC103 CL E G H | 388389 | 32700 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 36 | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | CCDC39 CL E G H | 339829 | 25244 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 126 | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | CCDC40 CL E G H | 55036 | 26090 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 182 | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | CCDC65 CL E G H | 85478 | 29937 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 23 | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | CCNO CL E G H | 10309 | 18576 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 23 | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | CFAP221 CL E G H | 200373 | 33720 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | CFAP298 CL E G H | 56683 | 1301 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | CFAP300 CL E G H | 85016 | 28188 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | CFAP53 CL E G H | 220136 | 26530 | OMIM:614779 | Heterotaxy, visceral, 6, autosomal | . | | | 17 | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | CFC1 CL E G H | 55997 | 18292 | OMIM:605376 | Heterotaxy, visceral, 2, autosomal | . | | | 13 | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | CIROP CL E G H | 100128908 | 53647 | OMIM:619702 | HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12 | | | | | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | DNAAF1 CL E G H | 123872 | 30539 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 116 | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | DNAAF11 CL E G H | 23639 | 16725 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | DNAAF2 CL E G H | 55172 | 20188 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 78 | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | DNAAF3 CL E G H | 352909 | 30492 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 63 | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | DNAAF4 CL E G H | 161582 | 21493 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 27 | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | DNAAF5 CL E G H | 54919 | 26013 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 62 | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | DNAAF6 CL E G H | 139212 | 28570 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | DNAH1 CL E G H | 25981 | 2940 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 21 | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | DNAH11 CL E G H | 8701 | 2942 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 542 | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | DNAH5 CL E G H | 1767 | 2950 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 527 | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | DNAH9 CL E G H | 1770 | 2953 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 18 | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | DNAI1 CL E G H | 27019 | 2954 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 73 | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | DNAI2 CL E G H | 64446 | 18744 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 104 | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | DNAJB13 CL E G H | 374407 | 30718 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 2 | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | DNAL1 CL E G H | 83544 | 23247 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 167 | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | DRC1 CL E G H | 92749 | 24245 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 44 | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | FANCB CL E G H | 2187 | 3583 | OMIM:314390 | VACTERL association, X-linked | . | | | 58 | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | FKTN CL E G H | 2218 | 3622 | OMIM:253800 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 | . | | | 184 | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | FOXJ1 CL E G H | 2302 | 3816 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | GAS2L2 CL E G H | 246176 | 24846 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 1 | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | GAS8 CL E G H | 2622 | 4166 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 9 | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | GATA4 CL E G H | 2626 | 4173 | ORPHA:251071 | 8p23.1 microdeletion syndrome | HP:0040283 - Occasional | | | 87 | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | GATA6 CL E G H | 2627 | 4174 | OMIM:217095 | Conotruncal heart malformations | . | | | 37 | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | GATA6 CL E G H | 2627 | 4174 | OMIM:600001 | Pancreatic agenesis and congenital heart defects | . | | | 37 | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | GATA6 CL E G H | 2627 | 4174 | ORPHA:2255 | Pancreatic hypoplasia-diabetes-congenital heart disease syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | GDF1 CL E G H | 2657 | 4214 | OMIM:613854 | Congenital heart defects, multiple types, 6 | | | | 28 | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | GDF1 CL E G H | 2657 | 4214 | OMIM:208530 | Right atrial isomerism (Ivemark) | | | | 28 | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | GJA5 CL E G H | 2702 | 4279 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | . | | | 39 | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | GJA8 CL E G H | 2703 | 4281 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | . | | | 34 | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | GPC3 CL E G H | 2719 | 4451 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | 73 | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | GPC4 CL E G H | 2239 | 4452 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | HYDIN CL E G H | 54768 | 19368 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 21 | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:1662 | Restrictive dermopathy | HP:0040283 - Occasional | | | 645 | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | LRRC56 CL E G H | 115399 | 25430 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | MCIDAS CL E G H | 345643 | 40050 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 13 | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | MED13L CL E G H | 23389 | 22962 | OMIM:616789 | Mental retardation and distinctive facial features with or without cardiac defects | HP:0040283 - Occasional | | | 74 | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | MEGF8 CL E G H | 1954 | 3233 | OMIM:614976 | Carpenter syndrome 2 | | | | 13 | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | MMP21 CL E G H | 118856 | 14357 | OMIM:616749 | Heterotaxy, visceral, 7, autosomal | | | | 3 | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | NEK10 CL E G H | 152110 | 18592 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | NKX2-5 CL E G H | 1482 | 2488 | OMIM:217095 | Conotruncal heart malformations | . | | | 90 | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | NKX2-6 CL E G H | 137814 | 32940 | OMIM:217095 | Conotruncal heart malformations | . | | | 3 | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | NKX2-6 CL E G H | 137814 | 32940 | ORPHA:3384 | Truncus arteriosus | HP:0040284 - Very rare | | | 3 | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | NME8 CL E G H | 51314 | 16473 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 50 | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | NODAL CL E G H | 4838 | 7865 | OMIM:270100 | Heterotaxy, visceral, 5 | | | | 45 | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | ODAD1 CL E G H | 93233 | 26560 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | ODAD2 CL E G H | 55130 | 25583 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | ODAD3 CL E G H | 115948 | 28303 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | ODAD4 CL E G H | 83538 | 25280 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | OFD1 CL E G H | 8481 | 2567 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 201 | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | PHGDH CL E G H | 26227 | 8923 | OMIM:256520 | Neu-Laxova syndrome | . | | | 37 | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | PIGL CL E G H | 9487 | 8966 | ORPHA:3474 | CHIME syndrome | HP:0040282 - Frequent | | | 36 | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | PIGL CL E G H | 9487 | 8966 | OMIM:280000 | Zunich neuroectodermal syndrome | . | | | 36 | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | PLXND1 CL E G H | 23129 | 9107 | ORPHA:3384 | Truncus arteriosus | HP:0040284 - Very rare | | | | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | QRICH1 CL E G H | 54870 | 24713 | OMIM:617982 | VERVERI-BRADY SYNDROME; VERBRAS | | | | | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | RAB23 CL E G H | 51715 | 14263 | OMIM:201000 | Carpenter syndrome 1 | | | | 31 | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | RPGR CL E G H | 6103 | 10295 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 200 | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | RSPH1 CL E G H | 89765 | 12371 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 31 | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | RSPH3 CL E G H | 83861 | 21054 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 5 | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | RSPH4A CL E G H | 345895 | 21558 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 58 | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | RSPH9 CL E G H | 221421 | 21057 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 20 | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | SMAD2 CL E G H | 4087 | 6768 | OMIM:619657 | CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8 | | | | 7 | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | SMG9 CL E G H | 56006 | 25763 | OMIM:619995 | | | | | 2 | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | SPAG1 CL E G H | 6674 | 11212 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 45 | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | SPEF2 CL E G H | 79925 | 26293 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 15 | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | STK36 CL E G H | 27148 | 17209 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 3 | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | TBX1 CL E G H | 6899 | 11592 | ORPHA:1727 | 22q11.2 duplication syndrome | HP:0040283 - Occasional | | | 32 | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | TBX1 CL E G H | 6899 | 11592 | OMIM:217095 | Conotruncal heart malformations | . | | | 32 | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | TTC12 CL E G H | 54970 | 23700 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | WT1 CL E G H | 7490 | 12796 | ORPHA:3097 | Meacham syndrome | HP:0040283 - Occasional | | | 177 | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | WT1 CL E G H | 7490 | 12796 | OMIM:608978 | MEACHAM SYNDROME | | | | 177 | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | ZIC3 CL E G H | 7547 | 12874 | OMIM:306955 | Heterotaxy, visceral, 1, X-linked | | | | 39 | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | ZIC3 CL E G H | 7547 | 12874 | OMIM:314390 | VACTERL association, X-linked | . | | | 39 | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:1662 | Restrictive dermopathy | HP:0040283 - Occasional | | | 83 | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | ZMYND10 CL E G H | 51364 | 19412 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 20 | | |
HP:0001669 | HP:0001669 | Transposition of the great arteries | 0 | ZNF462 CL E G H | 58499 | 21684 | OMIM:618619 | WEISS-KRUSZKA SYNDROME; WSKA | | | | 4 | | |
HP:0001669 | HP:0031349 | Levotransposition of the great arteries | 1 | CL E G H | | | | | | | | | | |
HP:0001669 | HP:0031348 | Dextrotransposition of the great arteries | 1 | ACVR2B CL E G H | 93 | 174 | OMIM:613751 | Heterotaxy, visceral, 4, autosomal | | | | 161 | | |
HP:0001669 | HP:0031348 | Dextrotransposition of the great arteries | 1 | CIROP CL E G H | 100128908 | 53647 | OMIM:619702 | HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12 | | | | | | |
HP:0001669 | HP:0031348 | Dextrotransposition of the great arteries | 1 | NODAL CL E G H | 4838 | 7865 | OMIM:270100 | Heterotaxy, visceral, 5 | | | | 45 | | |
HP:0001669 | HP:0031348 | Dextrotransposition of the great arteries | 1 | SMAD2 CL E G H | 4087 | 6768 | OMIM:619657 | CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8 | | | | 7 | | |
HP:0001669 | HP:0031348 | Dextrotransposition of the great arteries | 1 | SMG9 CL E G H | 56006 | 25763 | OMIM:619995 | | | | | 2 | | |
HP:0001669 | HP:0031348 | Dextrotransposition of the great arteries | 1 | ZIC3 CL E G H | 7547 | 12874 | OMIM:306955 | Heterotaxy, visceral, 1, X-linked | | | | 39 | | |
HP:0001669 | HP:0031348 | Dextrotransposition of the great arteries | 1 | ZNF462 CL E G H | 58499 | 21684 | OMIM:618619 | WEISS-KRUSZKA SYNDROME; WSKA | | | | 4 | | |